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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.
ABCDEFGHIJKLMNOPRSTUVWXYZ A 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 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 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, 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 Back to index B 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 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 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 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 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 Back to index 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 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 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 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 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 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 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.
Neuromuscul Disord 2002 12(1) 19-25 PubMed: 11731280 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.
Am J Hum Genet 2000 66(4) 1426-1431 PubMed: 10729115 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.
Br J Dermatol 2001 144(5) 1058-1062 PubMed: 11359398 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.
Hum Mutat 1998 11(4) 279-285 PubMed: 9554744 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.
Br J Ophthalmol 2000 84(5) 527-530 PubMed: 10781519 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.
Cell 1991 66(6) 1301-1311 PubMed: 1717157 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.
J Invest Dermatol 1998 111(6) 1207-1209 PubMed: 9856842 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.
Acta Derm Venereol 2003 83(4) 303-305 PubMed: 12926810 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 Back to index 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.
Clin Genet 2004 65(1) 52-54 PubMed: 15032975 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 Jonghe P, Mersivanova I, Nelis E, Del Favero J, Martin JJ, Van Broeckhoven C, Evgrafov O, Timmerman V
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