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All publications related to disease Epidermolysis bullosa simplex, Köebner type. To link directly to a specific first author surname click on the required letter below.
ABCDGHLMOPRSY 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 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, Rothman AL, Epstein EH
Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities.
Science 1991 254(5035) 1202-1205 PubMed: 1720261 Back to index C 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 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 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 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 Back to index G 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 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 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 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 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 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 Humphries MM, Sheils DM, Farrar GJ, Kumar-Singh R, Kenna PF, Mansergh FC, Jordan SA, Young M, Humphries P
A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.
Hum Mutat 1993 2(1) 37-42 PubMed: 7682883 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 L 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 Back to index M 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 O Oh SW, Lee JS, Kim MY, Kim SC
Novel keratin 5 mutations in epidermolysis bullosa simplex: Cases with unusual genotype-phenotype correlation.
J Dermatol Sci 2007 () - PubMed: 17855059 Back to index P 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, 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 Back to index S 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 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 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.
Am J Hum Genet 1995 56(3) 577-585 PubMed: 7534039 Back to index Y 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 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. |
