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Items: 1 to 20 of 113

1.

Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.

Rothnagel JA, Dominey AM, Dempsey LD, Longley MA, Greenhalgh DA, Gagne TA, Huber M, Frenk E, Hohl D, Roop DR.

Science. 1992 Aug 21;257(5073):1128-30.

PMID:
1380725
2.

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.

PMID:
7509230
3.

Novel and recurrent mutations in keratin 10 causing bullous congenital ichthyosiform erythroderma.

McLean WH, Morley SM, Higgins C, Bowden PE, White M, Leigh IM, Lane EB.

Exp Dermatol. 1999 Apr;8(2):120-3.

PMID:
10232402
4.

A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis.

Chipev CC, Korge BP, Markova N, Bale SJ, DiGiovanna JJ, Compton JG, Steinert PM.

Cell. 1992 Sep 4;70(5):821-8.

PMID:
1381288
5.

Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis.

Chipev CC, Yang JM, DiGiovanna JJ, Steinert PM, Marekov L, Compton JG, Bale SJ.

Am J Hum Genet. 1994 Feb;54(2):179-90.

6.

The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes.

Cheng J, Syder AJ, Yu QC, Letai A, Paller AS, Fuchs E.

Cell. 1992 Sep 4;70(5):811-9.

PMID:
1381287
7.

Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene.

Cserhalmi-Friedman PB, Squeo R, Gordon D, Garzon M, Schneiderman P, Grossman ME, Christiano AM.

Clin Exp Dermatol. 2000 May;25(3):241-3.

PMID:
10844506
8.

Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1.

Sybert VP, Francis JS, Corden LD, Smith LT, Weaver M, Stephens K, McLean WH.

Am J Hum Genet. 1999 Mar;64(3):732-8.

9.

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.

10.

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.

PMID:
7524919
11.
12.

Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis.

Arin MJ, Longley MA, Epstein EH Jr, Rothnagel JA, Roop DR.

Exp Dermatol. 2000 Feb;9(1):16-9.

PMID:
10688370
13.

Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly.

Yasukawa K, Sawamura D, McMillan JR, Nakamura H, Shimizu H.

J Biol Chem. 2002 Jun 28;277(26):23670-4. Epub 2002 Apr 24.

14.

An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis.

Arin MJ, Longley MA, K├╝ster W, Huber M, Hohl D, Rothnagel JA, Roop DR.

Exp Dermatol. 1999 Apr;8(2):124-7.

PMID:
10232403
15.

Prenatal diagnosis for keratin mutations to exclude transmission of epidermolytic hyperkeratosis.

Rothnagel JA, Lin MT, Longley MA, Holder RA, Hazen PG, Levy ML, Roop DR.

Prenat Diagn. 1998 Aug;18(8):826-30.

PMID:
9742571
16.

Human keratin diseases: hereditary fragility of specific epithelial tissues.

Corden LD, McLean WH.

Exp Dermatol. 1996 Dec;5(6):297-307. Review.

PMID:
9028791
17.

Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratoderma.

Lee JH, Ahn KS, Lee CH, Youn SJ, Kim JW, Lee DY, Lee ES, Steinert PM, Yang JM.

Exp Dermatol. 2003 Dec;12(6):876-81.

PMID:
14675368
18.

Mutations in the 1A rod domain segment of the keratin 9 gene in epidermolytic palmoplantar keratoderma.

Yang JM, Lee S, Kang HJ, Lee JH, Yeo UC, Son IY, Park KB, Steinert PM, Lee ES.

Acta Derm Venereol. 1998 Nov;78(6):412-6.

PMID:
9833037
19.

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.

PMID:
9184002
20.

A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.

Hovnanian A, Pollack E, Hilal L, Rochat A, Prost C, Barrandon Y, Goossens M.

Nat Genet. 1993 Apr;3(4):327-32.

PMID:
7526933
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