133 related articles for article (PubMed ID: 9740251)
1. A novel mutation in the L12 domain of keratin 5 in the Köbner variant of epidermolysis bullosa simplex.
Galligan P; Listwan P; Siller GM; Rothnagel JA
J Invest Dermatol; 1998 Sep; 111(3):524-7. PubMed ID: 9740251
[TBL] [Abstract][Full Text] [Related]
2. Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex.
Müller FB; Küster W; Bruckner-Tuderman L; Korge BP
J Invest Dermatol; 1998 Nov; 111(5):900-2. PubMed ID: 9804357
[TBL] [Abstract][Full Text] [Related]
3. K5 D328E: a novel missense mutation in the linker 12 domain of keratin 5 associated with epidermolysis bullosa simplex (Weber-Cockayne).
Liovic M; Podrumac B; Dragos V; Vouk K; Komel R
Hum Hered; 2000; 50(4):234-6. PubMed ID: 10782015
[TBL] [Abstract][Full Text] [Related]
4. A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex.
Li JG; Feng J; Xiao SX; Ai YL; Wang JM; Peng ZH
Clin Exp Dermatol; 2004 Sep; 29(5):539-41. PubMed ID: 15347343
[TBL] [Abstract][Full Text] [Related]
5. A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara.
Irvine AD; McKenna KE; Bingham A; Nevin NC; Hughes AE
J Invest Dermatol; 1997 Dec; 109(6):815-6. PubMed ID: 9406827
[TBL] [Abstract][Full Text] [Related]
6. A novel nonsense mutation at E106 of the 2B rod domain of keratin 14 causes dominant epidermolysis bullosa simplex.
Gu LH; Ichiki Y; Sato M; Kitajima Y
J Dermatol; 2002 Mar; 29(3):136-45. PubMed ID: 11990248
[TBL] [Abstract][Full Text] [Related]
7. A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex.
Nomura K; Shimizu H; Meng X; Umeki K; Tamai K; Sawamura D; Nagao K; Kawakami T; Nishikawa T; Hashimoto I
J Invest Dermatol; 1996 Aug; 107(2):253-4. PubMed ID: 8757772
[TBL] [Abstract][Full Text] [Related]
8. 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.
Rugg EL; Rachet-Préhu MO; Rochat A; Barrandon Y; Goossens M; Lane EB; Hovnanian A
Eur J Hum Genet; 1999 Apr; 7(3):293-300. PubMed ID: 10234505
[TBL] [Abstract][Full Text] [Related]
9. Novel KRT14 mutation in a Taiwanese patient with epidermolysis bullosa simplex (Köbner type).
Chao SC; Yang MH; Lee SF
J Formos Med Assoc; 2002 Apr; 101(4):287-90. PubMed ID: 12101866
[TBL] [Abstract][Full Text] [Related]
10. Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex.
Dong W; Ryynänen M; Uitto J
Hum Mutat; 1993; 2(2):94-102. PubMed ID: 7686424
[TBL] [Abstract][Full Text] [Related]
11. A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes.
Liovic M; Stojan J; Bowden PE; Gibbs D; Vahlquist A; Lane EB; Komel R
J Invest Dermatol; 2001 Jun; 116(6):964-9. PubMed ID: 11407988
[TBL] [Abstract][Full Text] [Related]
12. A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.
Hovnanian A; Pollack E; Hilal L; Rochat A; Prost C; Barrandon Y; Goossens M
Nat Genet; 1993 Apr; 3(4):327-32. PubMed ID: 7526933
[TBL] [Abstract][Full Text] [Related]
13. The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.
Uttam J; Hutton E; Coulombe PA; Anton-Lamprecht I; Yu QC; Gedde-Dahl T; Fine JD; Fuchs E
Proc Natl Acad Sci U S A; 1996 Aug; 93(17):9079-84. PubMed ID: 8799157
[TBL] [Abstract][Full Text] [Related]
14. Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function.
Rugg EL; Morley SM; Smith FJ; Boxer M; Tidman MJ; Navsaria H; Leigh IM; Lane EB
Nat Genet; 1993 Nov; 5(3):294-300. PubMed ID: 7506097
[TBL] [Abstract][Full Text] [Related]
15. Expression of a truncated keratin 5 may contribute to severe palmar--plantar hyperkeratosis in epidermolysis bullosa simplex patients.
Livingston RJ; Sybert VP; Smith LT; Dale BA; Presland RB; Stephens K
J Invest Dermatol; 2001 Jun; 116(6):970-4. PubMed ID: 11407989
[TBL] [Abstract][Full Text] [Related]
16. A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein.
Chan Y; Anton-Lamprecht I; Yu QC; Jäckel A; Zabel B; Ernst JP; Fuchs E
Genes Dev; 1994 Nov; 8(21):2574-87. PubMed ID: 7525408
[TBL] [Abstract][Full Text] [Related]
17. The genetic basis of Weber-Cockayne epidermolysis bullosa simplex.
Chan YM; Yu QC; Fine JD; Fuchs E
Proc Natl Acad Sci U S A; 1993 Aug; 90(15):7414-8. PubMed ID: 7688477
[TBL] [Abstract][Full Text] [Related]
18. Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex.
Chan YM; Yu QC; LeBlanc-Straceski J; Christiano A; Pulkkinen L; Kucherlapati RS; Uitto J; Fuchs E
J Cell Sci; 1994 Apr; 107 ( Pt 4)():765-74. PubMed ID: 7520042
[TBL] [Abstract][Full Text] [Related]
19. A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering.
Lane EB; Rugg EL; Navsaria H; Leigh IM; Heagerty AH; Ishida-Yamamoto A; Eady RA
Nature; 1992 Mar; 356(6366):244-6. PubMed ID: 1372711
[TBL] [Abstract][Full Text] [Related]
20. Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes.
Cummins RE; Klingberg S; Wesley J; Rogers M; Zhao Y; Murrell DF
J Invest Dermatol; 2001 Nov; 117(5):1103-7. PubMed ID: 11710919
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
