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All publications related to disease Epidermolysis bullosa simplex, Dowling-Meara type. To link directly to a specific first author surname click on the required letter below.
ACFGHIKLMNOPRSTUWY 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 Back to index C 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 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 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 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 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 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 F Frangu M, Gedde-Dahl T, Verder H
[Epidermolysis bullosa simplex Dowling-Meara]
Ugeskr Laeger 2006 168(48) 4222-4224 PubMed: 17147951 Back to index G 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 Back to index 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 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 Horn HM, Tidman MJ
The clinical spectrum of epidermolysis bullosa simplex.
Br J Dermatol 2000 142(3) 468-472 PubMed: 10735952 Hu ZL, Smith L, Martins S, Bonifas JM, Chen H, Epstein EH
Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex--increased severity of disease in a homozygote.
J Invest Dermatol 1997 109(3) 360-364 PubMed: 9284105 Hut PH, v d Vlies P, Jonkman MF, Verlind E, Shimizu H, Buys CH, Scheffer H
Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis.
J Invest Dermatol 2000 114(4) 616-619 PubMed: 10733662 Back to index I 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.
J Invest Dermatol 1997 109(6) 815-816 PubMed: 9406827 Back to index K 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.
J Invest Dermatol 2005 124(5) 1083-1085 PubMed: 15854057 Back to index 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.
Nature 1992 356(6366) 244-246 PubMed: 1372711 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.
J Eur Acad Dermatol Venereol 2007 21(7) 979-981 PubMed: 17659012 Back to index M 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 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, 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 Back to index N 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.
J Formos Med Assoc 2001 100(6) 407-411 PubMed: 11480251 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.
J Invest Dermatol 1996 107(2) 253-254 PubMed: 8757772 Back to index O 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.
J Dermatol Sci 2009 () - PubMed: 19854623 Back to index P Pfendner EG, Nakano A, Pulkkinen L, Christiano AM, Uitto J
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.
Prenat Diagn 2003 23(6) 447-456 PubMed: 12813757 Pfendner EG, Sadowski SG, Uitto J
Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis.
J Invest Dermatol 2005 125(2) 239-243 PubMed: 16098032 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 Back to index R 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.
Prenat Diagn 2000 20(5) 371-377 PubMed: 10820403 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.
J Invest Dermatol 2007 127(3) 574-580 PubMed: 17039244 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 Back to index S 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 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.
Hum Mutat 2003 21(4) 447-447 PubMed: 12655565 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 Smith FJ, Morley SM, McLean WH
Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex.
J Invest Dermatol 2004 122(1) 73-77 PubMed: 14962092 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.
J Invest Dermatol 1997 108(3) 349-353 PubMed: 9036937 Stephens K, Sybert VP, Wijsman EM, Ehrlich P, Spencer A
A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis.
J Invest Dermatol 1993 101(2) 240-243 PubMed: 7688405 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.
J Dermatol 2009 36(8) 447-452 PubMed: 19691749 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.
J Invest Dermatol 1999 112(2) 184-190 PubMed: 9989794 Back to index T 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 Back to index U 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.
J Dermatol Sci 1996 11(1) 64-69 PubMed: 8867769 Back to index W 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 Back to index Y 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 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 Back to index This page was last modified: April 17 2009 14:28:35. |
