176 related articles for article (PubMed ID: 17855059)
1. Novel keratin 5 mutations in epidermolysis bullosa simplex: cases with unusual genotype-phenotype correlation.
Oh SW; Lee JS; Kim MY; Kim SC
J Dermatol Sci; 2007 Dec; 48(3):229-32. PubMed ID: 17855059
[No Abstract] [Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. Epidermolysis bullosa simplex with mottled pigmentation due to de novo P25L mutation in keratin 5 in an Italian patient.
Pascucci M; Posteraro P; Pedicelli C; Provini A; Auricchio L; Paradisi M; Castiglia D
Eur J Dermatol; 2006; 16(6):620-2. PubMed ID: 17229601
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. [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]
10. 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]
11. 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]
12. Weber-Cockayne type of epidermolysis bullosa simplex associated with a novel mutation in keratin 5 and amyloid deposits.
Chiang YY; Chao SC; Chen WY; Lee WR; Wang KH
Br J Dermatol; 2008 Dec; 159(6):1370-2. PubMed ID: 18764844
[No Abstract] [Full Text] [Related]
13. 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]
14. Epidermolysis bullosa simplex-generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype-phenotype correlation and in silico modeling analysis.
Lalor L; Titeux M; Palisson F; Fuentes I; Yubero MJ; Tasanen K; Huilaja L; Has C; Tadini G; Haggstrom AN; Hovnanian A; Lucky AW
Pediatr Dermatol; 2019 Jan; 36(1):132-138. PubMed ID: 30515866
[TBL] [Abstract][Full Text] [Related]
15. A novel keratin 5 mutation in a familial cluster.
Lev-Tov H; Sivamani RK; Burrall B
Dermatol Online J; 2012 Jun; 18(6):1. PubMed ID: 22747925
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5.
Kumagai Y; Umegaki-Arao N; Sasaki T; Nakamura Y; Takahashi H; Ashida A; Tsunemi Y; Kawashima M; Shimizu A; Ishiko A; Nakamura K; Tsuchihashi H; Amagai M; Kubo A
J Eur Acad Dermatol Venereol; 2017 May; 31(5):e241-e243. PubMed ID: 27730678
[No Abstract] [Full Text] [Related]
18. 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]
19. Generalized, severe epidermolysis bullosa simplex caused by a Keratin 5 p.E477K mutation.
Sheppard SE; Anderson LE; Sibbald C; Cotton C; Bhoj E; Perman MJ; Castelo-Soccio L
Pediatr Dermatol; 2019 Nov; 36(6):1007-1009. PubMed ID: 31579952
[TBL] [Abstract][Full Text] [Related]
20. Epidermolysis bullosa simplex with mottled pigmentation due to a rare keratin 5 mutation: cutaneous findings in infancy.
Geller L; Kristal L; Morel KD
Pediatr Dermatol; 2013; 30(5):631-2. PubMed ID: 23889190
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]