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All publications related to disease Epidermolysis bullosa simplex, Weber-Cockayne type. To link directly to a specific first author surname click on the required letter below.
ABCEFGHILMPRSWXY 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 B 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 Back to index C 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 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 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 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 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 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 Back to index 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 Back to index F 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 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 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 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 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.
Hum Mutat 1996 8(1) 57-63 PubMed: 8807337 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 Indelman M, Bergman R, Sprecher E
A novel recessive missense mutation in KRT14 reveals striking phenotypic heterogeneity in epidermolysis bullosa simplex.
J Invest Dermatol 2005 124(1) 272-274 PubMed: 15654986 Back to index L 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.
Clin Exp Dermatol 2004 29(5) 539-541 PubMed: 15347343 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 Back to index M 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 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 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 Back to index R 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, 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 Back to index S 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 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 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 Back to index X 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 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 Back to index This page was last modified: April 17 2009 14:28:35. |
