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22. A novel keratin 9 gene mutation (Met156Arg) in a Japanese patient with epidermolytic palmoplantar keratoderma. Shimazu K; Tsunemi Y; Hattori N; Saeki H; Komine M; Adachi M; Tamaki K Int J Dermatol; 2006 Sep; 45(9):1128-30. PubMed ID: 16961539 [No Abstract] [Full Text] [Related]
23. 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]
24. A keratin K10 gene mutation in a Japanese patient with epidermolytic hyperkeratosis. Nomura K; Meng X; Umeki K; Tamai K; Sawamura D; Hashimoto I; Kikuchi T Jpn J Hum Genet; 1997 Mar; 42(1):217-23. PubMed ID: 9184002 [TBL] [Abstract][Full Text] [Related]
25. 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]
26. Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland. Covello SP; Irvine AD; McKenna KE; Munro CS; Nevin NC; Smith FJ; Uitto J; McLean WH J Invest Dermatol; 1998 Dec; 111(6):1207-9. PubMed ID: 9856842 [TBL] [Abstract][Full Text] [Related]
27. Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin. Terron-Kwiatkowski A; van Steensel MA; van Geel M; Lane EB; McLean WH; Steijlen PM J Invest Dermatol; 2006 Mar; 126(3):607-13. PubMed ID: 16439967 [TBL] [Abstract][Full Text] [Related]
28. 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]
29. Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event. Lacz NL; Schwartz RA; Kihiczak G Int J Dermatol; 2005 Jan; 44(1):1-6. PubMed ID: 15663649 [TBL] [Abstract][Full Text] [Related]
30. Striate palmoplantar keratoderma arising from desmoplakin and desmoglein 1 mutations is associated with contrasting perturbations of desmosomes and the keratin filament network. Wan H; Dopping-Hepenstal PJ; Gratian MJ; Stone MG; Zhu G; Purkis PE; South AP; Keane F; Armstrong DK; Buxton RS; McGrath JA; Eady RA Br J Dermatol; 2004 May; 150(5):878-91. PubMed ID: 15149499 [TBL] [Abstract][Full Text] [Related]
31. Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma. Smith FJD; Kreuser-Genis IM; Jury CS; Wilson NJ; Terron-Kwiatowski A; Zamiri M Clin Exp Dermatol; 2019 Jul; 44(5):528-534. PubMed ID: 30288772 [TBL] [Abstract][Full Text] [Related]
32. A novel keratin 9 gene mutation (Asn160His) in a Taiwanese family with epidermolytic palmoplantar keratoderma. Lin JH; Lin MH; Yang MH; Chao SC Clin Exp Dermatol; 2004 May; 29(3):308-10. PubMed ID: 15115518 [TBL] [Abstract][Full Text] [Related]
35. A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma. He XH; Zhang XN; Mao W; Chen HP; Xu LR; Chen H; He XL; Le YP Br J Dermatol; 2004 Apr; 150(4):647-51. PubMed ID: 15099359 [TBL] [Abstract][Full Text] [Related]
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39. Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q. Compton JG; DiGiovanna JJ; Santucci SK; Kearns KS; Amos CI; Abangan DL; Korge BP; McBride OW; Steinert PM; Bale SJ Nat Genet; 1992 Jul; 1(4):301-5. PubMed ID: 1284546 [TBL] [Abstract][Full Text] [Related]
40. Arginine in the beginning of the 1A rod domain of the keratin 10 gene is the hot spot for the mutation in epidermolytic hyperkeratosis. Yang JM; Nam K; Kim SW; Jung SY; Min HG; Yeo UC; Park KB; Lee JH; Suhr KB; Park JK; Lee ES J Dermatol Sci; 1999 Feb; 19(2):126-33. PubMed ID: 10098704 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]