386 related articles for article (PubMed ID: 12648226)
1. Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5.
Sprecher E; Yosipovitch G; Bergman R; Ciubutaro D; Indelman M; Pfendner E; Goh LC; Miller CJ; Uitto J; Richard G
J Invest Dermatol; 2003 Apr; 120(4):623-6. PubMed ID: 12648226
[TBL] [Abstract][Full Text] [Related]
2. Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix.
Sprecher E; Ishida-Yamamoto A; Becker OM; Marekov L; Miller CJ; Steinert PM; Neldner K; Richard G
J Invest Dermatol; 2001 Apr; 116(4):511-9. PubMed ID: 11286616
[TBL] [Abstract][Full Text] [Related]
3. Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis.
Virtanen M; Smith SK; Gedde-Dahl T; Vahlquist A; Bowden PE
J Invest Dermatol; 2003 Nov; 121(5):1013-20. PubMed ID: 14708600
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema.
Gu LH; Kim SC; Ichiki Y; Park J; Nagai M; Kitajima Y
J Invest Dermatol; 2003 Sep; 121(3):482-5. PubMed ID: 12925204
[TBL] [Abstract][Full Text] [Related]
7. A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.
Richardson ES; Lee JB; Hyde PH; Richard G
J Invest Dermatol; 2006 Jan; 126(1):79-84. PubMed ID: 16417221
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Genetic bases of epidermolysis bullosa simplex and epidermolytic hyperkeratosis.
Fuchs E; Coulombe P; Cheng J; Chan YM; Hutton E; Syder A; Degenstein L; Yu QC; Letai A; Vassar R
J Invest Dermatol; 1994 Nov; 103(5 Suppl):25S-30S. PubMed ID: 7525738
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12.
Bonifas JM; Bare JW; Chen MA; Lee MK; Slater CA; Goldsmith LA; Epstein EH
J Invest Dermatol; 1992 Nov; 99(5):524-7. PubMed ID: 1385543
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens.
Rothnagel JA; Traupe H; Wojcik S; Huber M; Hohl D; Pittelkow MR; Saeki H; Ishibashi Y; Roop DR
Nat Genet; 1994 Aug; 7(4):485-90. PubMed ID: 7524919
[TBL] [Abstract][Full Text] [Related]
15. A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case.
Müller FB; Anton-Lamprecht I; Küster W; Korge BP
J Invest Dermatol; 1999 Jun; 112(6):988-90. PubMed ID: 10383750
[TBL] [Abstract][Full Text] [Related]
16. Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1.
Tal O; Bergman R; Alcalay J; Indelman M; Sprecher E
Clin Exp Dermatol; 2005 Jan; 30(1):64-7. PubMed ID: 15663507
[TBL] [Abstract][Full Text] [Related]
17. A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis.
Rothnagel JA; Fisher MP; Axtell SM; Pittelkow MR; Anton-Lamprecht I; Huber M; Hohl D; Roop DR
Hum Mol Genet; 1993 Dec; 2(12):2147-50. PubMed ID: 7509230
[TBL] [Abstract][Full Text] [Related]
18. The molecular genetics of keratin disorders.
Smith F
Am J Clin Dermatol; 2003; 4(5):347-64. PubMed ID: 12688839
[TBL] [Abstract][Full Text] [Related]
19. Genetic skin disorders of keratin.
Fuchs E
J Invest Dermatol; 1992 Dec; 99(6):671-4. PubMed ID: 1281858
[No Abstract] [Full Text] [Related]
20. An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1.
Kremer H; Lavrijsen AP; McLean WH; Lane EB; Melchers D; Ruiter DJ; Mariman EC; Steijlen PM
J Invest Dermatol; 1998 Dec; 111(6):1224-6. PubMed ID: 9856846
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]