266 related articles for article (PubMed ID: 12930305)
1. Functional testing of keratin 14 mutant proteins associated with the three major subtypes of epidermolysis bullosa simplex.
Sørensen CB; Andresen BS; Jensen UB; Jensen TG; Jensen PK; Gregersen N; Bolund L
Exp Dermatol; 2003 Aug; 12(4):472-9. PubMed ID: 12930305
[TBL] [Abstract][Full Text] [Related]
2. 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.
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
J Invest Dermatol; 1999 Feb; 112(2):184-90. PubMed ID: 9989794
[TBL] [Abstract][Full Text] [Related]
3. Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.
Müller FB; Küster W; Wodecki K; Almeida H; Bruckner-Tuderman L; Krieg T; Korge BP; Arin MJ
Hum Mutat; 2006 Jul; 27(7):719-20. PubMed ID: 16786515
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex.
Kang TW; Lee JS; Kim SE; Oh SW; Kim SC
J Dermatol Sci; 2010 Feb; 57(2):90-4. PubMed ID: 20060687
[TBL] [Abstract][Full Text] [Related]
7. Generation and characterization of epidermolysis bullosa simplex cell lines: scratch assays show faster migration with disruptive keratin mutations.
Morley SM; D'Alessandro M; Sexton C; Rugg EL; Navsaria H; Shemanko CS; Huber M; Hohl D; Heagerty AI; Leigh IM; Lane EB
Br J Dermatol; 2003 Jul; 149(1):46-58. PubMed ID: 12890194
[TBL] [Abstract][Full Text] [Related]
8. Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14).
Shemanko CS; Mellerio JE; Tidman MJ; Lane EB; Eady RA
J Invest Dermatol; 1998 Nov; 111(5):893-5. PubMed ID: 9804355
[TBL] [Abstract][Full Text] [Related]
9. Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure.
Jerábková B; Marek J; Bucková H; Kopecková L; Veselý K; Valícková J; Fajkus J; Fajkusová L
Br J Dermatol; 2010 May; 162(5):1004-13. PubMed ID: 20030639
[TBL] [Abstract][Full Text] [Related]
10. [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]
11. A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease.
Batta K; Rugg EL; Wilson NJ; West N; Goodyear H; Lane EB; Gratian M; Dopping-Hepenstal P; Moss C; Eady RA
Br J Dermatol; 2000 Sep; 143(3):621-7. PubMed ID: 10971341
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses.
Coulombe PA; Hutton ME; Letai A; Hebert A; Paller AS; Fuchs E
Cell; 1991 Sep; 66(6):1301-11. PubMed ID: 1717157
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Temperature sensitivity of the keratin cytoskeleton and delayed spreading of keratinocyte lines derived from EBS patients.
Morley SM; Dundas SR; James JL; Gupta T; Brown RA; Sexton CJ; Navsaria HA; Leigh IM; Lane EB
J Cell Sci; 1995 Nov; 108 ( Pt 11)():3463-71. PubMed ID: 8586658
[TBL] [Abstract][Full Text] [Related]
17. Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.
Bolling MC; Lemmink HH; Jansen GH; Jonkman MF
Br J Dermatol; 2011 Mar; 164(3):637-44. PubMed ID: 21375516
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.
Rugg EL; Horn HM; Smith FJ; Wilson NJ; Hill AJ; Magee GJ; Shemanko CS; Baty DU; Tidman MJ; Lane EB
J Invest Dermatol; 2007 Mar; 127(3):574-80. PubMed ID: 17039244
[TBL] [Abstract][Full Text] [Related]
20. Three severe cases of EBS Dowling-Meara caused by missense and frameshift mutations in the keratin 14 gene.
Titeux M; Mazereeuw-Hautier J; Hadj-Rabia S; Prost C; Tonasso L; Fraitag S; de Prost Y; Hovnanian A; Bodemer C
J Invest Dermatol; 2006 Apr; 126(4):773-6. PubMed ID: 16439965
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
