246 related articles for article (PubMed ID: 7526933)
1. 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]
2. 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]
3. Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex.
Corden LD; Mellerio JE; Gratian MJ; Eady RA; Harper JI; Lacour M; Magee G; Lane EB; McGrath JA; McLean WH
Hum Mutat; 1998; 11(4):279-85. PubMed ID: 9554744
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Epidermolysis bullosa simplex in Israel: clinical and genetic features.
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
Arch Dermatol; 2003 Apr; 139(4):498-505. PubMed ID: 12707098
[TBL] [Abstract][Full Text] [Related]
6. Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland.
Hamada T; Kawano Y; Szczecinska W; Wozniak K; Yasumoto S; Kowalewski C; Hashimoto T
Arch Dermatol Res; 2005 Jun; 296(12):577-9. PubMed ID: 15827748
[TBL] [Abstract][Full Text] [Related]
7. A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype.
Liovic M; Bowden PE; Marks R; Komel R
Exp Dermatol; 2004 May; 13(5):332-4. PubMed ID: 15140024
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.
Schuilenga-Hut PH; Vlies Pv; Jonkman MF; Waanders E; Buys CH; Scheffer H
Hum Mutat; 2003 Apr; 21(4):447. PubMed ID: 12655565
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Epidermolysis bullosa simplex.
Coulombe PA; Fuchs E
Semin Dermatol; 1993 Sep; 12(3):173-90. PubMed ID: 7692916
[TBL] [Abstract][Full Text] [Related]
12. Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14.
Yiasemides E; Trisnowati N; Su J; Dang N; Klingberg S; Marr P; Melbourne W; Tran K; Chow CW; Orchard D; Varigos G; Murrell DF
Clin Exp Dermatol; 2008 Nov; 33(6):689-97. PubMed ID: 18713255
[TBL] [Abstract][Full Text] [Related]
13. Mutations in the genes for epidermal keratins in epidermolysis bullosa and epidermolytic hyperkeratosis.
Leigh IM; Lane EB
Arch Dermatol; 1993 Dec; 129(12):1571-7. PubMed ID: 7504434
[TBL] [Abstract][Full Text] [Related]
14. [Epidermolysis bullosa simplex: genotype-phenotype correlation in Danish patients].
Sørensen CB; Ladekjaer-Mikkelsen AS; Andresen BS; Brandrup F; Veien NK; Buus SK; Anton-Lamprecht I; Kruse T; Jensen PK; Eiberg H; Bolund L; Gregersen N
Ugeskr Laeger; 2000 Mar; 162(13):1873-6. PubMed ID: 10765693
[TBL] [Abstract][Full Text] [Related]
15. Recessive epidermolysis bullosa simplex phenotype reproduced in vitro: ablation of keratin 14 is partially compensated by keratin 17.
El Ghalbzouri A; Jonkman M; Kempenaar J; Ponec M
Am J Pathol; 2003 Nov; 163(5):1771-9. PubMed ID: 14578178
[TBL] [Abstract][Full Text] [Related]
16. Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.
García M; Santiago JL; Terrón A; Hernández-Martín A; Vicente A; Fortuny C; De Lucas R; López JC; Cuadrado-Corrales N; Holguín A; Illera N; Duarte B; Sánchez-Jimeno C; Llames S; García E; Ayuso C; Martínez-Santamaría L; Castiglia D; De Luca N; Torrelo A; Mechan D; Baty D; Zambruno G; Escámez MJ; Del Río M
Br J Dermatol; 2011 Sep; 165(3):683-92. PubMed ID: 21623745
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex.
Csikós M; Szalai Z; Becker K; Sebõk B; Schneider I; Horváth A; Kárpáti S
Exp Dermatol; 2004 Mar; 13(3):185-91. PubMed ID: 14987259
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.
Humphries MM; Sheils DM; Farrar GJ; Kumar-Singh R; Kenna PF; Mansergh FC; Jordan SA; Young M; Humphries P
Hum Mutat; 1993; 2(1):37-42. PubMed ID: 7682883
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]