281 related articles for article (PubMed ID: 19945613)
1. Epidermolysis bullosa simplex.
Sprecher E
Dermatol Clin; 2010 Jan; 28(1):23-32. PubMed ID: 19945613
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. A new pathogenic keratin 5 mutation in a Hindoestan family with localized epidermolysis bullosa simplex.
Flohil SC; Bolling MC; Kooi KA; Lemmink HH; Jonkman MF
Eur J Dermatol; 2010; 20(1):27-9. PubMed ID: 19797037
[TBL] [Abstract][Full Text] [Related]
7. Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
Arin MJ; Grimberg G; Schumann H; De Almeida H; Chang YR; Tadini G; Kohlhase J; Krieg T; Bruckner-Tuderman L; Has C
Br J Dermatol; 2010 Jun; 162(6):1365-9. PubMed ID: 20199538
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Epidermolysis bullosa simplex due to KRT5 mutations: mutation-related differences in cellular fragility and the protective effects of trimethylamine N-oxide in cultured primary keratinocytes.
Chamcheu JC; Virtanen M; Navsaria H; Bowden PE; Vahlquist A; Törmä H
Br J Dermatol; 2010 May; 162(5):980-9. PubMed ID: 20128788
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.
Yasukawa K; Sawamura D; Goto M; Nakamura H; Jung SY; Kim SC; Shimizu H
Br J Dermatol; 2006 Aug; 155(2):313-7. PubMed ID: 16882168
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Severe epidermolysis bullosa simplex phenotype caused by codominant mutations p.Ile377Thr in keratin 14 and p.Gly138Glu in keratin 5.
Bchetnia M; Allard JP; Boucher-Lafleur AM; Cruz Marino T; Dupéré A; Powell J; McCuaig C; Bernier MÈ; Laprise C
Exp Dermatol; 2020 Oct; 29(10):961-969. PubMed ID: 32885477
[TBL] [Abstract][Full Text] [Related]
14. Epidermolysis bullosa simplex.
Coulombe PA; Fuchs E
Semin Dermatol; 1993 Sep; 12(3):173-90. PubMed ID: 7692916
[TBL] [Abstract][Full Text] [Related]
15. A novel mutation (p.Thr198Ser) in the 1A helix of keratin 5 causes the localized variant of epidermolysis bullosa simplex.
Bowden PE; Knight AG; Liovic M
Exp Dermatol; 2009 Jul; 18(7):650-2. PubMed ID: 19220453
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Characterization of immortalized human epidermolysis bullosa simplex (KRT5) cell lines: trimethylamine N-oxide protects the keratin cytoskeleton against disruptive stress condition.
Chamcheu JC; Lorié EP; Akgul B; Bannbers E; Virtanen M; Gammon L; Moustakas A; Navsaria H; Vahlquist A; Törmä H
J Dermatol Sci; 2009 Mar; 53(3):198-206. PubMed ID: 19157792
[TBL] [Abstract][Full Text] [Related]
18. A transient epidermolysis bullosa simplex-like phenotype associated with bexarotene treatment in a G138E KRT5 heterozygote.
Trufant JW; Kreizenbeck GM; Carlson KR; Muthusamy V; Girardi M; Bosenberg MW
J Cutan Pathol; 2010 Nov; 37(11):1155-60. PubMed ID: 20849457
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Novel KRT14 mutation causing epidermolysis bullosa simplex with variable phenotype.
Jankowski M; Wertheim-Tysarowska K; Jakubowski R; Sota J; Nowak W; Czajkowski R
Exp Dermatol; 2014 Sep; 23(9):684-7. PubMed ID: 24981776
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]