Browse Bibliography

All publications used to generate the mutation database are listed alphabetically here. To link directly to a specific first author surname click on the required letter below.

ABCDEFGHIJKLMNOPQRSTUVWXYZ

A

Abe A, Numakura C, Saito K, Koide H, Oka N, Honma A, Kishikawa Y, Hayasaka K
Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype.
J Hum Genet 2009 54(2) 94-97 PubMed: 19158810

Abu Sa'd J, Indelman M, Pfendner E, Falik-Zaccai TC, Mizrachi-Koren M, Shalev S, Ben Amitai D, Raas-Rothshild A, Adir-Shani A, Borochowitz ZU, Gershoni-Baruch R, Khayat M, Landau D, Richard G, Bergman R, Uitto J, Kanaan M, Sprecher E
Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.
J Invest Dermatol 2006 126(4) 777-781 PubMed: 16439963

Agarwal AK, Kazachkova I, Ten S, Garg A
Severe Mandibuloacral Dysplasia Associated Lipodystrophy and Progeria in a Young Girl with a Novel Homozygous Arg527Cys LMNA Mutation.
J Clin Endocrinol Metab 2008 () - PubMed: 18796515

Akasaka H, Katsuya T, Saitoh S, Sugimoto K, Ohnishi H, Congrains A, Ohnishi M, Ohishi M, Rakugi H, Ogihara T, Shimamoto K
A promoter polymorphism of lamin A/C gene is an independent genetic predisposition to arterial stiffness in a Japanese general population (the Tanno and Sobetsu study).
J Atheroscler Thromb 2009 16(4) 404-409 PubMed: 19672032

Akiyama M, Takizawa Y, Sawamura D, Matsuo I, Shimizu H
Disruption of the suprabasal keratin network by mutation M150T in the helix initiation motif of keratin 10 does not affect cornified cell envelope formation in human epidermis.
Exp Dermatol 2003 12(5) 638-645 PubMed: 14705805

Akiyama M, Tsuji-Abe Y, Yanagihara M, Nakajima K, Kodama H, Yaosaka M, Abe M, Sawamura D, Shimizu H
Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing.
Br J Dermatol 2005 152(6) 1353-1356 PubMed: 15949009

Al-Chalabi A, Andersen PM, Nilsson P, Chioza B, Andersson JL, Russ C, Shaw CE, Powell JF, Leigh PN
Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis.
Hum Mol Genet 1999 8(2) 157-164 PubMed: 9931323

Ambrosi P, Mouly-Bandini A, Attarian S, Habib G
Heart transplantation in 7 patients from a single family with limb-girdle muscular dystrophy caused by lamin A/C mutation.
Int J Cardiol 2009 () - PubMed: 19446900

Amichai B, Karpati M, Goldman B, Peleg L
Keratin-9 gene mutation in a family with epidermolytic palmoplantar keratoderma.
J Eur Acad Dermatol Venereol 2002 16(2) 134-136 PubMed: 12046815

Andrigo C, Boito C, Prandini P, Mostacciuolo ML, Siciliano G, Angelini C, Pegoraro E
A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E.
Neurogenetics 2005 6(1) 49-50 PubMed: 15654615

Antoniades L, Eftychiou C, Kyriakides T, Christodoulou K, Katritsis DG
Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy.
J Interv Card Electrophysiol 2007 19(1) 1-7 PubMed: 17605093

Aoki Y, Haginoya K, Munakata M, Yokoyama H, Nishio T, Togashi N, Ito T, Suzuki Y, Kure S, Iinuma K, Brenner M, Matsubara Y
A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease.
Neurosci Lett 2001 312(2) 71-74 PubMed: 11595337

Araújo-Vilar D, Lado-Abeal J, Palos-Paz F, Lattanzi G, Bandín MA, Bellido D, Domínguez-Gerpe L, Calvo C, Pérez O, Ramazanova A, Martínez-Sánchez N, Victoria B, Costa-Freitas AT
A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin-resistance, aortic stenosis and hypertrophic cardiomyopathy.
Clin Endocrinol (Oxf) 2007 () - PubMed: 18031308

Araújo-Vilar D, Loidi L, Domínguez F, Cabezas-Cerrato J
Phenotypic gender differences in subjects with familial partial lipodystrophy (Dunnigan variety) due to a nuclear lamin A/C R482W mutation.
Horm Metab Res 2003 35(1) 29-35 PubMed: 12669268

Arbustini E, Pasotti M, Pilotto A, Pellegrini C, Grasso M, Previtali S, Repetto A, Bellini O, Azan G, Scaffino M, Campana C, Piccolo G, Viganò M, Tavazzi L
Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.
Eur J Heart Fail 2006 8(5) 477-483 PubMed: 16376610

Arbustini E, Pilotto A, Grasso M, Marziliano N, Serio A, Gambarin F, Pasotti M, Serafini E, Cassini P, Digiorgio B
Novel human pathological mutations. Gene symbol: LMNA. Disease: cardiomyopathy, dilated with conduction defects.
Hum Genet 2009 125(3) 350-350 PubMed: 19320036

Arbustini E, Pilotto A, Repetto A, Grasso M, Negri A, Diegoli M, Campana C, Scelsi L, Baldini E, Gavazzi A, Tavazzi L
Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.
J Am Coll Cardiol 2002 39(6) 981-990 PubMed: 11897440

Arbustini EA, Pasotti M, Pilotto A, Repetto A, Grasso M, Diegoli M
Gene symbol: CMD1A. Disease: Dilated cardiomyopathy associated with conduction system disease.
Hum Genet 2005 117(2-3) 295-295 PubMed: 16156018

Arias M, Pardo J, Blanco-Arias P, Sobrido MJ, Arias S, Dapena D, Carracedo A, Goldfarb LG, Navarro C
Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation.
Neuromuscul Disord 2006 16(8) 498-503 PubMed: 16806931

Arin MJ, Longley MA, Anton-Lamprecht I, Kurze G, Huber M, Hohl D, Rothnagel JA, Roop DR
A novel substitution in keratin 10 in epidermolytic hyperkeratosis.
J Invest Dermatol 1999 112(4) 506-508 PubMed: 10201536

Arin MJ, Longley MA, Epstein EH, Rothnagel JA, Roop DR
Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis.
Exp Dermatol 2000 9(1) 16-19 PubMed: 10688370

Arin MJ, Longley MA, Epstein EH, Scott G, Goldsmith LA, Rothnagel JA, Roop DR
A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens.
J Invest Dermatol 1999 112(3) 380-382 PubMed: 10084318

Arin MJ, Longley MA, Küster W, Huber M, Hohl D, Rothnagel JA, Roop DR
An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis.
Exp Dermatol 1999 8(2) 124-127 PubMed: 10232403

Asahina N, Okamoto T, Sudo A, Kanazawa N, Tsujino S, Saitoh S
An infantile-juvenile form of Alexander disease caused by a R79H mutation in GFAP.
Brain Dev 2006 28(2) 131-133 PubMed: 16168593

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B

Bachetti T, Caroli F, Bocca P, Prigione I, Balbi P, Biancheri R, Filocamo M, Mariotti C, Pareyson D, Ravazzolo R, Ceccherini I
Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease.
Eur J Hum Genet 2008 16(4) 462-470 PubMed: 18197187

Bai Z, Feng Y, Tan S, Kang R, Wang X, He D
[Two mutations of the KRT6A gene in Chinese patients with pachyonychia congenita type I.]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2009 26(5) 514-517 PubMed: 19806570

Bai ZL, Feng YG, Tan SS, Wang XY, Xiao SX, Wang H, Jia HQ, Wu JW, He DL, Kang RH
Mutations of KRT6A are more frequent than those of KRT16 in pachyonychia congenita type 1: report of a novel and a recently reported mutation in two unrelated Chinese families.
Br J Dermatol 2008 159(1) 238-240 PubMed: 18489596

Balbi P, Seri M, Ceccherini I, Uggetti C, Casale R, Fundarò C, Caroli F, Santoro L
Adult-onset Alexander disease : report on a family.
J Neurol 2008 255(1) 24-30 PubMed: 18004641

Bär H, Fischer D, Goudeau B, Kley RA, Clemen CS, Vicart P, Herrmann H, Vorgerd M, Schröder R
Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro.
Hum Mol Genet 2005 14(10) 1251-1260 PubMed: 15800015

Bär H, Goudeau B, Wälde S, Casteras-Simon M, Mücke N, Shatunov A, Goldberg YP, Clarke C, Holton JL, Eymard B, Katus HA, Fardeau M, Goldfarb L, Vicart P, Herrmann H
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.
Hum Mutat 2007 28(4) 374-386 PubMed: 17221859

Basarab T, Smith FJ, Jolliffe VM, McLean WH, Neill S, Rustin MH, Eady RA
Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature.
Br J Dermatol 1999 140(4) 689-695 PubMed: 10233323

Bassuk AG, Joshi A, Burton BK, Larsen MB, Burrowes DM, Stack C
Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene.
Neurology 2003 61(7) 1014-1015 PubMed: 14557587

Batta K, Rugg EL, Wilson NJ, West N, Goodyear H, Lane EB, Gratian M, Dopping-Hepenstal P, Moss C, Eady RA
A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease.
Br J Dermatol 2000 143(3) 621-627 PubMed: 10971341

Bécane HM, Bonne G, Varnous S, Muchir A, Ortega V, Hammouda EH, Urtizberea JA, Lavergne T, Fardeau M, Eymard B, Weber S, Schwartz K, Duboc D
High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation.
Pacing Clin Electrophysiol 2000 23(11 Pt 1) 1661-1666 PubMed: 11138304

Ben Yaou R, Toutain A, Arimura T, Demay L, Massart C, Peccate C, Muchir A, Llense S, Deburgrave N, Leturcq F, Litim KE, Rahmoun-Chiali N, Richard P, Babuty D, Récan-Budiartha D, Bonne G
Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?
Neurology 2007 68(22) 1883-1894 PubMed: 17536044

Benedetti S, Bertini E, Iannaccone S, Angelini C, Trisciani M, Toniolo D, Sferrazza B, Carrera P, Comi G, Ferrari M, Quattrini A, Previtali SC
Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.
J Neurol Neurosurg Psychiatry 2005 76(7) 1019-1021 PubMed: 15965218

Benedetti S, Menditto I, Degano M, Rodolico C, Merlini L, D'Amico A, Palmucci L, Berardinelli A, Pegoraro E, Trevisan CP, Morandi L, Moroni I, Galluzzi G, Bertini E, Toscano A, Olivè M, Bonne G, Mari F, Caldara R, Fazio R, Mammì I, Carrera P, Toniolo D, Comi G, Quattrini A, Ferrari M, Previtali SC
Phenotypic clustering of lamin A/C mutations in neuromuscular patients.
Neurology 2007 () - PubMed: 17377071

Bergman JE, Veenstra-Knol HE, van Essen AJ, van Ravenswaaij CM, den Dunnen WF, van den Wijngaard A, Peter van Tintelen J
Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene.
Eur J Med Genet 2007 () - PubMed: 17720647

Betlloch I, Lucas Costa A, Mataix J, Pérez-Crespo M, Ballester I
Bullous congenital ichthyosiform erythroderma: a sporadic case produced by a new KRT10 gene mutation.
Pediatr Dermatol 2009 26(4) 489-491 PubMed: 19689541

Betz RC, Planko L, Eigelshoven S, Hanneken S, Pasternack SM, Bussow H, Van Den Bogaert K, Wenzel J, Braun-Falco M, Rutten A, Rogers MA, Ruzicka T, Nöthen MM, Magin TM, Kruse R
Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.
Am J Hum Genet 2006 78(3) 510-519 PubMed: 16465624

Bhagavati S, Maccabee PJ, Xu W
The neurofilament light chain gene (NEFL) mutation Pro22Ser can be associated with mixed axonal and demyelinating neuropathy.
J Clin Neurosci 2009 () - PubMed: 19286384

Bilińska ZT, Sylvius N, Grzybowski J, Fidziańska A, Michalak E, Walczak E, Walski M, Bieganowska K, Szymaniak E, Kuśmierczyk-Droszcz B, Lubiszewska B, Wagner T, Tesson F, Ruzyłło W
Dilated cardiomyopathy caused by LMNA mutations. Clinical and morphological studies.
Kardiol Pol 2006 64(8) 812-819 PubMed: 16981056

Bonifas JM, Bare JW, Chen MA, Lee MK, Slater CA, Goldsmith LA, Epstein EH
Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12.
J Invest Dermatol 1992 99(5) 524-527 PubMed: 1385543

Bonifas JM, Matsumura K, Chen MA, Berth-Jones J, Hutchison PE, Zloczower M, Fritsch PO, Epstein EH
Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis.
J Invest Dermatol 1994 103(4) 474-477 PubMed: 7523529

Bonifas JM, Rothman AL, Epstein EH
Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities.
Science 1991 254(5035) 1202-1205 PubMed: 1720261

Bonne G, Di Barletta MR, Varnous S, Bécane HM, Hammouda EH, Merlini L, Muntoni F, Greenberg CR, Gary F, Urtizberea JA, Duboc D, Fardeau M, Toniolo D, Schwartz K
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.
Nat Genet 1999 21(3) 285-288 PubMed: 10080180

Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
Ann Neurol 2000 48(2) 170-180 PubMed: 10939567

Boriani G, Gallina M, Merlini L, Bonne G, Toniolo D, Amati S, Biffi M, Martignani C, Frabetti L, Bonvicini M, Rapezzi C, Branzi A
Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study.
Stroke 2003 34(4) 901-908 PubMed: 12649505

Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E
Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.
Brain 2007 130(Pt 4) 1062-1075 PubMed: 17347251

Bowden PE, Haley JL, Kansky A, Rothnagel JA, Jones DO, Turner RJ
Mutation of a type II keratin gene (K6a) in pachyonychia congenita.
Nat Genet 1995 10(3) 363-365 PubMed: 7545493

Bowden PE, Knight AG, Liovic M
A novel mutation (p.Thr198Ser) in the 1A helix of keratin 5 causes the localized variant of Epidermolysis Bullosa Simplex.
Exp Dermatol 2009 () - PubMed: 19220453

Brauch KM, Chen LY, Olson TM
Comprehensive mutation scanning of LMNA in 268 patients with lone atrial fibrillation.
Am J Cardiol 2009 103(10) 1426-1428 PubMed: 19427440

Brenner M, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A
Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.
Nat Genet 2001 27(1) 117-120 PubMed: 11138011

Brockmann K, Meins M, Taubert A, Trappe R, Grond M, Hanefeld F
A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease?
Eur Neurol 2003 50(2) 100-105 PubMed: 12944715

Brodsky GL, Muntoni F, Miocic S, Sinagra G, Sewry C, Mestroni L
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement.
Circulation 2000 101(5) 473-476 PubMed: 10662742

Brown CA, Lanning RW, McKinney KQ, Salvino AR, Cherniske E, Crowe CA, Darras BT, Gominak S, Greenberg CR, Grosmann C, Heydemann P, Mendell JR, Pober BR, Sasaki T, Shapiro F, Simpson DA, Suchowersky O, Spence JE
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.
Am J Med Genet 2001 102(4) 359-367 PubMed: 11503164

Brussino A, Vaula G, Cagnoli C, Mauro A, Pradotto L, Daniele D, Di Gregorio E, Barberis M, Arduino C, Squadrone S, Abete MC, Migone N, Calabrese O, Brusco A
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy.
J Neurol Neurosurg Psychiatry 2009 80(2) 237-240 PubMed: 19151023

Büning C, Halangk J, Dignass A, Ockenga J, Deindl P, Nickel R, Genschel J, Landt O, Lochs H, Schmidt H, Witt H
Keratin 8 Y54H and G62C mutations are not associated with inflammatory bowel disease.
Dig Liver Dis 2004 36(6) 388-391 PubMed: 15248378

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C

Cáceres-Marzal C, Vaquerizo J, Galán E, Fernández S
Early mitochondrial dysfunction in an infant with Alexander disease.
Pediatr Neurol 2006 35(4) 293-296 PubMed: 16996408

Cao H, Hegele RA
Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.
Hum Mol Genet 2000 9(1) 109-112 PubMed: 10587585

Cao H, Hegele RA
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).
J Hum Genet 2003 48(5) 271-274 PubMed: 12768443

Carboni N, Mura M, Marrosu G, Cocco E, Ahmad M, Solla E, Mateddu A, Maioli MA, Marini S, Nissardi V, Frau J, Mallarini G, Mercuro G, Marrosu MG
Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation.
Neuromuscul Disord 2008 18(4) 291-298 PubMed: 18337098

Carlsson L, Fischer C, Sjöberg G, Robson RM, Sejersen T, Thornell LE
Cytoskeletal derangements in hereditary myopathy with a desmin L345P mutation.
Acta Neuropathol (Berl) 2002 104(5) 493-504 PubMed: 12410397

Caroli F, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease.
Clin Genet 2007 72(5) 427-433 PubMed: 17894839

Caux F, Dubosclard E, Lascols O, Buendia B, Chazouillères O, Cohen A, Courvalin JC, Laroche L, Capeau J, Vigouroux C, Christin-Maitre S
A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.
J Clin Endocrinol Metab 2003 88(3) 1006-1013 PubMed: 12629077

Cavestro GM, Frulloni L, Nouvenne A, Neri TM, Calore B, Ferri B, Bovo P, Okolicsanyi L, Di Mario F, Cavallini G
Association of keratin 8 gene mutation with chronic pancreatitis.
Dig Liver Dis 2003 35(6) 416-420 PubMed: 12868678

Celebi JT, Tanzi EL, Yao YJ, Michael EJ, Peacocke M
Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2.
J Invest Dermatol 1999 113(5) 848-850 PubMed: 10571744

Chan Y, Anton-Lamprecht I, Yu QC, Jäckel A, Zabel B, Ernst JP, Fuchs E
A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein.
Genes Dev 1994 8(21) 2574-2587 PubMed: 7525408

Chan YM, Cheng J, Gedde-Dahl T, Niemi KM, Fuchs E
Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex.
J Invest Dermatol 1996 106(2) 327-334 PubMed: 8601736

Chan YM, Yu QC, Fine JD, Fuchs E
The genetic basis of Weber-Cockayne epidermolysis bullosa simplex.
Proc Natl Acad Sci U S A 1993 90(15) 7414-7418 PubMed: 7688477

Chan YM, Yu QC, LeBlanc-Straceski J, Christiano A, Pulkkinen L, Kucherlapati RS, Uitto J, Fuchs E
Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex.
J Cell Sci 1994 107 ( Pt 4)() 765-774 PubMed: 7520042

Chao SC, Tsai YM, Yang MH, Lee JY
A novel mutation in the keratin 4 gene causing white sponge naevus.
Br J Dermatol 2003 148(6) 1125-1128 PubMed: 12828738

Chao SC, Yang MH, Lee SF
Novel KRT14 mutation in a Taiwanese patient with epidermolysis bullosa simplex (Köbner type).
J Formos Med Assoc 2002 101(4) 287-290 PubMed: 12101866

Charniot JC, Bonnefont-Rousselot D, Marchand C, Zerhouni K, Vignat N, Peynet J, Plotkine M, Legrand A, Artigou JY
Oxidative stress implication in a new phenotype of amyotrophic quadricipital syndrome with cardiac involvement due to lamin A/C mutation.
Free Radic Res 2007 41(4) 424-431 PubMed: 17454124

Charniot JC, Desnos M, Zerhouni K, Bonnefont-Rousselot D, Albertini JP, Salama JZ, Bassez G, Komajda M, Artigou JY
Severe dilated cardiomyopathy and quadriceps myopathy due to lamin A/C gene mutation: a phenotypic study.
Eur J Heart Fail 2006 8(3) 249-256 PubMed: 16314145

Charniot JC, Pascal C, Bouchier C, Sébillon P, Salama J, Duboscq-Bidot L, Peuchmaurd M, Desnos M, Artigou JY, Komajda M
Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype.
Hum Mutat 2003 21(5) 473-481 PubMed: 12673789

Chassaing N, Kanitakis J, Sportich S, Cordier-Alex MP, Titeux M, Calvas P, Claudy A, Berbis P, Hovnanian A
Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis.
J Invest Dermatol 2006 126(12) 2715-2717 PubMed: 16990804

Chen H, Bonifas JM, Matsumura K, Ikeda S, Leyden WA, Epstein EH
Keratin 14 gene mutations in patients with epidermolysis bullosa simplex.
J Invest Dermatol 1995 105(4) 629-632 PubMed: 7561171

Chen L, Lee L, Kudlow BA, Dos Santos HG, Sletvold O, Shafeghati Y, Botha EG, Garg A, Hanson NB, Martin GM, Mian IS, Kennedy BK, Oshima J
LMNA mutations in atypical Werner's syndrome.
Lancet 2003 362(9382) 440-445 PubMed: 12927431

Chen MA, Bonifas JM, Matsumura K, Blumenfeld A, Epstein EH
A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375.
Hum Mol Genet 1993 2(11) 1971-1972 PubMed: 7506606

Chen XL, Xu CM, Cai SR, Chen CY, Zhang XN
Prenatal diagnosis of epidermolytic palmoplantar keratoderma caused by c.T470C (p.M157T) of the keratin 9 gene in a Chinese kindred.
Prenat Diagn 2009 29(9) 911-913 PubMed: 19548225

Chen YT, Tseng SH, Chao SC
Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.
Cornea 2005 24(8) 928-932 PubMed: 16227835

Cheng J, Syder AJ, Yu QC, Letai A, Paller AS, Fuchs E
The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes.
Cell 1992 70(5) 811-819 PubMed: 1381287

Chiang YY, Chao SC, Chen WY, Lee WR, Wang KH
Weber-Cockayne type of epidermolysis bullosa simplex associated with a novel mutation in keratin 5 and amyloid deposits.
Br J Dermatol 2008 () - PubMed: 18764844

Chipev CC, Korge BP, Markova N, Bale SJ, DiGiovanna JJ, Compton JG, Steinert PM
A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis.
Cell 1992 70(5) 821-828 PubMed: 1381288

Chipev CC, Yang JM, DiGiovanna JJ, Steinert PM, Marekov L, Compton JG, Bale SJ
Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis.
Am J Hum Genet 1994 54(2) 179-190 PubMed: 7508181

Chiu HC, Jee SH, Sheen YS, Chu CY, Lin PJ, Liaw SH
Mutation of keratin 9 (R163W) in a family with epidermolytic palmoplantar keratoderma and knuckle pads.
J Dermatol Sci 2007 45(1) 63-65 PubMed: 17074468

Choi BO, Lee MS, Shin SH, Hwang JH, Choi KG, Kim WK, Sunwoo IN, Kim NK, Chung KW
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
Hum Mutat 2004 24(2) 185-186 PubMed: 15241803

Chrestian N, Valdmanis PN, Echahidi N, Brunet D, Bouchard JP, Gould P, Rouleau GA, Champagne J, Dupré N
A novel mutation in a large French-Canadian family with LGMD1B.
Can J Neurol Sci 2008 35(3) 331-334 PubMed: 18714801

Ciubotaru D, Bergman R, Baty D, Indelman M, Pfendner E, Petronius D, Moualem H, Kanaan M, Ben Amitai D, McLean WH, Uitto J, Sprecher E
Epidermolysis bullosa simplex in Israel: clinical and genetic features.
Arch Dermatol 2003 139(4) 498-505 PubMed: 12707098

Clemen CS, Fischer D, Reimann J, Eichinger L, Müller CR, Müller HD, Goebel HH, Schröder R
How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy.
Hum Mutat 2008 () - PubMed: 19105189

Codispoti A, Colombo E, Zocchi L, Serra V, Pertusi G, Leigheb G, Tiberio R, Bornacina G, Zuccoli R, Ramponi A, Campione E, Melino G, Terrinoni A
Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression.
Eur J Dermatol 2008 () - PubMed: 19106041

Cogulu O, Onay H, Aykut A, Wilson NJ, Smith FJ, Dereli T, Ozkinay F
Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view.
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Coleman CM, Hannush S, Covello SP, Smith FJ, Uitto J, McLean WH
A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy.
Am J Ophthalmol 1999 128(6) 687-691 PubMed: 10612503

Coleman CM, Munro CS, Smith FJ, Uitto J, McLean WH
Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif.
Br J Dermatol 1999 140(3) 486-490 PubMed: 10233272

Colomer J, Iturriaga C, Bonne G, Schwartz K, Manilal S, Morris GE, Puche M, Fernández-Alvarez E
Autosomal dominant Emery-Dreifuss muscular dystrophy: a new family with late diagnosis.
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Conley YP, Erturk D, Keverline A, Mah TS, Keravala A, Barnes LR, Bruchis A, Hess JF, FitzGerald PG, Weeks DE, Ferrell RE, Gorin MB
A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2.
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Connors JB, Rahil AK, Smith FJ, McLean WH, Milstone LM
Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16.
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Corden LD, Mellerio JE, Gratian MJ, Eady RA, Harper JI, Lacour M, Magee G, Lane EB, McGrath JA, McLean WH
Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex.
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Corden LD, Swensson O, Swensson B, Rochels R, Wannke B, Thiel HJ, McLean WH
A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy.
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Corden LD, Swensson O, Swensson B, Smith FJ, Rochels R, Uitto J, McLEAN WH
Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene.
Exp Eye Res 2000 70(1) 41-49 PubMed: 10644419

Coulombe PA, Hutton ME, Letai A, Hebert A, Paller AS, Fuchs E
Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses.
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Covello SP, Irvine AD, McKenna KE, Munro CS, Nevin NC, Smith FJ, Uitto J, McLean WH
Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland.
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Covello SP, Smith FJ, Sillevis Smitt JH, Paller AS, Munro CS, Jonkman MF, Uitto J, McLean WH
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.
Br J Dermatol 1998 139(3) 475-480 PubMed: 9767294

Cserhalmi-Friedman PB, Squeo R, Gordon D, Garzon M, Schneiderman P, Grossman ME, Christiano AM
Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene.
Clin Exp Dermatol 2000 25(3) 241-243 PubMed: 10844506

Csikós M, Holló P, Becker K, Rácz E, Horváth A, Kárpáti S
Novel N160I mutation of keratin 9 in a large pedigree from Hungary with epidermolytic palmoplantar keratoderma.
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Csikós M, Szalai Z, Becker K, Sebõk B, Schneider I, Horváth A, Kárpáti S
Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex.
Exp Dermatol 2004 13(3) 185-191 PubMed: 14987259

Csoka AB, Cao H, Sammak PJ, Constantinescu D, Schatten GP, Hegele RA
Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes.
J Med Genet 2004 41(4) 304-308 PubMed: 15060110

Cummins RE, Klingberg S, Wesley J, Rogers M, Zhao Y, Murrell DF
Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes.
J Invest Dermatol 2001 117(5) 1103-1107 PubMed: 11710919

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D

D'Amico A, Benedetti S, Petrini S, Sambuughin N, Boldrini R, Menditto I, Ferrari M, Verardo M, Goldfarb L, Bertini E
Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene.
Neuromuscul Disord 2005 15(12) 847-850 PubMed: 16288872

D'Amico A, Haliloglu G, Richard P, Talim B, Maugenre S, Ferreiro A, Guicheney P, Menditto I, Benedetti S, Bertini E, Bonne G, Topaloglu H
Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.
Neuromuscul Disord 2005 15(8) 521-524 PubMed: 15961312

D'Apice MR, Tenconi R, Mammi I, van den Ende J, Novelli G
Paternal origin of LMNA mutations in Hutchinson-Gilford progeria.
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Dagvadorj A, Goudeau B, Hilton-Jones D, Blancato JK, Shatunov A, Simon-Casteras M, Squier W, Nagle JW, Goldfarb LG, Vicart P
Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.
Muscle Nerve 2003 27(6) 669-675 PubMed: 12766977

Dagvadorj A, Olivé M, Urtizberea JA, Halle M, Shatunov A, Bönnemann C, Park KY, Goebel HH, Ferrer I, Vicart P, Dalakas MC, Goldfarb LG
A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin.
J Neurol 2004 251(2) 143-149 PubMed: 14991347

Dalakas MC, Dagvadorj A, Goudeau B, Park KY, Takeda K, Simon-Casteras M, Vasconcelos O, Sambuughin N, Shatunov A, Nagle JW, Sivakumar K, Vicart P, Goldfarb LG
Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations.
Neuromuscul Disord 2003 13(3) 252-258 PubMed: 12609507

Dalakas MC, Park KY, Semino-Mora C, Lee HS, Sivakumar K, Goldfarb LG
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
N Engl J Med 2000 342(11) 770-780 PubMed: 10717012

De Backer J, Van Beeumen K, Loeys B, Duytschaever M
Expanding the phenotype of sudden cardiac death-An unusual presentation of a family with a Lamin A/C mutation.
Int J Cardiol 2008 () - PubMed: 18691775

De Jonghe P, Mersivanova I, Nelis E, Del Favero J, Martin JJ, Van Broeckhoven C, Evgrafov O, Timmerman V
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.
Ann Neurol 2001 49(2) 245-249 PubMed: 11220745

De Sandre-Giovannoli A, Bernard R, Cau P, Navarro C, Amiel J, Boccaccio I, Lyonnet S, Stewart CL, Munnich A, Le Merrer M, Lévy N
Lamin a truncation in Hutchinson-Gilford progeria.
Science 2003 300(5628) 2055-2055 PubMed: 12702809

De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Lévy N
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.
Am J Hum Genet 2002 70(3) 726-736 PubMed: 11799477

Decaudain A, Vantyghem MC, Guerci B, Hécart AC, Auclair M, Reznik Y, Narbonne H, Ducluzeau PH, Donadille B, Lebbé C, Béréziat V, Capeau J, Lascols O, Vigouroux C
New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome.
J Clin Endocrinol Metab 2007 92(12) 4835-4844 PubMed: 17711925

Denecke J, Brune T, Feldhaus T, Robenek H, Kranz C, Auchus RJ, Agarwal AK, Marquardt T
A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS.
Hum Mutat 2006 27(6) 524-531 PubMed: 16671095

Djabali K, Panteleyev AA, Lalin T, Garzon MC, Longley BJ, Bickers DR, Zlotogorski A, Christiano AM
Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix.
Clin Exp Dermatol 2003 28(2) 206-210 PubMed: 12653715

Doh YJ, Kim HK, Jung ED, Choi SH, Kim JG, Kim BW, Lee IK
Novel LMNA Gene Mutation in a Patient With Atypical Werner's Syndrome.
Korean J Intern Med 2009 24(1) 68-72 PubMed: 19270485

Dong W, Ryynänen M, Uitto J
Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex.
Hum Mutat 1993 2(2) 94-102 PubMed: 7686424

Dotti MT, Buccoliero R, Lee A, Gorospe JR, Flint D, Galluzzi P, Bianchi S, D'Eramo C, Naidu S, Federico A, Brenner M
An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant.
J Neurol 2009 256(4) 679-682 PubMed: 19444543

Dunand M, Lobrinus JA, Jeannet PY, Behin A, Claeys KG, Selcen D, Kuntzer T
Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy.
Neuromuscul Disord 2009 () - PubMed: 19716701

Duparc A, Cintas P, Somody E, Bieth E, Richard P, Maury P, Delay M
A cardio-neurological form of laminopathy: dilated cardiomyopathy with permanent partial atrial standstill and axonal neuropathy.
Pacing Clin Electrophysiol 2009 32(3) 410-415 PubMed: 19272076

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E

Ehrlich P, Sybert VP, Spencer A, Stephens K
A common keratin 5 gene mutation in epidermolysis bullosa simplex--Weber-Cockayne.
J Invest Dermatol 1995 104(5) 877-879 PubMed: 7537780

Endo H, Hatamochi A, Shinkai H
A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma.
J Invest Dermatol 1997 109(1) 113-115 PubMed: 9204965

Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Nature 2003 423(6937) 293-298 PubMed: 12714972

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F

Fabrizi GM, Cavallaro T, Angiari C, Bertolasi L, Cabrini I, Ferrarini M, Rizzuto N
Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E.
Neurology 2004 62(8) 1429-1431 PubMed: 15111691

Fabrizi GM, Cavallaro T, Angiari C, Cabrini I, Taioli F, Malerba G, Bertolasi L, Rizzuto N
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.
Brain 2007 130(Pt 2) 394-403 PubMed: 17052987

Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, Atherton J, Vidaillet HJ, Spudich S, De Girolami U, Seidman JG, Seidman C, Muntoni F, Müehle G, Johnson W, McDonough B
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.
N Engl J Med 1999 341(23) 1715-1724 PubMed: 10580070

Felice KJ, Schwartz RC, Brown CA, Leicher CR, Grunnet ML
Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene.
Neurology 2000 55(2) 275-280 PubMed: 10908904

Feng A, Liu P, Yang T, Wang Y, Chen X, Liu M, Wang Q, Liu J
[Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix.]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008 25(2) 141-144 PubMed: 18393232

Feng YG, Xiao SX, Ren XR, Wang WQ, Liu A, Pan M
Keratin 17 mutation in pachyonychia congenita type 2 with early onset sebaceous cysts.
Br J Dermatol 2003 148(3) 452-455 PubMed: 12653736

Fernández X, Dumont CA, Monserrat L, Hermida-Prieto M, Castro-Beiras A
Sudden death in a patient with lamin A/C gene mutation and near normal left ventricular systolic function.
Int J Cardiol 2007 () - PubMed: 17442430

Fidziańska A, Kotowicz J, Sadowska M, Goudeau B, Walczak E, Vicart P, Hausmanowa-Petrusewicz I
A novel desmin R355P mutation causes cardiac and skeletal myopathy.
Neuromuscul Disord 2005 15(8) 525-531 PubMed: 16009553

Figlewicz DA, Krizus A, Martinoli MG, Meininger V, Dib M, Rouleau GA, Julien JP
Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis.
Hum Mol Genet 1994 3(10) 1757-1761 PubMed: 7849698

Figlewicz DA, Rouleau GA, Krizus A, Julien JP
Polymorphism in the multi-phosphorylation domain of the human neurofilament heavy-subunit-encoding gene.
Gene 1993 132(2) 297-300 PubMed: 8224877

Flohil SC, Bolling MC, Kooi KA, Lemmink HH, Jonkman MF
A new pathogenic keratin 5 mutation in a Hindoestan family with localized epidermolysis bullosa simplex.
Eur J Dermatol 2009 () - PubMed: 19797037

Forissier JE, Bonne G, Bouchier C, Duboscq-Bidot L, Richard P, Briault S, Moraine C, Dubourg O, Schwartz K, Komajda M
[Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation]
Arch Mal Coeur Vaiss 2005 98(1) 67-70 PubMed: 15724423

Forissier JF, Bonne G, Bouchier C, Duboscq-Bidot L, Richard P, Wisnewski C, Briault S, Moraine C, Dubourg O, Schwartz K, Komajda M
Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation.
Eur J Heart Fail 2003 5(6) 821-825 PubMed: 14675861

Frangu M, Gedde-Dahl T, Verder H
[Epidermolysis bullosa simplex Dowling-Meara]
Ugeskr Laeger 2006 168(48) 4222-4224 PubMed: 17147951

Fujimori Y, Okimatsu H, Kashiwagi T, Sanda N, Okumura K, Takagi A, Nagata K, Murate T, Uchida A, Node K, Saito H, Kojima T
Molecular defects associated with antithrombin deficiency and dilated cardiomyopathy in a Japanese patient.
Intern Med 2008 47(10) 925-931 PubMed: 18480576

Fujimoto W, Nakanishi G, Hirakawa S, Nakanishi T, Shimo T, Takigawa M, Arata J
Pachyonychia congenita type 2: keratin 17 mutation in a Japanese case.
J Am Acad Dermatol 1998 38(6 Pt 1) 1007-1009 PubMed: 9632020

Fukuchi K, Katsuya T, Sugimoto K, Kuremura M, Kim HD, Li L, Ogihara T
LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome.
J Med Genet 2004 41(5) e67-e67 PubMed: 15121795

Funakushi N, Mayuzumi N, Sugimura R, Ikeda S
Epidermolytic palmoplantar keratoderma with constriction bands on bilateral fifth toes.
Arch Dermatol 2009 145(5) 609-610 PubMed: 19451521

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G

Gach JE, Munro CS, Lane EB, Wilson NJ, Moss C
Two families with Greither's syndrome caused by a keratin 1 mutation.
J Am Acad Dermatol 2005 53(5 Suppl 1) S225-S230 PubMed: 16227096

Galligan P, Listwan P, Siller GM, Rothnagel JA
A novel mutation in the L12 domain of keratin 5 in the Köbner variant of epidermolysis bullosa simplex.
J Invest Dermatol 1998 111(3) 524-527 PubMed: 9740251

Gambineri A, Semple RK, Forlani G, Genghini S, Grassi I, Hyden CS, Pagotto U, O'Rahilly S, Pasquali R
Monogenic polycystic ovary syndrome due to a mutation in the lamin A/C gene is sensitive to thiazolidinediones but not to metformin.
Eur J Endocrinol 2008 159(3) 347-353 PubMed: 18728124

Garcia ML, Singleton AB, Hernandez D, Ward CM, Evey C, Sapp PA, Hardy J, Brown RH, Cleveland DW
Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis.
Neurobiol Dis 2006 21(1) 102-109 PubMed: 16084104

García-Rio I, Peñas PF, García-Díez A, McLean WH, Smith FJ
A severe case of pachyonychia congenita type I due to a novel proline mutation in keratin 6a.
Br J Dermatol 2005 152(4) 800-802 PubMed: 15840119

Garg A, Cogulu O, Ozkinay F, Onay H, Agarwal AK
A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia.
J Clin Endocrinol Metab 2005 90(9) 5259-5264 PubMed: 15998779

Garg A, Speckman RA, Bowcock AM
Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene.
Am J Med 2002 112(7) 549-555 PubMed: 12015247

Garg A, Subramanyam L, Agarwal AK, Simha V, Levine B, D'Apice MR, Novelli G, Crow Y
Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations.
J Clin Endocrinol Metab 2009 () - PubMed: 19875478

Gass JK, Wilson NJ, Smith FJ, Lane EB, McLean WH, Rytina E, Salvary I, Burrows NP
Steatocystoma multiplex, oligodontia and partial persistent primary dentition associated with a novel keratin 17 mutation.
Br J Dermatol 2009 () - PubMed: 19659471

Genschel J, Baier P, Kuepferling S, Proepsting MJ, Buettner C, Ewert R, Hetzer R, Lochs H, Schmidt HH
A new frameshift mutation at codon 466 (1397delA) within the LMNA gene.
Hum Mutat 2000 16(3) 278-278 PubMed: 10980552

Genschel J, Bochow B, Kuepferling S, Ewert R, Hetzer R, Lochs H, Schmidt H
A R644C mutation within lamin A extends the mutations causing dilated cardiomyopathy.
Hum Mutat 2001 17(2) 154-154 PubMed: 11180602

Georgiou DM, Zidar J, Korosec M, Middleton LT, Kyriakides T, Christodoulou K
A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family.
Neurogenetics 2002 4(2) 93-96 PubMed: 12481988

Glász-Bóna A, Medvecz M, Sajó R, Lepesi-Benko R, Tulassay Z, Katona M, Hatvani Z, Blazsek A, Kárpáti S
Easy method for keratin 14 gene amplification to exclude pseudogene sequences: new keratin 5 and 14 mutations in epidermolysis bullosa simplex.
J Invest Dermatol 2009 129(1) 229-231 PubMed: 18704110

Goh BK, Common JE, Gan WH, Kumarasinghe P
A case of dermatopathia pigmentosa reticularis with wiry scalp hair and digital fibromatosis resulting from a recurrent KRT14 mutation.
Clin Exp Dermatol 2009 34(3) 340-343 PubMed: 19040520

Goizet C, Yaou RB, Demay L, Richard P, Bouillot S, Rouanet M, Hermosilla E, Le Masson G, Lagueny A, Bonne G, Ferrer X
A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia.
J Med Genet 2004 41(3) e29-e29 PubMed: 14985400

Goldfarb LG, Park KY, Cervenáková L, Gorokhova S, Lee HS, Vasconcelos O, Nagle JW, Semino-Mora C, Sivakumar K, Dalakas MC
Missense mutations in desmin associated with familial cardiac and skeletal myopathy.
Nat Genet 1998 19(4) 402-403 PubMed: 9697706

Gorospe JR, Naidu S, Johnson AB, Puri V, Raymond GV, Jenkins SD, Pedersen RC, Lewis D, Knowles P, Fernandez R, De Vivo D, van der Knaap MS, Messing A, Brenner M, Hoffman EP
Molecular findings in symptomatic and pre-symptomatic Alexander disease patients.
Neurology 2002 58(10) 1494-1500 PubMed: 12034785

Goudeau B, Dagvadorj A, Rodrigues-Lima F, Nédellec P, Casteras-Simon M, Perret E, Langlois S, Goldfarb L, Vicart P
Structural and functional analysis of a new desmin variant causing desmin-related myopathy.
Hum Mutat 2001 18(5) 388-396 PubMed: 11668632

Goudeau B, Rodrigues-Lima F, Fischer D, Casteras-Simon M, Sambuughin N, de Visser M, Laforet P, Ferrer X, Chapon F, Sjöberg G, Kostareva A, Sejersen T, Dalakas MC, Goldfarb LG, Vicart P
Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.
Hum Mutat 2006 27(9) 906-913 PubMed: 16865695

Grimberg G, Hausser I, Müller FB, Wodecki K, Schaffrath C, Krieg T, Oji V, Traupe H, Arin MJ
Novel and recurrent mutations in the 1B domain of keratin 1 in palmoplantar keratoderma with tonotubules.
Br J Dermatol 2009 160(2) 446-449 PubMed: 18795921

Gros-Louis F, Larivière R, Gowing G, Laurent S, Camu W, Bouchard JP, Meininger V, Rouleau GA, Julien JP
A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis.
J Biol Chem 2004 279(44) 45951-45956 PubMed: 15322088

Gruber R, Wilson NJ, Smith FJ, Grabher D, Steinwender L, Fritsch PO, Schmuth M
Increased pachyonychia congenita severity in patients with concurrent keratin and filaggrin mutations.
Br J Dermatol 2009 () - PubMed: 19785597

Gu LH, Ichiki Y, Sato M, Kitajima Y
A novel nonsense mutation at E106 of the 2B rod domain of keratin 14 causes dominant epidermolysis bullosa simplex.
J Dermatol 2002 29(3) 136-145 PubMed: 11990248

Gu LH, Kim SC, Ichiki Y, Park J, Nagai M, Kitajima Y
A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema.
J Invest Dermatol 2003 121(3) 482-485 PubMed: 12925204

Guthrie SO, Burton EM, Knowles P, Marshall R
Alexander's disease in a neurologically normal child: a case report.
Pediatr Radiol 2003 33(1) 47-49 PubMed: 12497239

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H

Hachisuka H, Morita M, Karashima T, Sasai Y
Keratin 14 gene point mutation in the Köbner and Dowling-Meara types of epidermolysis bullosa simplex as detected by the PASA method.
Arch Dermatol Res 1995 287(2) 142-145 PubMed: 7539246

Halangk J, Berg T, Puhl G, Mueller T, Nickel R, Kage A, Landt O, Luck W, Wiedenmann B, Neuhaus P, Witt H
Keratin 8 Y54H and G62C mutations are not associated with liver disease.
J Med Genet 2004 41(7) e92-e92 PubMed: 15235035

Hamada T, Ishii N, Karashima T, Kawano Y, Yasumoto S, Hashimoto T
The common KRT9 gene mutation in a Japanese patient with epidermolytic palmoplantar keratoderma and knuckle pad-like keratoses.
J Dermatol 2005 32(6) 500-502 PubMed: 16043929

Hamada T, Ishii N, Kawano Y, Takahashi Y, Inoue M, Yasumoto S, Hashimoto T
The P25L mutation in the KRT5 gene in a Japanese family with epidermolysis bullosa simplex with mottled pigmentation.
Br J Dermatol 2004 150(3) 609-611 PubMed: 15030360

Hamada T, Kawano Y, Szczecinska W, Wozniak K, Yasumoto S, Kowalewski C, Hashimoto T
Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland.
Arch Dermatol Res 2005 296(12) 577-579 PubMed: 15827748

Hamadouche T, Poitelon Y, Genin E, Chaouch M, Tazir M, Kassouri N, Nouioua S, Chaouch A, Boccaccio I, Benhassine T, De Sandre-Giovannoli A, Grid D, Lévy N, Delague V
Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa.
Ann Hum Genet 2008 72(Pt 5) 590-597 PubMed: 18549403

Han S, Cooper DN, Bowden PE
Utilization of a cryptic noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis bullosa simplex.
Br J Dermatol 2006 155(1) 201-203 PubMed: 16792776

Hanisch F, Neudecker S, Wehnert M, Zierz S
[Hauptmann-Thannhauser muscular dystrophy and differential diagnosis of myopathies associated with contractures]
Nervenarzt 2002 73(10) 1004-1011 PubMed: 12376891

Harel A, Bergman R, Indelman M, Sprecher E
Epidermolysis bullosa simplex with mottled pigmentation resulting from a recurrent mutation in KRT14.
J Invest Dermatol 2006 126(7) 1654-1657 PubMed: 16601668

Hartmann H, Herchenbach J, Stephani U, Ledaal P, Donnerstag F, Lücke T, Das AM, Christen HJ, Hagedorn M, Meins M
Novel Mutations in Exon 6 of the GFAP Gene Affect a Highly Conserved IF Motif in the Rod Domain 2B and are Associated with Early Onset Infantile Alexander Disease.
Neuropediatrics 2007 38(3) 143-147 PubMed: 17985264

Haruna K, Suga Y, Mizuno Y, Hasegawa T, Kourou K, Matsuba S, Muramatsu S, Ikeda S
R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosis.
J Dermatol 2007 34(8) 545-548 PubMed: 17683385

Has C, Chang YR, Volz A, Hoeping D, Kohlhase J, Bruckner-Tuderman L
Novel keratin 14 mutations in patients with severe recessive epidermolysis bullosa simplex.
J Invest Dermatol 2006 126(8) 1912-1914 PubMed: 16614722

Hashiguchi T, Yotsumoto S, Shimada H, Terasaki K, Setoyama M, Kobayashi K, Saheki T, Kanzaki T
A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2.
J Invest Dermatol 2002 118(3) 545-547 PubMed: 11874497

Hatsell SJ, Eady RA, Wennerstrand L, Dopping-Hepenstal P, Leigh IM, Munro C, Kelsell DP
Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds.
J Invest Dermatol 2001 116(4) 606-609 PubMed: 11286630

Hattori N, Komine M, Kaneko T, Shimazu K, Tsunemi Y, Koizumi M, Goto J, Hashimoto T
A case of epidermolysis bullosa simplex with a newly found missense mutation and polymorphism in the highly conserved helix termination motif among type I keratins, which was previously reported as a pathogenic missense mutation.
Br J Dermatol 2006 155(5) 1062-1063 PubMed: 17034543

He XH, Zhang XN, Mao W, Chen HP, Xu LR, Chen H, He XL, Le YP
A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma.
Br J Dermatol 2004 150(4) 647-651 PubMed: 15099359

Hegele RA, Al-Attar SA, Rutt BK
Obstructive sleep apnea in 2 women with familial partial lipodystrophy due to a heterozygous LMNA R482Q mutation.
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Hegele RA, Anderson CM, Cao H
Lamin A/C mutation in a woman and her two daughters with Dunnigan-type partial lipodystrophy and insulin resistance.
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Hegele RA, Cao H, Anderson CM, Hramiak IM
Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy.
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Hegele RA, Cao H, Liu DM, Costain GA, Charlton-Menys V, Rodger NW, Durrington PN
Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy.
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Hegele RA, Huff MW, Young TK
Common genomic variation in LMNA modulates indexes of obesity in Inuit.
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Hegele RA, Yuen J, Cao H
Single-nucleotide polymorphisms of the nuclear lamina proteome.
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Hennies HC, Zehender D, Kunze J, Küster W, Reis A
Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma.
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Hermida-Prieto M, Monserrat L, Castro-Beiras A, Laredo R, Soler R, Peteiro J, Rodríguez E, Bouzas B, Alvarez N, Muñiz J, Crespo-Leiro M
Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.
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Hershberger RE, Hanson EL, Jakobs PM, Keegan H, Coates K, Bousman S, Litt M
A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation.
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Hesse M, Berg T, Wiedenmann B, Spengler U, Woitas RP, Magin TM
A frequent keratin 8 p.L227L polymorphism, but no point mutations in keratin 8 and 18 genes, in patients with various liver disorders.
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Hinttala R, Karttunen V, Karttunen A, Herva R, Uusimaa J, Remes AM
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Hirayama T, Fukae J, Noda K, Fujishima K, Yamamoto T, Mori K, Maeda M, Hattori N, Shiroma N, Tsurui S, Okuma Y
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Eur J Neurol 2008 15(2) e16-e17 PubMed: 18217876

Hong JS, Ki CS, Kim JW, Suh YL, Kim JS, Baek KK, Kim BJ, Ahn KJ, Kim DK
Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B.
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Hookana E, Junttila MJ, Särkioja T, Sormunen R, Niemelä M, Raatikainen MJ, Uusimaa P, Lizotte E, Peuhkurinen K, Brugada R, Huikuri HV
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De novo mutations in monilethrix.
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Horev L, Glaser B, Metzker A, Ben-Amitai D, Vardy D, Zlotogorski A
Monilethrix: mutational hotspot in the helix termination motif of the human hair basic keratin 6.
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Horiguchi Y, Sawamura D, Mori R, Nakamura H, Takahashi K, Shimizu H
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Horn HM, Tidman MJ
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Hovnanian A, Pollack E, Hilal L, Rochat A, Prost C, Barrandon Y, Goossens M
A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.
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Howard KL, Hall DA, Moon M, Agarwal P, Newman E, Brenner M
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Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex--increased severity of disease in a homozygote.
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Humphries MM, Mansergh FC, Kiang AS, Jordan SA, Sheils DM, Martin MJ, Farrar GJ, Kenna PF, Young MM, Humphries P
Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland.
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Humphries MM, Sheils DM, Farrar GJ, Kumar-Singh R, Kenna PF, Mansergh FC, Jordan SA, Young M, Humphries P
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Imachi H, Murao K, Ohtsuka S, Fujiwara M, Muraoka T, Hosokawa H, Ishida T
A case of Dunnigan-type familial partial lipodystrophy (FPLD) due to lamin A/C (LMNA) mutations complicated by end-stage renal disease.
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A novel recessive missense mutation in KRT14 reveals striking phenotypic heterogeneity in epidermolysis bullosa simplex.
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Iorizzo M, Vincenzi C, Smith FJ, Wilson NJ, Tosti A
Pachyonychia congenita type I presenting with subtle nail changes.
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A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy.
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Irvine AD, Corden LD, Swensson O, Swensson B, Moore JE, Frazer DG, Smith FJ, Knowlton RG, Christophers E, Rochels R, Uitto J, McLean WH
Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy.
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Irvine AD, McKenna KE, Bingham A, Nevin NC, Hughes AE
A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara.
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Irvine AD, McKenna KE, Jenkinson H, Hughes AE
A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation.
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Irvine AD, Rugg EL, Lane EB, Hoare S, Peret C, Hughes AE, Heagerty AH
Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation.
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Irvine AD, Smith FJ, Shum KW, Williams HC, McLean WH
A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens.
Clin Exp Dermatol 2000 25(8) 648-651 PubMed: 11167982

Isaacs A, Baker M, Wavrant-De Vrièze F, Hutton M
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Ishigaki K, Ito Y, Sawaishi Y, Kodaira K, Funatsuka M, Hattori N, Nakano K, Saito K, Osawa M
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Ishii N, Hamada T, Yasumoto S, Hashimoto T
A case of epidermolytic hyperkeratosis with no facial involvement associated with mutation in keratin 10.
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Ishiko A, Akiyama M, Takizawa Y, Nishikawa T, Shimizu Y, Shimizu H
A novel leucine to valine mutation in residue 7 of the helix initiation motif of keratin10 leads to bullous congenital ichthyosiform erythroderma.
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J

Jacob KN, Baptista F, dos Santos HG, Oshima J, Agarwal AK, Garg A
Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/C mutation.
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Jakobs PM, Hanson EL, Crispell KA, Toy W, Keegan H, Schilling K, Icenogle TB, Litt M, Hershberger RE
Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.
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Jakobs PM, Hess JF, FitzGerald PG, Kramer P, Weleber RG, Litt M
Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2.
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Joh GY, Traupe H, Metze D, Nashan D, Huber M, Hohl D, Longley MA, Rothnagel JA, Roop DR
A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma.
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A new keratin 2e mutation in ichthyosis bullosa of Siemens.
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Jonkman MF, Heeres K, Pas HH, van Luyn MJ, Elema JD, Corden LD, Smith FJ, McLean WH, Ramaekers FC, Burton M, Scheffer H
Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex.
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Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos SCh, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman V
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
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K

Kabzińska D, Perez-Olle R, Goryunov D, Drac H, Ryniewicz B, Hausmanowa-Petrusewicz I, Kochański A, Liem RK
Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models.
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Kaminska A, Strelkov SV, Goudeau B, Olivé M, Dagvadorj A, Fidzianska A, Simon-Casteras M, Shatunov A, Dalakas MC, Ferrer I, Kwiecinski H, Vicart P, Goldfarb LG
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Kanda M, Natsuga K, Nishie W, Akiyama M, Nagasaki A, Shimizu T, Shimizu H
Morphological and genetic analysis of steatocystoma multiplex in an Asian family with pachyonychia congenita type 2 harbouring a KRT17 missense mutation.
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Kandert S, Wehnert M, Müller CR, Buendia B, Dabauvalle MC
Impaired nuclear functions lead to increased senescence and inefficient differentiation in human myoblasts with a dominant p.R545C mutation in the LMNA gene.
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Kaneko H, Hirose M, Katada S, Takahashi T, Naruse S, Tsuchiya M, Yoshida T, Nakagawa M, Onodera O, Nishizawa M, Ikeuchi T
Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia.
Mov Disord 2009 24(9) 1393-1395 PubMed: 19412928

Kang XJ, Sun M, Yang W, Yu M, Ju Q, Lo WH, Xia LQ, Zhang X
[A de nono I462S mutation in the KRT6A gene is associated with pachyonychia congenita type I]
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Kärkkäinen S, Heliö T, Miettinen R, Tuomainen P, Peltola P, Rummukainen J, Ylitalo K, Kaartinen M, Kuusisto J, Toivonen L, Nieminen MS, Laakso M, Peuhkurinen K
A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy.
Eur Heart J 2004 25(10) 885-893 PubMed: 15140538

Kärkkäinen S, Reissell E, Heliö T, Kaartinen M, Tuomainen P, Toivonen L, Kuusisto J, Kupari M, Nieminen MS, Laakso M, Peuhkurinen K
Novel mutations in the lamin A/C gene in heart transplant recipients with end stage dilated cardiomyopathy.
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Kawai M, Sakai N, Miyake S, Tsukamoto H, Akagi M, Inui K, Mushiake S, Taniike M, Ozono K
Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease.
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Keller J, Subramanyam L, Simha V, Gustofson R, Minjarez D, Garg A
Lipodystrophy: an unusual diagnosis in a case of oligomenorrhea and hirsutism.
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Kemp MW, Klingberg S, Lloyd L, Molloy TJ, Marr P, Wang Y, Murrell GA, Murrell DF
A novel deletion mutation in keratin 5 causing the removal of 5 amino acids and elevated mutant mRNA levels in Dowling-Meara epidermolysis bullosa simplex.
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Khandpur S, Bairwa NK, Reddy BS, Bamezai R
A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin.
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Khanlou N, Mathern GW, Mitchell WG, Salamon N, Pope WB, Yong WH, Vinters HV
Cortical dysplasia with prominent Rosenthal fiber formation in a case of intractable pediatric epilepsy.
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Ki CS, Hong JS, Jeong GY, Ahn KJ, Choi KM, Kim DK, Kim JW
Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.
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Kim HY, Ki CS, Kang SJ, Khang SK, Koh SH, Kim DW, Kim SH, Sung IH
A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy.
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Kimonis V, DiGiovanna JJ, Yang JM, Doyle SZ, Bale SJ, Compton JG
A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma.
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Kinoshita T, Imaizumi T, Miura Y, Fujimoto H, Ayabe M, Shoji H, Okamoto Y, Takashima H, Osame M, Nakagawa M
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Kirschner J, Brune T, Wehnert M, Denecke J, Wasner C, Feuer A, Marquardt T, Ketelsen UP, Wieacker P, Bönnemann CG, Korinthenberg R
p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.
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Kitaguchi T, Matsubara S, Sato M, Miyamoto K, Hirai S, Schwartz K, Bonne G
A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block.
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Kobayashi S, Tanaka T, Matsuyoshi N, Imamura S
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A novel mutation of keratin 9 gene (R162P) in a Japanese family with epidermolytic palmoplantar keratoderma.
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Kon A, Ito N, Kudo Y, Nomura K, Yoneda K, Hanada K, Hashimoto I, Takagaki K
L457F missense mutation within the 2B rod domain of keratin 9 in a Japanese family with epidermolytic palmoplantar keratoderma.
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Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype.
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Korge BP, Healy E, Munro CS, Pünter C, Birch-Machin M, Holmes SC, Darlington S, Hamm H, Messenger AG, Rees JL, Traupe H
A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients.
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Korge BP, Healy E, Traupe H, Pünter C, Mauch C, Hamm H, Birch-Machin MA, Belgaid CE, Stephenson AM, Holmes SC, Darlington S, Messenger AG, Rees JL, Munro CS
Point mutation in the helix termination peptide (HTP) of human type II hair keratin hHb6 causes monilethrix in five families.
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Kosho T, Takahashi J, Momose T, Nakamura A, Sakurai A, Wada T, Yoshida K, Wakui K, Suzuki T, Kasuga K, Nishimura G, Kato H, Fukushima Y
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Kowalewski C, Hamada T, Wozniak K, Kawano Y, Szczecinska W, Yasumoto S, Schwartz RA, Hashimoto T
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Kremer H, Lavrijsen AP, McLean WH, Lane EB, Melchers D, Ruiter DJ, Mariman EC, Steijlen PM
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Kremer H, Zeeuwen P, McLean WH, Mariman EC, Lane EB, van de Kerkhof CM, Ropers HH, Steijlen PM
Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene.
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Keratins as susceptibility genes for end-stage liver disease.
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Ku NO, Wright TL, Terrault NA, Gish R, Omary MB
Mutation of human keratin 18 in association with cryptogenic cirrhosis.
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Bullous congenital ichthyosiform erythroderma of Brocq.
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Küster W, Reis A, Hennies HC
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L

Lane EB, Rugg EL, Navsaria H, Leigh IM, Heagerty AH, Ishida-Yamamoto A, Eady RA
A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering.
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Lanktree M, Cao H, Rabkin SW, Hanna A, Hegele RA
Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).
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Lanschuetzer CM, Klausegger A, Pohla-Gubo G, Hametner R, Richard G, Uitto J, Hintner H, Bauer JW
A novel homozygous nonsense deletion/insertion mutation in the keratin 14 gene (Y248X; 744delC/insAG) causes recessive epidermolysis bullosa simplex type Köbner.
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Lassuthová P, Baránková L, Kraus J, Maríková T, Seeman P
Emery-Dreifuss muscular dystrophy: a novel mutation in the LMNA gene.
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Lavedan C, Buchholtz S, Nussbaum RL, Albin RL, Polymeropoulos MH
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Lee JH, Ahn KS, Lee CH, Youn SJ, Kim JW, Lee DY, Lee ES, Steinert PM, Yang JM
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Leung CL, Nagan N, Graham TH, Liem RK
A novel duplication/insertion mutation of NEFL in a patient with Charcot-Marie-Tooth disease.
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Li D, Tapscoft T, Gonzalez O, Burch PE, Quiñones MA, Zoghbi WA, Hill R, Bachinski LL, Mann DL, Roberts R
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Li JG, Feng J, Xiao SX, Ai YL, Wang JM, Peng ZH
A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex.
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Li M, Yang LJ, Hua HK, Zhu XH, Dai XY
Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family.
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Li M, Zhang GL, Zhai JX, Wei L, Zhu XH, Dai XY, Yang LJ
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Li X, Xiao S, Peng Z, Liu Y, Pan M, Zhou S
A mutation in exon 1 of keratin 14 resulting in a Chinese family with epidermolysis bullosa simplex Dowling-Meara.
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Liang L, Zhang H, Gu X
Homozygous LMNA mutation R527C in atypical Hutchinson-Gilford progeria syndrome: evidence for autosomal recessive inheritance.
Acta Paediatr 2009 98(8) 1365-1368 PubMed: 19432833

Liang WC, Yuo CY, Liu CY, Lee CS, Goto K, Hayashi YK, Jong YJ
Novel LMNA mutation in a Taiwanese family with autosomal dominant Emery-Dreifuss muscular dystrophy.
J Formos Med Assoc 2007 106(2 Suppl) S27-S31 PubMed: 17493893

Liao H, Sayers JM, Wilson NJ, Irvine AD, Mellerio JE, Baselga E, Bayliss SJ, Uliana V, Fimiani M, Lane EB, McLean WH, Leachman SA, Smith FJ
A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.
J Dermatol Sci 2007 () - PubMed: 17719747

Liao H, Zhao Y, Baty DU, McGrath JA, Mellerio JE, McLean WH
A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease.
J Invest Dermatol 2007 127(2) 298-300 PubMed: 16917491

Lin JH, Lin MH, Yang MH, Chao SC
A novel keratin 9 gene mutation (Asn160His) in a Taiwanese family with epidermolytic palmoplantar keratoderma.
Clin Exp Dermatol 2004 29(3) 308-310 PubMed: 15115518

Lin MT, Levy ML, Bowden PE, Magro C, Baden L, Baden HP, Roop DR
Identification of sporadic mutations in the helix initiation motif of keratin 6 in two pachyonychia congenita patients: further evidence for a mutational hot spot.
Exp Dermatol 1999 8(2) 115-119 PubMed: 10232401

Liovic M, Bowden PE, Marks R, Komel R
A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype.
Exp Dermatol 2004 13(5) 332-334 PubMed: 15140024

Liovic M, Podrumac B, Dragos V, Vouk K, Komel R
K5 D328E: a novel missense mutation in the linker 12 domain of keratin 5 associated with epidermolysis bullosa simplex (Weber-Cockayne).
Hum Hered 2000 50(4) 234-236 PubMed: 10782015

Liovic M, Stojan J, Bowden PE, Gibbs D, Vahlquist A, Lane EB, Komel R
A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes.
J Invest Dermatol 2001 116(6) 964-969 PubMed: 11407988

Liu XP, Ling J, Xiong H, Shi XL, Sun X, Pan Q, Hu ZM, Wu LQ, Liang DS, Long ZG, Dai HP, Xia JH, Xia K
Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree.
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Liu Y, Peng ZH, Xiao SX, Wang J, Geng S, Zhou X, Li X, Pan M, Lei X
A novel mutation of the keratin 1 gene in a family with epidermolytic hyperkeratosis.
J Dermatol Sci 2006 43(2) 143-145 PubMed: 16677804

Livingston RJ, Sybert VP, Smith LT, Dale BA, Presland RB, Stephens K
Expression of a truncated keratin 5 may contribute to severe palmar--plantar hyperkeratosis in epidermolysis bullosa simplex patients.
J Invest Dermatol 2001 116(6) 970-974 PubMed: 11407989

Lombardi F, Gullotta F, Columbaro M, Filareto A, D'Adamo M, Vielle A, Guglielmi V, Nardone AM, Azzolini V, Grosso E, Lattanzi G, D'Apice MR, Masala S, Maraldi NM, Sbraccia P, Novelli G
Compound Heterozygosity for Mutations in LMNA in a Patient with a Myopathic and Lipodystrophic Mandibuloacral Dysplasia Type A Phenotype.
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Lu Y, Guo C, Liu Q, Zhang X, Cheng L, Li J, Chen B, Gao G, Zhou H, Guo Y, Li Y, Gong Y
A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads.
Am J Med Genet A 2003 120(3) 345-349 PubMed: 12838553

Lüdtke A, Genschel J, Brabant G, Bauditz J, Taupitz M, Koch M, Wermke W, Worman HJ, Schmidt HH
Hepatic steatosis in Dunnigan-type familial partial lipodystrophy.
Am J Gastroenterol 2005 100(10) 2218-2224 PubMed: 16181372

Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
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Lv YM, Yang S, Zhang Z, Cui Y, Quan C, Zhou FS, Fang QY, Du WH, Zhang FR, Chang JM, Tao XP, Zhang AL, Kang RH, Du WD, Zhang XJ
Novel and recurrent keratin 6A (KRT6A) mutations in Chinese patients with pachyonychia congenita type 1.
Br J Dermatol 2009 160(6) 1327-1329 PubMed: 19416275

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M

Ma HW, Lu JF, Jiang J, Chen LY, Niu GH, Wu BM, Kanazawa N, Tsujino S
[Glial fibrillary acidic protein mutation in a Chinese girl with infantile Alexander disease]
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MacLeod HM, Culley MR, Huber JM, McNally EM
Lamin A/C truncation in dilated cardiomyopathy with conduction disease.
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Madej-Pilarczyk A, Kmieć T, Fidziańska A, Rękawek J, Niebrój-Dobosz I, Turska-Kmieć A, Nestorowicz K, Jóźwiak S, Hausmanowa-Petrusewicz I
Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation.
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Madej-Pilarczyk A, Rosińska-Borkowska D, Rekawek J, Marchel M, Szaluś E, Jabłońska S, Hausmanowa-Petrusewicz I
Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation.
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Maioli MA, Marrosu G, Mateddu A, Solla E, Carboni N, Tacconi P, Lai C, Marrosu MG
A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype.
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Makri S, Clarke NF, Richard P, Maugenre S, Demay L, Bonne G, Guicheney P
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.
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Matej R, Dvoráková L, Mrázová L, Houst'ková H, Elleder M
Early onset Alexander disease: a case report with evidence for manifestation of the disorder in neurohypophyseal pituicytes.
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Math A, Frank J, Handisurya A, Poblete-Gutiérrez P, Slupetzky K, Födinger D, Winter D, Stingl G, Kirnbauer R
Identification of a de novo keratin 1 mutation in epidermolytic hyperkeratosis with palmoplantar involvement.
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Matsuki M, Hashimoto K, Yoshikawa K, Yasuno H, Yamanishi K
Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to Val in Linker 12 domain of keratin 5.
Hum Mol Genet 1995 4(10) 1999-2000 PubMed: 8595431

Mayuzumi N, Shigihara T, Ikeda S, Ogawa H
R162W mutation of keratin 9 in a family with autosomal dominant palmoplantar keratoderma with unique histologic features.
J Investig Dermatol Symp Proc 1999 4(2) 150-152 PubMed: 10536990

Mayuzumi N, Shigihara T, Ikeda S, Ogawa H
Recurrent R156H mutation of KRT10 in a Japanese family with bullous congenital ichthyosiform erythroderma.
J Eur Acad Dermatol Venereol 2000 14(4) 304-306 PubMed: 11204523

Mazereeuw-Hautier J, Wilson LC, Mohammed S, Smallwood D, Shackleton S, Atherton DJ, Harper JI
Hutchinson-Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature.
Br J Dermatol 2007 156(6) 1308-1314 PubMed: 17459035

McLean WH, Eady RA, Dopping-Hepenstal PJ, McMillan JR, Leigh IM, Navsaria HA, Higgins C, Harper JI, Paige DG, Morley SM
Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).
J Invest Dermatol 1994 102(1) 24-30 PubMed: 7507152

McLean WH, Morley SM, Higgins C, Bowden PE, White M, Leigh IM, Lane EB
Novel and recurrent mutations in keratin 10 causing bullous congenital ichthyosiform erythroderma.
Exp Dermatol 1999 8(2) 120-123 PubMed: 10232402

McLean WH, Morley SM, Lane EB, Eady RA, Griffiths WA, Paige DG, Harper JI, Higgins C, Leigh IM
Ichthyosis bullosa of Siemens--a disease involving keratin 2e.
J Invest Dermatol 1994 103(3) 277-281 PubMed: 7521371

McLean WH, Rugg EL, Lunny DP, Morley SM, Lane EB, Swensson O, Dopping-Hepenstal PJ, Griffiths WA, Eady RA, Higgins C
Keratin 16 and keratin 17 mutations cause pachyonychia congenita.
Nat Genet 1995 9(3) 273-278 PubMed: 7539673

McPherson E, Turner L, Zador I, Reynolds K, Macgregor D, Giampietro PF
Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation.
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Meins M, Brockmann K, Yadav S, Haupt M, Sperner J, Stephani U, Hanefeld F
Infantile Alexander disease: a GFAP mutation in monozygotic twins and novel mutations in two other patients.
Neuropediatrics 2002 33(4) 194-198 PubMed: 12368989

Mercuri E, Brown SC, Nihoyannopoulos P, Poulton J, Kinali M, Richard P, Piercy RJ, Messina S, Sewry C, Burke MM, McKenna W, Bonne G, Muntoni F
Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene.
Muscle Nerve 2005 31(5) 602-609 PubMed: 15770669

Mercuri E, Manzur AY, Jungbluth H, Bonne G, Muchir A, Sewry C, Schwartz K, Muntoni F
Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2).
Neurology 2000 54(8) 1704-1705 PubMed: 10762524

Mercuri E, Poppe M, Quinlivan R, Messina S, Kinali M, Demay L, Bourke J, Richard P, Sewry C, Pike M, Bonne G, Muntoni F, Bushby K
Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.
Arch Neurol 2004 61(5) 690-694 PubMed: 15148145

Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.
Am J Hum Genet 2000 67(1) 37-46 PubMed: 10841809

Michael EJ, Schneiderman P, Grossman ME, Christiano AM
Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene.
Exp Dermatol 1999 8(6) 501-503 PubMed: 10597140

Millat G, Chanavat V, Julia S, Crehalet H, Bouvagnet P, Rousson R
Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene.
Clin Biochem 2009 42(9) 892-898 PubMed: 19318026

Miltenberger-Miltenyi G, Janecke AR, Wanschitz JV, Timmerman V, Windpassinger C, Auer-Grumbach M, Löscher WN
Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
Arch Neurol 2007 64(7) 966-970 PubMed: 17620486

Momeni P, Cairns NJ, Perry RH, Bigio EH, Gearing M, Singleton AB, Hardy J
Mutation analysis of patients with neuronal intermediate filament inclusion disease (NIFID).
Neurobiol Aging 2006 27(5) 778.e1-778.e6 PubMed: 16005115

Moog U, de Die-Smulders CE, Scheffer H, van der Vlies P, Henquet CJ, Jonkman MF
Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients.
Am J Med Genet 1999 86(4) 376-379 PubMed: 10494094

Moraru R, Cserhalmi-Friedman PB, Grossman ME, Schneiderman P, Christiano AM
Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene.
Clin Exp Dermatol 1999 24(5) 412-415 PubMed: 10564334

Moreau F, Boullu-Sanchis S, Vigouroux C, Lucescu C, Lascols O, Sapin R, Ruimy D, Guerci B, Pinget M, Jeandidier N
Efficacy of pioglitazone in familial partial lipodystrophy of the Dunnigan type: a case report.
Diabetes Metab 2007 33(5) 385-389 PubMed: 17936664

Morel CF, Thomas MA, Cao H, O'Neil CH, Pickering JG, Foulkes WD, Hegele RA
A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy type 2.
J Clin Endocrinol Metab 2006 91(7) 2689-2695 PubMed: 16636128

Morgan VA, Byron K, Paiman L, Varigos GA
A case of spontaneous mutation in the keratin 9 gene associated with epidermolytic palmoplantar keratoderma.
Australas J Dermatol 1999 40(4) 215-216 PubMed: 10570560

Morley SM, D'Alessandro M, Sexton C, Rugg EL, Navsaria H, Shemanko CS, Huber M, Hohl D, Heagerty AI, Leigh IM, Lane EB
Generation and characterization of epidermolysis bullosa simplex cell lines: scratch assays show faster migration with disruptive keratin mutations.
Br J Dermatol 2003 149(1) 46-58 PubMed: 12890194

Mory PB, Crispim F, Kasamatsu T, Gabbay MA, Dib SA, Moisés RS
Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation.
Arq Bras Endocrinol Metabol 2008 52(8) 1252-1256 PubMed: 19169477

Moss C, Jones DO, Blight A, Bowden PE
Birthmark due to cutaneous mosaicism for keratin 10 mutation.
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Moulson CL, Fong LG, Gardner JM, Farber EA, Go G, Passariello A, Grange DK, Young SG, Miner JH
Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes.
Hum Mutat 2007 () - PubMed: 17469202

Muchir A, Bonne G, van der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, de Visser M, Schwartz K
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).
Hum Mol Genet 2000 9(9) 1453-1459 PubMed: 10814726

Muchir A, Medioni J, Laluc M, Massart C, Arimura T, van der Kooi AJ, Desguerre I, Mayer M, Ferrer X, Briault S, Hirano M, Worman HJ, Mallet A, Wehnert M, Schwartz K, Bonne G
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.
Muscle Nerve 2004 30(4) 444-450 PubMed: 15372542

Müller FB, Anton-Lamprecht I, Küster W, Korge BP
A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case.
J Invest Dermatol 1999 112(6) 988-990 PubMed: 10383750

Müller FB, Huber M, Kinaciyan T, Hausser I, Schaffrath C, Krieg T, Hohl D, Korge BP, Arin MJ
A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis.
Hum Mol Genet 2006 15(7) 1133-1141 PubMed: 16505000

Müller FB, Küster W, Bruckner-Tuderman L, Korge BP
Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex.
J Invest Dermatol 1998 111(5) 900-902 PubMed: 9804357

Müller FB, Küster W, Wodecki K, Almeida H, Bruckner-Tuderman L, Krieg T, Korge BP, Arin MJ
Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.
Hum Mutat 2006 27(7) 719-720 PubMed: 16786515

Müller M, Bhattacharya SS, Moore T, Prescott Q, Wedig T, Herrmann H, Magin TM
Dominant cataract formation in association with a vimentin assembly disrupting mutation.
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Muñoz-Mármol AM, Strasser G, Isamat M, Coulombe PA, Yang Y, Roca X, Vela E, Mate JL, Coll J, Fernández-Figueras MT, Navas-Palacios JJ, Ariza A, Fuchs E
A dysfunctional desmin mutation in a patient with severe generalized myopathy.
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Muntoni F, Bonne G, Goldfarb LG, Mercuri E, Piercy RJ, Burke M, Yaou RB, Richard P, Récan D, Shatunov A, Sewry CA, Brown SC
Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.
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Murakami N, Tsuchiya T, Kanazawa N, Tsujino S, Nagai T
Novel deletion mutation in GFAP gene in an infantile form of Alexander disease.
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Muramatsu S, Suga Y, Mizuno Y, Hasegawa T, Tsuchihashi H, Matsuba S, Kohroh K, Yaguchi H, Ogawa H
A novel threonine to proline mutation in the helix termination motif of keratin 1 in epidermolytic hyperkeratosis with severe palmoplantar hyperkeratosis and contractures of the digits.
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Muschke P, Kölsch U, Jakubiczka S, Wieland I, Brune T, Wieacker P
The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy.
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Mutesa L, Pierquin G, Cwiny-Ay N, Buzizi P, Bours V
[Hutchinson-Gilford progeria syndrome: clinical and molecular analysis in an African patient]
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Møller DV, Pham TT, Gustafsson F, Hedley P, Ersbøll MK, Bundgaard H, Andersen CB, Torp-Pedersen C, Køber L, Christiansen M
The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy.
Eur J Heart Fail 2009 11(11) 1031-1035 PubMed: 19875404

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N

Naeem M, Wajid M, Lee K, Leal SM, Ahmad W
A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type.
J Med Genet 2006 43(3) 274-279 PubMed: 16525032

Nagao-Watanabe M, Fukao T, Matsui E, Kaneko H, Inoue R, Kawamoto N, Kasahara K, Nagai M, Ichiki Y, Kitajima Y, Kondo N
Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case.
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Nakamura S, Makita Y, Takagi A, Hashimoto Y, Takahashi H, Ishida-Yamamoto A, Iizuka H
Hutchinson-Gilford progeria syndrome with severe skin calcinosis.
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Namekawa M, Takiyama Y, Aoki Y, Takayashiki N, Sakoe K, Shimazaki H, Taguchi T, Tanaka Y, Nishizawa M, Saito K, Matsubara Y, Nakano I
Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease.
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Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Geneviève D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Lévy N
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
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Navsaria HA, Swensson O, Ratnavel RC, Shamsher M, McLean WH, Lane EB, Griffiths D, Eady RA, Leigh IM
Ultrastructural changes resulting from keratin-9 gene mutations in two families with epidermolytic palmoplantar keratoderma.
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Nguyen D, Leistritz DF, Turner L, MacGregor D, Ohson K, Dancey P, Martin GM, Oshima J
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Nichini O, Manzi V, Munier FL, Schorderet DF
Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene.
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Nielsen K, Orntoft T, Hjortdal J, Rasmussen T, Ehlers N
A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family.
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Niinikoski H, Haataja L, Brander A, Valanne L, Blaser S
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Ning CC, Chao SC, Uitto J, Shieh CC, Lee JY
Mutation analysis in the family of a Taiwanese boy with with epidermolysis bullosa simplex dowling-meara.
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Nishida K, Honma Y, Dota A, Kawasaki S, Adachi W, Nakamura T, Quantock AJ, Hosotani H, Yamamoto S, Okada M, Shimomura Y, Kinoshita S
Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy.
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Nishizawa A, Nakajima R, Nakano H, Sawamura D, Takayama K, Satoh T, Yokozeki H
A de novo missense mutation in the keratin 13 gene in oral white sponge naevus.
Br J Dermatol 2008 159(4) 974-975 PubMed: 18616775

Nishizawa A, Toyomaki Y, Nakano A, Takeuchi S, Matsuzaki Y, Takeda H, Kaneko T, Mitsuhashi Y, Nakano H
A novel H1 domain mutation in the keratin 2 gene in a Japanese family with ichthyosis bullosa of Siemens.
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Nobuhara Y, Nakahara K, Higuchi I, Yoshida T, Fushiki S, Osame M, Arimura K, Nakagawa M
Juvenile form of Alexander disease with GFAP mutation and mitochondrial abnormality.
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Nomura K, Meng X, Umeki K, Tamai K, Sawamura D, Hashimoto I, Kikuchi T
A keratin K10 gene mutation in a Japanese patient with epidermolytic hyperkeratosis.
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Nomura K, Shimizu H, Meng X, Umeki K, Tamai K, Sawamura D, Nagao K, Kawakami T, Nishikawa T, Hashimoto I
A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex.
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Nomura K, Umeki K, Hatayama I, Kuronuma T
Phenotypic heterogeneity in bullous congenital ichthyosiform erythroderma: possible somatic mosaicism for keratin gene mutation in the mildly affected mother of the proband.
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Novelli G, Muchir A, Sangiuolo F, Helbling-Leclerc A, D'Apice MR, Massart C, Capon F, Sbraccia P, Federici M, Lauro R, Tudisco C, Pallotta R, Scarano G, Dallapiccola B, Merlini L, Bonne G
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.
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O

Oetting WS, Fryer JP, Wyman Z, Shtorch A, Cordoba M, Lazarov A, Reish O
Molecular analysis of an extended Palestinian family from Israel with monilethrix.
Genet Med 1999 1(3) 109-111 PubMed: 11336449

Oh Adib C, Jones B, Liao H, Smith FJ, Solomon R, Egan CA, Leachman S
Recurrent mutation in keratin 17 in a large family with pachyonychia congenita type 2.
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Novel keratin 5 mutations in epidermolysis bullosa simplex: Cases with unusual genotype-phenotype correlation.
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An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein.
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Olivé M, Goldfarb L, Moreno D, Laforet E, Dagvadorj A, Sambuughin N, Martínez-Matos JA, Martínez F, Alió J, Farrero E, Vicart P, Ferrer I
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Owen KR, Donohoe M, Ellard S, Hattersley AT
Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA gene.
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Owen KR, Stride A, Ellard S, Hattersley AT
Etiological investigation of diabetes in young adults presenting with apparent type 2 diabetes.
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Owens DW, Wilson NJ, Hill AJ, Rugg EL, Porter RM, Hutcheson AM, Quinlan RA, van Heel D, Parkes M, Jewell DP, Campbell SS, Ghosh S, Satsangi J, Lane EB
Human keratin 8 mutations that disturb filament assembly observed in inflammatory bowel disease patients.
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Ołdak M, Kowalewski C, Maksym RB, Woźniak K, Pollak A, Podgórska M, Wnorowski A, Kosińska J, Płoski R
Novel keratin 14 hotspot mutation in Dowling-Meara type of epidermolysis bullosa simplex: Strategy to avoid KRT14 pseudogene amplification by a simple approach.
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P

Padiath QS, Saigoh K, Schiffmann R, Asahara H, Yamada T, Koeppen A, Hogan K, Ptácek LJ, Fu YH
Lamin B1 duplications cause autosomal dominant leukodystrophy.
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Paller AS, Syder AJ, Chan YM, Yu QC, Hutton E, Tadini G, Fuchs E
Genetic and clinical mosaicism in a type of epidermal nevus.
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Paradisi M, McClintock D, Boguslavsky RL, Pedicelli C, Worman HJ, Djabali K
Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress.
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Pareyson D, Fancellu R, Mariotti C, Romano S, Salmaggi A, Carella F, Girotti F, Gattellaro G, Carriero MR, Farina L, Ceccherini I, Savoiardo M
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Park KY, Dalakas MC, Goebel HH, Ferrans VJ, Semino-Mora C, Litvak S, Takeda K, Goldfarb LG
Desmin splice variants causing cardiac and skeletal myopathy.
J Med Genet 2000 37(11) 851-857 PubMed: 11073539

Park KY, Dalakas MC, Semino-Mora C, Lee HS, Litvak S, Takeda K, Ferrans VJ, Goldfarb LG
Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation.
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Parks SB, Kushner JD, Nauman D, Burgess D, Ludwigsen S, Peterson A, Li D, Jakobs P, Litt M, Porter CB, Rahko PS, Hershberger RE
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Pascucci M, Posteraro P, Pedicelli C, Provini A, Auricchio L, Paradisi M, Castiglia D
Epidermolysis bullosa simplex with mottled pigmentation due to de novo P25L mutation in keratin 5 in an Italian patient.
Eur J Dermatol 2006 16(6) 620-622 PubMed: 17229601

Pasotti M, Klersy C, Pilotto A, Marziliano N, Rapezzi C, Serio A, Mannarino S, Gambarin F, Favalli V, Grasso M, Agozzino M, Campana C, Gavazzi A, Febo O, Marini M, Landolina M, Mortara A, Piccolo G, Viganò M, Tavazzi L, Arbustini E
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Pearce EG, Smith SK, Lanigan SW, Bowden PE
Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix.
J Invest Dermatol 1999 113(6) 1123-1127 PubMed: 10594761

Pegoraro E, Gavassini BF, Benedetti S, Menditto I, Zara G, Padoan R, Mostacciuolo ML, Ferrari M, Angelini C
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Perrot A, Hussein S, Ruppert V, Schmidt HH, Wehnert MS, Duong NT, Posch MG, Panek A, Dietz R, Kindermann I, Böhm M, Michalewska-Wludarczyk A, Richter A, Maisch B, Pankuweit S, Ozcelik C
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Perrot A, Sigusch HH, Nägele H, Genschel J, Lehmkuhl H, Hetzer R, Geier C, Leon Perez V, Reinhard D, Dietz R, Josef Osterziel K, Schmidt HH
Genetic and phenotypic analysis of dilated cardiomyopathy with conduction system disease: demand for strategies in the management of presymptomatic lamin A/C mutant carriers.
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Pfendner EG, Nakano A, Pulkkinen L, Christiano AM, Uitto J
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.
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Pfendner EG, Sadowski SG, Uitto J
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Pica EC, Kathirvel P, Pramono ZA, Lai PS, Yee WC
Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family.
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Piñol-Ripoll G, Shatunov A, Cabello A, Larrodé P, de la Puerta I, Pelegrín J, Ramos FJ, Olivé M, Goldfarb LG
Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin.
Neuromuscul Disord 2009 19(6) 418-422 PubMed: 19433360

Plasilova M, Chattopadhyay C, Pal P, Schaub NA, Buechner SA, Mueller H, Miny P, Ghosh A, Heinimann K
Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome.
J Med Genet 2004 41(8) 609-614 PubMed: 15286156

Premaratne C, Klingberg S, Glass I, Wright K, Murrell D
Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin 14.
Australas J Dermatol 2002 43(1) 28-34 PubMed: 11869205

Probst EN, Hagel C, Weisz V, Nagel S, Wittkugel O, Zeumer H, Kohlschütter A
Atypical focal MRI lesions in a case of juvenile Alexander's disease.
Ann Neurol 2003 53(1) 118-120 PubMed: 12509855

Pruszczyk P, Kostera-Pruszczyk A, Shatunov A, Goudeau B, Dramiñska A, Takeda K, Sambuughin N, Vicart P, Strelkov SV, Goldfarb LG, Kamiñska A
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Q

Quijano-Roy S, Mbieleu B, Bönnemann CG, Jeannet PY, Colomer J, Clarke NF, Cuisset JM, Roper H, De Meirleir L, D'Amico A, Ben Yaou R, Nascimento A, Barois A, Demay L, Bertini E, Ferreiro A, Sewry CA, Romero NB, Ryan M, Muntoni F, Guicheney P, Richard P, Bonne G, Estournet B
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
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R

Raffaele Di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, Romorini A, Voit T, Orstavik KH, Merlini L, Trevisan C, Biancalana V, Housmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.
Am J Hum Genet 2000 66(4) 1407-1412 PubMed: 10739764

Rahner N, Holzmann C, Krüger R, Schöls L, Berger K, Riess O
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Ramachandran RD, Perumalsamy V, Hejtmancik JF
Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.
Hum Genet 2007 121(3-4) 475-482 PubMed: 17225135

Rankin J, Auer-Grumbach M, Bagg W, Colclough K, Nguyen TD, Fenton-May J, Hattersley A, Hudson J, Jardine P, Josifova D, Longman C, McWilliam R, Owen K, Walker M, Wehnert M, Ellard S
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.
Am J Med Genet A 2008 146A(12) 1530-1542 PubMed: 18478590

Reichart B, Klafke R, Dreger C, Krüger E, Motsch I, Ewald A, Schäfer J, Reichmann H, Müller CR, Dabauvalle MC
Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation.
BMC Cell Biol 2004 5() 12-12 PubMed: 15053843

Reis A, Hennies HC, Langbein L, Digweed M, Mischke D, Drechsler M, Schröck E, Royer-Pokora B, Franke WW, Sperling K
Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).
Nat Genet 1994 6(2) 174-179 PubMed: 7512862

Renard D, Fourcade G, Milhaud D, Bessis D, Esteves-Vieira V, Boyer A, Roll P, Bourgeois P, Levy N, De Sandre-Giovannoli A
Novel LMNA Mutation in Atypical Werner Syndrome Presenting With Ischemic Disease.
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Renou L, Stora S, Yaou RB, Volk M, Sinkovec M, Demay L, Richard P, Peterlin B, Bonne G
Heart-hand syndrome of Slovenian type: a new kind of laminopathy.
J Med Genet 2008 45(10) 666-671 PubMed: 18611980

Richard G, De Laurenzi V, Didona B, Bale SJ, Compton JG
Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus.
Nat Genet 1995 11(4) 453-455 PubMed: 7493031

Richardson ES, Lee JB, Hyde PH, Richard G
A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.
J Invest Dermatol 2006 126(1) 79-84 PubMed: 16417221

Rodriguez D, Gauthier F, Bertini E, Bugiani M, Brenner M, N'guyen S, Goizet C, Gelot A, Surtees R, Pedespan JM, Hernandorena X, Troncoso M, Uziel G, Messing A, Ponsot G, Pham-Dinh D, Dautigny A, Boespflug-Tanguy O
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Am J Hum Genet 2001 69(5) 1134-1140 PubMed: 11567214

Romano S, Salvetti M, Ceccherini I, De Simone T, Savoiardo M
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Rothnagel JA, Dominey AM, Dempsey LD, Longley MA, Greenhalgh DA, Gagne TA, Huber M, Frenk E, Hohl D, Roop DR
Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.
Science 1992 257(5073) 1128-1130 PubMed: 1380725

Rothnagel JA, Fisher MP, Axtell SM, Pittelkow MR, Anton-Lamprecht I, Huber M, Hohl D, Roop DR
A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis.
Hum Mol Genet 1993 2(12) 2147-2150 PubMed: 7509230

Rothnagel JA, Lin MT, Longley MA, Holder RA, Hazen PG, Levy ML, Roop DR
Prenatal diagnosis for keratin mutations to exclude transmission of epidermolytic hyperkeratosis.
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Rothnagel JA, Traupe H, Wojcik S, Huber M, Hohl D, Pittelkow MR, Saeki H, Ishibashi Y, Roop DR
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens.
Nat Genet 1994 7(4) 485-490 PubMed: 7524919

Rothnagel JA, Wojcik S, Liefer KM, Dominey AM, Huber M, Hohl D, Roop DR
Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma.
J Invest Dermatol 1995 104(3) 430-433 PubMed: 7532199

Rudenskaya GE, Polyakov AV, Tverskaya SM, Zaklyazminskaya EV, Chukhrova AL, Groznova OE, Ginter EK
Laminopathies in Russian families.
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Rudnik-Schöneborn S, Botzenhart E, Eggermann T, Senderek J, Schoser BG, Schröder R, Wehnert M, Wirth B, Zerres K
Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy.
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Rugg E, Magee G, Wilson N, Brandrup F, Hamburger J, Lane E
Identification of two novel mutations in keratin 13 as the cause of white sponge naevus.
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Rugg EL, Baty D, Shemanko CS, Magee G, Polak S, Bergman R, Kadar T, Boxer M, Falik-Zaccai T, Borochowitz Z, Lane EB
DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex.
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Rugg EL, Common JE, Wilgoss A, Stevens HP, Buchan J, Leigh IM, Kelsell DP
Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high-performance liquid chromatography.
Br J Dermatol 2002 146(6) 952-957 PubMed: 12072061

Rugg EL, Horn HM, Smith FJ, Wilson NJ, Hill AJ, Magee GJ, Shemanko CS, Baty DU, Tidman MJ, Lane EB
Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.
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Rugg EL, McLean WH, Allison WE, Lunny DP, Macleod RI, Felix DH, Lane EB, Munro CS
A mutation in the mucosal keratin K4 is associated with oral white sponge nevus.
Nat Genet 1995 11(4) 450-452 PubMed: 7493030

Rugg EL, McLean WH, Lane EB, Pitera R, McMillan JR, Dopping-Hepenstal PJ, Navsaria HA, Leigh IM, Eady RA
A functional "knockout" of human keratin 14.
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Rugg EL, Morley SM, Smith FJ, Boxer M, Tidman MJ, Navsaria H, Leigh IM, Lane EB
Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function.
Nat Genet 1993 5(3) 294-300 PubMed: 7506097

Rugg EL, Rachet-Préhu MO, Rochat A, Barrandon Y, Goossens M, Lane EB, Hovnanian A
Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex.
Eur J Hum Genet 1999 7(3) 293-300 PubMed: 10234505

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S

Saeki H, Hattori N, Mitsui H, Adachi M, Imakado S, Ishibashi Y, Tamaki K
A keratin 10 gene mutation (Arg156Cys) in a Japanese patient with bullous congenital ichthyosiform erythroderma.
J Dermatol 2002 29(3) 168-171 PubMed: 11990254

Saeki H, Nakamura K, Tsunemi Y, Komine M, Tamaki K
Novel mutation (Asp158Val) in H1 domain of keratin 5 gene in a Japanese patient with Köbner-type epidermolysis bullosa simplex.
J Dermatol 2006 33(10) 692-695 PubMed: 17040498

Saga A, Karibe A, Otomo J, Iwabuchi K, Takahashi T, Kanno H, Kikuchi J, Keitoku M, Shinozaki T, Shimokawa H
Lamin A/C gene mutations in familial cardiomyopathy with advanced atrioventricular block and arrhythmia.
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Sakakibara T, Takahashi Y, Fukuda K, Inoue T, Kurosawa T, Nishikubo T, Shima M, Taoka T, Aida N, Tsujino S, Kanazawa N, Yoshioka A
A case of infantile Alexander disease diagnosed by magnetic resonance imaging and genetic analysis.
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Salmaggi A, Botturi A, Lamperti E, Grisoli M, Fischetto R, Ceccherini I, Caroli F, Boiardi A
A novel mutation in the GFAP gene in a familial adult onset Alexander disease.
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Adult Alexander's disease without leukoencephalopathy.
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Sasaki Y, Shimizu H, Akiyama M, Hiraoka Y, Takizawa Y, Yamada S, Morishima Y, Yamanishi K, Aiso S, Nishikawa T
A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex.
Br J Dermatol 1999 141(4) 747-748 PubMed: 10583131

Savage DB, Soos MA, Powlson A, O'Rahilly S, McFarlane I, Halsall DJ, Barroso I, Thomas EL, Bell JD, Scobie I, Belchetz PE, Kelly WF, Schafer AJ
Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene.
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Sawaishi Y, Yano T, Takaku I, Takada G
Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene.
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Schmidt HH, Genschel J, Baier P, Schmidt M, Ockenga J, Tietge UJ, Pröpsting M, Büttner C, Manns MP, Lochs H, Brabant G
Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene.
J Clin Endocrinol Metab 2001 86(5) 2289-2295 PubMed: 11344241

Schneider A, Lamb J, Barmada MM, Cuneo A, Money ME, Whitcomb DC
Keratin 8 mutations are not associated with familial, sporadic and alcoholic pancreatitis in a population from the United States.
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Schöniger-Hekele M, Petermann D, Müller C
Mutation of keratin 8 in patients with liver disease.
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Schröder R, Goudeau B, Simon MC, Fischer D, Eggermann T, Clemen CS, Li Z, Reimann J, Xue Z, Rudnik-Schöneborn S, Zerres K, van der Ven PF, Fürst DO, Kunz WS, Vicart P
On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.
Hum Mol Genet 2003 12(6) 657-669 PubMed: 12620971

Schuilenga-Hut PH, Scheffer H, Pas HH, Nijenhuis M, Buys CH, Jonkman MF
Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex.
J Invest Dermatol 2002 118(4) 626-630 PubMed: 11918708

Schuilenga-Hut PH, Vlies P, Jonkman MF, Waanders E, Buys CH, Scheffer H
Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.
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Sébillon P, Bouchier C, Bidot LD, Bonne G, Ahamed K, Charron P, Drouin-Garraud V, Millaire A, Desrumeaux G, Benaïche A, Charniot JC, Schwartz K, Villard E, Komajda M
Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.
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Sechi GP, Conti M, Sau GF, Cocco GA
Valproate-induced parkinsonism, glial cells and Alexander's disease.
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Selcen D, Ohno K, Engel AG
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.
Brain 2004 127(Pt 2) 439-451 PubMed: 14711882

Seto T, Fujiki K, Kishishita H, Fujimaki T, Murakami A, Kanai A
A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy.
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Sevenants L, Wouters C, De Sandre-Giovannoli A, Devlieger H, Devriendt K, van den Oord JJ, Marien K, Lévy N, Morren MA
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Sewry CA, Brown SC, Mercuri E, Bonne G, Feng L, Camici G, Morris GE, Muntoni F
Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations.
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Shackleton S, Lloyd DJ, Jackson SN, Evans R, Niermeijer MF, Singh BM, Schmidt H, Brabant G, Kumar S, Durrington PN, Gregory S, O'Rahilly S, Trembath RC
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
Nat Genet 2000 24(2) 153-156 PubMed: 10655060

Shalev SA, De Sandre-Giovannoli A, Shani AA, Levy N
An association of Hutchinson-Gilford progeria and malignancy.
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Shamsher MK, Navsaria HA, Stevens HP, Ratnavel RC, Purkis PE, Kelsell DP, McLean WH, Cook LJ, Griffiths WA, Gschmeissner S
Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families.
Hum Mol Genet 1995 4(10) 1875-1881 PubMed: 8595410

Sharma VM, Stein SL
A Novel Mutation in K6b in Pachyonychia Congenita Type 2.
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Shemanko CS, Horn HM, Keohane SG, Hepburn N, Kerr AI, Atherton DJ, Tidman MJ, Lane EB
Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential.
Br J Dermatol 2000 142(2) 315-320 PubMed: 10730767

Shemanko CS, Mellerio JE, Tidman MJ, Lane EB, Eady RA
Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14).
J Invest Dermatol 1998 111(5) 893-895 PubMed: 9804355

Shen JJ, Brown CA, Lupski JR, Potocki L
Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C.
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Sheth N, Greenblatt D, McGrath JA
New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy.
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Shibuya Y, Zhang J, Yokoo S, Umeda M, Komori T
Constitutional mutation of keratin 13 gene in familial white sponge nevus.
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Shiihara T, Kato M, Honma T, Ohtaki S, Sawaishi Y, Hayasaka K
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Shiihara T, Sawaishi Y, Adachi M, Kato M, Hayasaka K
Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP.
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Shimazu K, Tsunemi Y, Hattori N, Saeki H, Komine M, Adachi M, Tamaki K
A novel keratin 9 gene mutation (Met156Arg) in a Japanese patient with epidermolytic palmoplantar keratoderma.
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Shimomura Y, Sato N, Tomiyama K, Takahashi A, Ito M
A sporadic case of epidermolytic hyperkeratosis caused by a novel point mutation in the keratin 1 gene.
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Shimomura Y, Wajid M, Weiser J, Kraemer L, Christiano AM
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Shurman D, Losi-Sasaki J, Grimwood R, Kivirikko S, Tichy E, Uitto J, Richard G
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Simha V, Agarwal AK, Oral EA, Fryns JP, Garg A
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Sjöberg G, Saavedra-Matiz CA, Rosen DR, Wijsman EM, Borg K, Horowitz SH, Sejersen T
A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation.
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Smith FJ, Coleman CM, Bayoumy NM, Tenconi R, Nelson J, David A, McLean WH
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Smith FJ, Corden LD, Rugg EL, Ratnavel R, Leigh IM, Moss C, Tidman MJ, Hohl D, Huber M, Kunkeler L, Munro CS, Lane EB, McLean WH
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Smith FJ, Del Monaco M, Steijlen PM, Munro CS, Morvay M, Coleman CM, Rietveld FJ, Uitto J, McLean WH
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Smith FJ, Fisher MP, Healy E, Rees JL, Bonifas JM, Epstein EH, Tan EM, Uitto J, McLean WH
Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma.
Exp Dermatol 2000 9(3) 170-177 PubMed: 10839714

Smith FJ, Jonkman MF, van Goor H, Coleman CM, Covello SP, Uitto J, McLean WH
A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.
Hum Mol Genet 1998 7(7) 1143-1148 PubMed: 9618173

Smith FJ, Liao H, Cassidy AJ, Stewart A, Hamill KJ, Wood P, Joval I, van Steensel MA, Björck E, Callif-Daley F, Pals G, Collins P, Leachman SA, Munro CS, McLean WH
The genetic basis of pachyonychia congenita.
J Investig Dermatol Symp Proc 2005 10(1) 21-30 PubMed: 16250206

Smith FJ, Maingi C, Covello SP, Higgins C, Schmidt M, Lane EB, Uitto J, Leigh IM, McLean WH
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Smith FJ, McKenna KE, Irvine AD, Bingham EA, Coleman CM, Uitto J, McLean WH
A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1.
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Smith FJ, McKusick VA, Nielsen K, Pfendner E, Uitto J, McLean WH
Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1.
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Smith FJ, Morley SM, McLean WH
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Smith GC, Kinali M, Prasad SK, Bonne G, Muntoni F, Pennell DJ, Nihoyannopoulos P
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Song K, Dubé MP, Lim J, Hwang I, Lee I, Kim JJ
Lamin A/C mutations associated with familial and sporadic cases of dilated cardiomyopathy in Koreans.
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Speckman RA, Garg A, Du F, Bennett L, Veile R, Arioglu E, Taylor SI, Lovett M, Bowcock AM
Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.
Am J Hum Genet 2000 66(4) 1192-1198 PubMed: 10739751

Sprecher E, Ishida-Yamamoto A, Becker OM, Marekov L, Miller CJ, Steinert PM, Neldner K, Richard G
Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix.
J Invest Dermatol 2001 116(4) 511-519 PubMed: 11286616

Sprecher E, Yosipovitch G, Bergman R, Ciubutaro D, Indelman M, Pfendner E, Goh LC, Miller CJ, Uitto J, Richard G
Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5.
J Invest Dermatol 2003 120(4) 623-626 PubMed: 12648226

Spuler S, Geier C, Osterziel KJ, Gutberlet M, Genschel J, Lehmann TN, Zinn-Justin S, Gilquin B, Schmidt H
A new LMNA mutation causing limb girdle muscular dystrophy 1B.
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Alexander disease with hypothermia, microcoria, and psychiatric and endocrine disturbances.
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Variation in the lamin A/C gene: associations with metabolic syndrome.
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Stephens K, Ehrlich P, Weaver M, Le R, Spencer A, Sybert VP
Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients.
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A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis.
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Stephens K, Zlotogorski A, Smith L, Ehrlich P, Wijsman E, Livingston RJ, Sybert VP
Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function.
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Strnad P, Lienau TC, Tao GZ, Ku NO, Magin TM, Omary MB
Denaturing temperature selection may underestimate keratin mutation detection by DHPLC.
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Stumpf E, Masson H, Duquette A, Berthelet F, McNabb J, Lortie A, Lesage J, Montplaisir J, Brais B, Cossette P
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Suga Y, Arin MJ, Scott G, Goldsmith LA, Magro CM, Baden LA, Baden HP, Roop DR
Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens.
Exp Dermatol 2000 9(1) 11-15 PubMed: 10688369

Suga Y, Duncan KO, Heald PW, Roop DR
A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma.
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Sugawara M, Kato K, Komatsu M, Wada C, Kawamura K, Shindo PS, Yoshioka PN, Tanaka K, Watanabe S, Toyoshima I
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Sugiyama-Fukamatsu H, Suzuki N, Nakanishi G, Iwatsuki K
Epidermolysis bullosa nevus arising in a patient with Dowling-Meara type epidermolysis bullosa simplex with a novel K5 mutation.
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Sullivan LS, Baylin EB, Font R, Daiger SP, Pepose JS, Clinch TE, Nakamura H, Zhao XC, Yee RW
A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy.
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Sun X, Yin XZ, Wu LQ, Shi XL, Hu ZM, Liu XP, Pan Q, Dai HP, Xia K, Xia JH
[Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family]
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Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patients.
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Suzuki Y, Kanazawa N, Takenaka J, Okumura A, Negoro T, Tsujino S
A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P.
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Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1.
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Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity.
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Szaflik JP, Ołdak M, Maksym RB, Kamińska A, Pollak A, Udziela M, Płoski R, Szaflik J
Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation.
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Szalai S, Szalai C, Becker K, Török E
Keratin 9 mutations in the coil 1A region in epidermolytic palmoplantar keratoderma.
Pediatr Dermatol 1999 16(6) 430-435 PubMed: 10632938

Sørensen CB, Ladekjaer-Mikkelsen AS, Andresen BS, Brandrup F, Veien NK, Buus SK, Anton-Lamprecht I, Kruse TA, Jensen PK, Eiberg H, Bolund L, Gregersen N
Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
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T

Takahashi K, Takahashi K, Murakami A, Okisaka S, Kimura T, Kanai A
Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy.
Jpn J Ophthalmol 2002 46(6) 673-674 PubMed: 12543196

Takizawa Y, Akiyama M, Nagashima M, Shimizu H
A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens.
J Invest Dermatol 2000 114(1) 193-195 PubMed: 10620137

Tal O, Bergman R, Alcalay J, Indelman M, Sprecher E
Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1.
Clin Exp Dermatol 2005 30(1) 64-67 PubMed: 15663507

Tao GZ, Strnad P, Zhou Q, Kamal A, Zhang L, Madani ND, Kugathasan S, Brant SR, Cho JH, Omary MB, Duerr RH
Analysis of keratin polypeptides 8 and 19 variants in inflammatory bowel disease.
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Taylor MR, Fain PR, Sinagra G, Robinson ML, Robertson AD, Carniel E, Di Lenarda A, Bohlmeyer TJ, Ferguson DA, Brodsky GL, Boucek MM, Lascor J, Moss AC, Li WL, Stetler GL, Muntoni F, Bristow MR, Mestroni L
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.
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Taylor MR, Robinson ML, Mestroni L
Analysis of genetic variations of lamin A/C gene (LMNA) by denaturing high-performance liquid chromatography.
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Taylor MR, Slavov D, Ku L, Di Lenarda A, Sinagra G, Carniel E, Haubold K, Boucek MM, Ferguson D, Graw SL, Zhu X, Cavanaugh J, Sucharov CC, Long CS, Bristow MR, Lavori P, Mestroni L
Prevalence of desmin mutations in dilated cardiomyopathy.
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Tazir M, Azzedine H, Assami S, Sindou P, Nouioua S, Zemmouri R, Hamadouche T, Chaouch M, Feingold J, Vallat JM, Leguern E, Grid D
Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.
Brain 2004 127(Pt 1) 154-163 PubMed: 14607793

Terheyden P, Grimberg G, Hausser I, Rose C, Korge BP, Krieg T, Arin MJ
Recessive Epidermolytic Hyperkeratosis Caused by a Previously Unreported Termination Codon Mutation in the Keratin 10 Gene.
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Terrinoni A, Candi E, Oddi S, Gobello T, Camaione DB, Mazzanti C, Zambruno G, Knight R, Melino G
A glutamine insertion in the 1A alpha helical domain of the keratin 4 gene in a familial case of white sponge nevus.
J Invest Dermatol 2000 114(2) 388-391 PubMed: 10652003

Terrinoni A, Cocuroccia B, Gubinelli E, Zambruno G, Candi E, Melino G, Girolomoni G
Identification of the keratin K9 R162W mutation in patients of Italian origin with epidermolytic palmoplantar keratoderma.
Eur J Dermatol 2004 14(6) 375-378 PubMed: 15564199

Terrinoni A, Puddu P, Didona B, De Laurenzi V, Candi E, Smith FJ, McLean WH, Melino G
A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus.
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Terrinoni A, Rugg EL, Lane EB, Melino G, Felix DH, Munro CS, McLean WH
A novel mutation in the keratin 13 gene causing oral white sponge nevus.
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Terrinoni A, Smith FJ, Didona B, Canzona F, Paradisi M, Huber M, Hohl D, David A, Verloes A, Leigh IM, Munro CS, Melino G, McLean WH
Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.
J Invest Dermatol 2001 117(6) 1391-1396 PubMed: 11886499

Terron-Kwiatkowski A, Paller AS, Compton J, Atherton DJ, McLean WH, Irvine AD
Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1.
J Invest Dermatol 2002 119(4) 966-971 PubMed: 12406346

Terron-Kwiatkowski A, Terrinoni A, Didona B, Melino G, Atherton DJ, Irvine AD, McLean WH
Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene.
Br J Dermatol 2004 150(6) 1096-1103 PubMed: 15214894

Terron-Kwiatkowski A, van Steensel MA, van Geel M, Lane EB, McLean WH, Steijlen PM
Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin.
J Invest Dermatol 2006 126(3) 607-613 PubMed: 16439967

Thyagarajan D, Chataway T, Li R, Gai WP, Brenner M
Dominantly-inherited adult-onset leukodystrophy with palatal tremor caused by a mutation in the glial fibrillary acidic protein gene.
Mov Disord 2004 19(10) 1244-1248 PubMed: 15390001

Titeux M, Mazereeuw-Hautier J, Hadj-Rabia S, Prost C, Tonasso L, Fraitag S, de Prost Y, Hovnanian A, Bodemer C
Three severe cases of EBS Dowling-Meara caused by missense and frameshift mutations in the keratin 14 gene.
J Invest Dermatol 2006 126(4) 773-776 PubMed: 16439965

Todorova A, Halliger-Keller B, Walter MC, Dabauvalle MC, Lochmüller H, Müller CR
A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B.
J Med Genet 2003 40(10) e115-e115 PubMed: 14569138

Tomkins J, Usher P, Slade JY, Ince PG, Curtis A, Bushby K, Shaw PJ
Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS).
Neuroreport 1998 9(17) 3967-3970 PubMed: 9875737

Torchard D, Blanchet-Bardon C, Serova O, Langbein L, Narod S, Janin N, Goguel AF, Bernheim A, Franke WW, Lenoir GM
Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer.
Nat Genet 1994 6(1) 106-110 PubMed: 7511021

Treiber M, Schulz HU, Landt O, Drenth JP, Castellani C, Real FX, Akar N, Ammann RW, Bargetzi M, Bhatia E, Demaine AG, Battagia C, Kingsnorth A, O'reilly D, Truninger K, Koudova M, Spicak J, Cerny M, Menzel HJ, Moral P, Pignatti PF, Romanelli MG, Rickards O, De Stefano GF, Zarnescu NO, Choudhuri G, Sikora SS, Jansen JB, Weiss FU, Pietschmann M, Teich N, Gress TM, Ockenga J, Schmidt H, Kage A, Halangk J, Rosendahl J, Groneberg DA, Nickel R, Witt H
Keratin 8 sequence variants in patients with pancreatitis and pancreatic cancer.
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Tsao CY, Mendell JR
Partial epilepsy in an adolescent male with limb-girdle muscular dystrophy 1B.
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Tsubota A, Akiyama M, Kanitakis J, Sakai K, Nomura T, Claudy A, Shimizu H
Mild Recessive Bullous Congenital Ichthyosiform Erythroderma due to a Previously Unidentified Homozygous Keratin 10 Nonsense Mutation.
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Tsubota A, Akiyama M, Sakai K, Goto M, Nomura Y, Ando S, Abe M, Sawamura D, Shimizu H
Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis.
J Invest Dermatol 2007 127(6) 1371-1374 PubMed: 17255957

Tsubota A, Akiyama M, Sakai K, Yanagi T, McMillan JR, Higashi A, Shimizu H
Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens.
Br J Dermatol 2008 158(1) 191-194 PubMed: 17970808

Tsuda T, Ishikawa C, Nakagawa N, Konishi H, Tarutani M, Matsuki M, Yamanishi K
A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb.
Br J Dermatol 2008 159(3) 730-732 PubMed: 18547302

Tsunemi Y, Hattori N, Saeki H, Adachi M, Komine M, Nakagawa H, Tamaki K
A keratin 9 Gene mutation (Asn160Ser) in a Japanese patient with epidermolytic palmoplantar keratoderma.
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U

Uchida T, Inaoki M, Makino E, Fujimoto W
Identification of a recurrent mutation in keratin 17 in a Japanese family with pachyonychia congenita type 2.
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Uezato H, Yamamoto Y, Kuwae C, Nonaka K, Oshiro M, Kariya K, Nonaka S
A case of bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1.
J Dermatol 2005 32(10) 801-808 PubMed: 16361731

Umeki K, Nomura K, Harada K, Hashimoto I
A keratin K14 gene mutation in a Japanese patient with the Dowling-Meara type of epidermolysis bullosa simplex.
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Uttam J, Hutton E, Coulombe PA, Anton-Lamprecht I, Yu QC, Gedde-Dahl T, Fine JD, Fuchs E
The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.
Proc Natl Acad Sci U S A 1996 93(17) 9079-9084 PubMed: 8799157

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V

van der Knaap MS, Ramesh V, Schiffmann R, Blaser S, Kyllerman M, Gholkar A, Ellison DW, van der Voorn JP, van Dooren SJ, Jakobs C, Barkhof F, Salomons GS
Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord.
Neurology 2006 66(4) 494-498 PubMed: 16505300

van der Knaap MS, Salomons GS, Li R, Franzoni E, Gutiérrez-Solana LG, Smit LM, Robinson R, Ferrie CD, Cree B, Reddy A, Thomas N, Banwell B, Barkhof F, Jakobs C, Johnson A, Messing A, Brenner M
Unusual variants of Alexander's disease.
Ann Neurol 2005 57(3) 327-338 PubMed: 15732098

van der Kooi AJ, Bonne G, Eymard B, Duboc D, Talim B, Van der Valk M, Reiss P, Richard P, Demay L, Merlini L, Schwartz K, Busch HF, de Visser M
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.
Neurology 2002 59(4) 620-623 PubMed: 12196663

van Engelen BG, Muchir A, Hutchison CJ, van der Kooi AJ, Bonne G, Lammens M
The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene.
Neurology 2005 64(2) 374-376 PubMed: 15668447

Van Esch H, Agarwal AK, Debeer P, Fryns JP, Garg A
A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.
J Clin Endocrinol Metab 2006 91(2) 517-521 PubMed: 16278265

van Steensel MA, Steijlen PM, Bladergroen RS, Vermeer M, van Geel M
A missense mutation in the type II hair keratin hHb3 is associated with monilethrix.
J Med Genet 2005 42(3) e19-e19 PubMed: 15744029

van Tintelen JP, Hofstra RM, Katerberg H, Rossenbacker T, Wiesfeld AC, du Marchie Sarvaas GJ, Wilde AA, van Langen IM, Nannenberg EA, van der Kooi AJ, Kraak M, van Gelder IC, van Veldhuisen DJ, Vos Y, van den Berg MP
High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.
Am Heart J 2007 154(6) 1130-1139 PubMed: 18035086

Vantyghem MC, Faivre-Defrance F, Marcelli-Tourvieille S, Fermon C, Evrard A, Bourdelle-Hego MF, Vigouroux C, Defebvre L, Delemer B, Wemeau JL
Familial partial lipodystrophy due to the LMNA R482W mutation with multinodular goitre, extrapyramidal syndrome and primary hyperaldosteronism.
Clin Endocrinol (Oxf) 2007 67(2) 247-249 PubMed: 17524034

Vantyghem MC, Pigny P, Maurage CA, Rouaix-Emery N, Stojkovic T, Cuisset JM, Millaire A, Lascols O, Vermersch P, Wemeau JL, Capeau J, Vigouroux C
Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities.
J Clin Endocrinol Metab 2004 89(11) 5337-5346 PubMed: 15531479

Vechio JD, Bruijn LI, Xu Z, Brown RH, Cleveland DW
Sequence variants in human neurofilament proteins: absence of linkage to familial amyotrophic lateral sclerosis.
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Verga L, Concardi M, Pilotto A, Bellini O, Pasotti M, Repetto A, Tavazzi L, Arbustini E
Loss of lamin A/C expression revealed by immuno-electron microscopy in dilated cardiomyopathy with atrioventricular block caused by LMNA gene defects.
Virchows Arch 2003 443(5) 664-671 PubMed: 12898247

Verstraeten VL, Broers JL, van Steensel MA, Zinn-Justin S, Ramaekers FC, Steijlen PM, Kamps M, Kuijpers HJ, Merckx D, Smeets HJ, Hennekam RC, Marcelis CL, van den Wijngaard A
Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation.
Hum Mol Genet 2006 15(16) 2509-2522 PubMed: 16825282

Vigouroux C, Caux F, Capeau J, Christin-Maitre S, Cohen A
LMNA mutations in atypical Werner's syndrome.
Lancet 2003 362(9395) 1585-1585 PubMed: 14615128

Vigouroux C, Magré J, Vantyghem MC, Bourut C, Lascols O, Shackleton S, Lloyd DJ, Guerci B, Padova G, Valensi P, Grimaldi A, Piquemal R, Touraine P, Trembath RC, Capeau J
Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy.
Diabetes 2000 49(11) 1958-1962 PubMed: 11078466

Virtanen M, Gedde-Dahl T, Mörk NJ, Leigh I, Bowden PE, Vahlquist A
Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression.
Acta Derm Venereol 2001 81(3) 163-170 PubMed: 11558869

Virtanen M, Smith SK, Gedde-Dahl T, Vahlquist A, Bowden PE
Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis.
J Invest Dermatol 2003 121(5) 1013-1020 PubMed: 14708600

Vital A, Ferrer X, Goizet C, Rouanet-Larrivière M, Eimer S, Bonne G, Vital C
Peripheral nerve lesions associated with a dominant missense mutation, E33D, of the lamin A/C gene.
Neuromuscul Disord 2005 15(9-10) 618-621 PubMed: 16084085

Vrabie A, Goldfarb LG, Shatunov A, Nägele A, Fritz P, Kaczmarek I, Goebel HH
The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation.
Acta Neuropathol (Berl) 2005 109(4) 411-417 PubMed: 15759133

Vytopil M, Benedetti S, Ricci E, Galluzzi G, Dello Russo A, Merlini L, Boriani G, Gallina M, Morandi L, Politano L, Moggio M, Chiveri L, Hausmanova-Petrusewicz I, Ricotti R, Vohanka S, Toman J, Toniolo D
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.
J Med Genet 2003 40(12) e132-e132 PubMed: 14684700

Vytopil M, Ricci E, Dello Russo A, Hanisch F, Neudecker S, Zierz S, Ricotti R, Demay L, Richard P, Wehnert M, Bonne G, Merlini L, Toniolo D
Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy.
Neuromuscul Disord 2002 12(10) 958-963 PubMed: 12467752

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W

Wakabayashi K, Lai M, Masuko K, Yamashita S, Yamada M, Iwamoto H, Aida N, Shiroma N, Kanazawa N, Tsujino S
[A case of long-term survival of a patient with infantile Alexander disease diagnosed by DNA analysis]
No To Hattatsu 2005 37(1) 55-59 PubMed: 15675360

Walter MC, Reilich P, Huebner A, Fischer D, Schröder R, Vorgerd M, Kress W, Born C, Schoser BG, Krause KH, Klutzny U, Bulst S, Frey JR, Lochmüller H
Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.
Brain 2007 130(Pt 6) 1485-1496 PubMed: 17439987

Walter MC, Witt TN, Weigel BS, Reilich P, Richard P, Pongratz D, Bonne G, Wehnert MS, Lochmüller H
Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy.
Neuromuscul Disord 2005 15(1) 40-44 PubMed: 15639119

Wang H, Wang J, Zheng W, Wang X, Wang S, Song L, Zou Y, Yao Y, Hui R
Mutation Glu82Lys in lamin A/C gene is associated with cardiomyopathy and conduction defect.
Biochem Biophys Res Commun 2006 344(1) 17-24 PubMed: 16630578

Wang JF, Lu WS, Sun LD, Lv YM, Zhou FS, Fang QY, Tang HY, Cui Y, Yang S, Zhang XJ
Novel missense mutation of keratin in Chinese family with steatocystoma multiplex.
J Eur Acad Dermatol Venereol 2009 23(6) 723-724 PubMed: 19470054

Wang X, Shi Y, Ye Y, Liu F, Jin W, Chen W, Wang M, Hu L, Zhao G, Kong X
[Keratin 17 gene mutation in patients with steatocystoma multiplex]
Zhonghua Yi Xue Za Zhi 2001 81(9) 540-543 PubMed: 11809119

Ward KM, Cook-Bolden FE, Christiano AM, Celebi JT
Identification of a recurrent mutation in keratin 6a in a patient with overlapping clinical features of pachyonychia congenita types 1 and 2.
Clin Exp Dermatol 2003 28(4) 434-436 PubMed: 12823309

Warmuth I, Cserhalmi-Friedman PB, Schneiderman P, Grossman ME, Christiano AM
Epidermolytic palmoplantar keratoderma in a Hispanic kindred resulting from a mutation in the keratin 9 gene.
Clin Exp Dermatol 2000 25(3) 244-246 PubMed: 10844507

Wennerstrand LM, Klingberg MH, Hofer PA, Lundström A, Lind LK
A de novo mutation in the keratin 9 gene in a family with epidermolytic palmoplantar keratoderma from northern Sweden.
Acta Derm Venereol 2003 83(2) 135-137 PubMed: 12735645

Wessely R, Seidl S, Schömig A
Cardiac involvement in Emery-Dreifuss muscular dystrophy.
Clin Genet 2005 67(3) 220-223 PubMed: 15691357

Whittock NV, Ashton GH, Griffiths WA, Eady RA, McGrath JA
New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.
Br J Dermatol 2001 145(2) 330-335 PubMed: 11531804

Whittock NV, Smith FJ, Wan H, Mallipeddi R, Griffiths WA, Dopping-Hepenstal P, Ashton GH, Eady RA, McLean WH, McGrath JA
Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.
J Invest Dermatol 2002 118(5) 838-844 PubMed: 11982762

Wilson NJ, Messenger AG, Leachman SA, O'Toole EA, Lane EB, McLean WH, Smith FJ
Keratin K6c Mutations Cause Focal Palmoplantar Keratoderma.
J Invest Dermatol 2009 () - PubMed: 19609311

Winter H, Clark RD, Tarras-Wahlberg C, Rogers MA, Schweizer J
Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type II hair keratin hHb6.
J Invest Dermatol 1999 113(2) 263-266 PubMed: 10469314

Winter H, Hofmann I, Langbein L, Rogers MA, Schweizer J
A splice site mutation in the gene of the human type I hair keratin hHa1 results in the expression of a tailless keratin isoform.
J Biol Chem 1997 272(51) 32345-32352 PubMed: 9405442

Winter H, Labrèze C, Chapalain V, Surlève-Bazeille JE, Mercier M, Rogers MA, Taieb A, Schweizer J
A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1.
J Invest Dermatol 1998 111(1) 169-172 PubMed: 9665406

Winter H, Rogers MA, Gebhardt M, Wollina U, Boxall L, Chitayat D, Babul-Hirji R, Stevens HP, Zlotogorski A, Schweizer J
A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix.
Hum Genet 1997 101(2) 165-169 PubMed: 9402962

Winter H, Rogers MA, Langbein L, Stevens HP, Leigh IM, Labrèze C, Roul S, Taieb A, Krieg T, Schweizer J
Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix.
Nat Genet 1997 16(4) 372-374 PubMed: 9241275

Winter H, Schissel D, Parry DA, Smith TA, Liovic M, Birgitte Lane E, Edler L, Langbein L, Jave-Suarez LF, Rogers MA, Wilde J, Peters G, Schweizer J
An unusual Ala12Thr polymorphism in the 1A alpha-helical segment of the companion layer-specific keratin K6hf: evidence for a risk factor in the etiology of the common hair disorder pseudofolliculitis barbae.
J Invest Dermatol 2004 122(3) 652-657 PubMed: 15086549

Winter H, Vabres P, Larrègue M, Rogers MA, Schweizer J
A novel missense mutation, A118E, in the helix initiation motif of the type II hair cortex keratin hHb6, causing monilethrix.
Hum Hered 2000 50(5) 322-324 PubMed: 10878478

Wood P, Baty DU, Lane EB, McLean WH
Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients.
J Invest Dermatol 2003 120(3) 495-497 PubMed: 12603865

Wu J, Xiao S
A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex in a Chinese family.
J Eur Acad Dermatol Venereol 2008 () - PubMed: 18717745

Wu JW, Xiao SX, Liu Y, Yu B, Bai ZL, Zhou SN, Li XL
Identification of two recurrent mutations in keratin genes in three cases with pachyonychia congenita.
J Eur Acad Dermatol Venereol 2008 () - PubMed: 18429985

Wuyts W, Biervliet M, Reyniers E, D'Apice MR, Novelli G, Storm K
Somatic and gonadal mosaicism in Hutchinson-Gilford progeria.
Am J Med Genet A 2005 135(1) 66-68 PubMed: 15793835

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X

Xiao SX, Feng YG, Ren XR, Tan SS, Li L, Wang JM, Shi YZ
A novel mutation in the second half of the keratin 17 1A domain in a large pedigree with delayed-onset pachyonychia congenita type 2.
J Invest Dermatol 2004 122(4) 892-895 PubMed: 15102078

Xu Z, Dong H, Sun X, Zhu X, Yang Y
A new keratin 5 mutation (K199T) in a family with Weber-Cockayne epidermolysis bullosa simplex.
Clin Exp Dermatol 2004 29(1) 74-76 PubMed: 14723728

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Y

Yamamoto M, Yoshihara T, Hattori N, Sobue G
Glu528del in NEFL is a polymorphic variant rather than a disease-causing mutation for Charcot-Marie-Tooth disease in Japan.
Neurogenetics 2004 5(1) 75-77 PubMed: 14586770

Yamanishi K, Matsuki M, Konishi K, Yasuno H
A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex.
Hum Mol Genet 1994 3(7) 1171-1172 PubMed: 7526926

Yang JM, Chipev CC, DiGiovanna JJ, Bale SJ, Marekov LN, Steinert PM, Compton JG
Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis.
J Invest Dermatol 1994 102(1) 17-23 PubMed: 7507151

Yang JM, Lee ES, Kang HJ, Choi GS, Yoneda K, Jung SY, Park KB, Steinert PM, Lee ES
A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of Siemens.
Acta Derm Venereol 1998 78(6) 417-419 PubMed: 9833038

Yang JM, Lee S, Bang HD, Kim WS, Lee ES, Steinert PM
A novel threonine --> proline mutation at the end of 2B rod domain in the keratin 2e chain in ichthyosis bullosa of Siemens.
J Invest Dermatol 1997 109(1) 116-118 PubMed: 9204966

Yang JM, Lee S, Kang HJ, Lee JH, Yeo UC, Son IY, Park KB, Steinert PM, Lee ES
Mutations in the 1A rod domain segment of the keratin 9 gene in epidermolytic palmoplantar keratoderma.
Acta Derm Venereol 1998 78(6) 412-416 PubMed: 9833037

Yang JM, Nam K, Kim HC, Lee JH, Park JK, Wu K, Lee ES, Steinert PM
A novel glutamic acid to aspartic acid mutation near the end of the 2B rod domain in the keratin 1 chain in epidermolytic hyperkeratosis.
J Invest Dermatol 1999 112(3) 376-379 PubMed: 10084317

Yang JM, Nam K, Kim SW, Jung SY, Min HG, Yeo UC, Park KB, Lee JH, Suhr KB, Park JK, Lee ES
Arginine in the beginning of the 1A rod domain of the keratin 10 gene is the hot spot for the mutation in epidermolytic hyperkeratosis.
J Dermatol Sci 1999 19(2) 126-133 PubMed: 10098704

Yang JM, Nam K, Park KB, Kim WS, Moon KC, Koh JK, Steinert PM, Lee ES
A novel H1 mutation in the keratin 1 chain in epidermolytic hyperkeratosis.
J Invest Dermatol 1996 107(3) 439-441 PubMed: 8751983

Yang JM, Yoneda K, Morita E, Imamura S, Nam K, Lee ES, Steinert PM
An alanine to proline mutation in the 1A rod domain of the keratin 10 chain in epidermolytic hyperkeratosis.
J Invest Dermatol 1997 109(5) 692-694 PubMed: 9347802

Yang MH, Lee JY, Lin JH, Chao SC
De novo mutation of keratin 9 gene in two Taiwanese patients with epidermolytic palmoplantar keratoderma.
J Formos Med Assoc 2003 102(7) 492-496 PubMed: 14517588

Yasukawa K, Sawamura D, Goto M, Nakamura H, Jung SY, Kim SC, Shimizu H
Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.
Br J Dermatol 2006 155(2) 313-317 PubMed: 16882168

Yasukawa K, Sawamura D, McMillan JR, Nakamura H, Shimizu H
Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly.
J Biol Chem 2002 277(26) 23670-23674 PubMed: 11973334

Ye Wu , Qiang Gu , Jingmin Wang , Yanling Yang , Xiru Wu , Yuwu Jiang.
Clinical and genetic study in Chinese patients with alexander disease.
J Child Neurol 2008 23(2) 173-177 PubMed: 18079314

Yiasemides E, Trisnowati N, Su J, Dang N, Klingberg S, Marr P, Melbourne W, Tran K, Chow CW, Orchard D, Varigos G, Murrell DF
Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14.
Clin Exp Dermatol 2008 33(6) 689-697 PubMed: 18713255

Yin XZ, Zhang BR, Ding MP, Zhang H, Xia K, Hu ZM
[Pathological features and gene mutation analysis in two pedigrees of diffuse palmoplantar keratoderma]
Yi Chuan 2007 29(3) 301-305 PubMed: 17369150

Yoon MK, Warren JF, Holsclaw DS, Gritz DC, Margolis TP
A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy.
Br J Ophthalmol 2004 88(6) 752-756 PubMed: 15148206

Yoshihara T, Yamamoto M, Hattori N, Misu K, Mori K, Koike H, Sobue G
Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals.
J Peripher Nerv Syst 2002 7(4) 221-224 PubMed: 12477167

Young J, Morbois-Trabut L, Couzinet B, Lascols O, Dion E, Béréziat V, Fève B, Richard I, Capeau J, Chanson P, Vigouroux C
Type A insulin resistance syndrome revealing a novel lamin A mutation.
Diabetes 2005 54(6) 1873-1878 PubMed: 15919811

Yuan H, Liu F, Xiao B, He Y, Liang Y, Liu J
Mutation screening of entire keratin 5 and keratin 14 genes and identification of a novel mutation in a Chinese family with epidermolysis bullosa simplex Dowling-Meara.
J Eur Acad Dermatol Venereol 2008 () - PubMed: 18384561

Yuri T, Miki K, Tsukamoto R, Shinde A, Kusaka H, Tsubura A
Autopsy case of desminopathy involving skeletal and cardiac muscle.
Pathol Int 2007 57(1) 32-36 PubMed: 17199740

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Z

Zeller R, Ivandic BT, Ehlermann P, Mücke O, Zugck C, Remppis A, Giannitsis E, Katus HA, Weichenhan D
Large-scale mutation screening in patients with dilated or hypertrophic cardiomyopathy: a pilot study using DGGE.
J Mol Med 2006 84(8) 682-691 PubMed: 16715312

Zhang BR, Yin XZ, Xia K, Ding MP, Hu ZM, Zheng M, Liu ZR, Xia JH
[Mutation analysis of keratin 9 gene in a pedigree with epidermolytic palmoplantar keratoderma.]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2004 21(6) 570-573 PubMed: 15583984

Zhang JM, Yang ZW, Chen RY, Gao P, Zhang YR, Zhang LF
Two new mutations in the keratin 4 gene causing oral white sponge nevus in Chinese family.
Oral Dis 2008 () - PubMed: 18992023

Zhang Q, Guo X, Xiao X, Yi J, Jia X, Hejtmancik JF
Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family.
Mol Vis 2004 10() 890-900 PubMed: 15570218

Zhang XN, He XH, Lai Z, Yin WG, Le YP, Guo JM, Mao W, He XL, Li JC
An insertion-deletion mutation in keratin 9 in three Chinese families with epidermolytic palmoplantar keratoderma.
Br J Dermatol 2005 152(4) 804-806 PubMed: 15840121

Zhao JJ, Zhang ZH, Niu ZM, Xiang LH, Ye XY, Huang W, Zheng ZZ
Mutation M157R of keratin 9 in a Chinese family with epidermolytic palmoplantar keratoderma.
Int J Dermatol 2008 47(6) 634-637 PubMed: 18477167

Zhong B, Strnad P, Selmi C, Invernizzi P, Tao GZ, Caleffi A, Chen M, Bianchi I, Podda M, Pietrangelo A, Gershwin ME, Omary MB
Keratin variants are overrepresented in primary biliary cirrhosis and associate with disease severity.
Hepatology 2009 50(2) 546-554 PubMed: 19585610

Zhou HL, Yang S, Gao M, Zhao XY, Zhu YG, Li W, Ren YQ, Liang YH, Du WH, Zhang XJ
A novel missense mutation L468Q of keratin 6a in pachyonychia congenita type 1.
J Eur Acad Dermatol Venereol 2007 21(3) 351-355 PubMed: 17309457

Zirn B, Kress W, Grimm T, Berthold LD, Neubauer B, Kuchelmeister K, Müller U, Hahn A
Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy.
Am J Med Genet A 2008 146(8) 1049-1054 PubMed: 18348272

Zlotogorski A, Horev L, Glaser B
Monilethrix: a keratin hHb6 mutation is co-dominant with variable expression.
Exp Dermatol 1998 7(5) 268-272 PubMed: 9832314

Züchner S, Vorgerd M, Sindern E, Schröder JM
The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.
Neuromuscul Disord 2004 14(2) 147-157 PubMed: 14733962

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