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Items: 1 to 20 of 208

1.

A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis.

Müller FB, Huber M, Kinaciyan T, Hausser I, Schaffrath C, Krieg T, Hohl D, Korge BP, Arin MJ.

Hum Mol Genet. 2006 Apr 1;15(7):1133-41.

PMID:
16505000
2.
3.

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
4.
5.

Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene.

Michael EJ, Schneiderman P, Grossman ME, Christiano AM.

Exp Dermatol. 1999 Dec;8(6):501-3.

PMID:
10597140
6.
7.

Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patients.

Sun XK, Ma LL, Xie YQ, Zhu XJ.

J Dermatol Sci. 2002 Sep;29(3):195-200.

PMID:
12234709
8.

A transgenic mouse model that recapitulates the clinical features of both neonatal and adult forms of the skin disease epidermolytic hyperkeratosis.

Bickenbach JR, Longley MA, Bundman DS, Dominey AM, Bowden PE, Rothnagel JA, Roop DR.

Differentiation. 1996 Dec;61(2):129-39.

PMID:
8983179
9.

Identification of a de novo keratin 1 mutation in epidermolytic hyperkeratosis with palmoplantar involvement.

Math A, Frank J, Handisurya A, Poblete-Gutiérrez P, Slupetzky K, Födinger D, Winter D, Stingl G, Kirnbauer R.

Eur J Dermatol. 2006 Sep-Oct;16(5):507-10.

10.

Out of balance: consequences of a partial keratin 10 knockout.

Reichelt J, Bauer C, Porter R, Lane E, Magin V.

J Cell Sci. 1997 Sep;110 ( Pt 18):2175-86.

11.

Human keratin diseases: hereditary fragility of specific epithelial tissues.

Corden LD, McLean WH.

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

PMID:
9028791
12.

Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex.

Corden LD, Mellerio JE, Gratian MJ, Eady RA, Harper JI, Lacour M, Magee G, Lane EB, McGrath JA, McLean WH.

Hum Mutat. 1998;11(4):279-85.

PMID:
9554744
13.

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
14.

Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families.

Shamsher MK, Navsaria HA, Stevens HP, Ratnavel RC, Purkis PE, Kelsell DP, McLean WH, Cook LJ, Griffiths WA, Gschmeissner S, et al.

Hum Mol Genet. 1995 Oct;4(10):1875-81.

PMID:
8595410
15.

Epidermolytic hyperkeratosis.

Bale SJ, Compton JG, DiGiovanna JJ.

Semin Dermatol. 1993 Sep;12(3):202-9. Review.

PMID:
7692917
16.

A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease.

Batta K, Rugg EL, Wilson NJ, West N, Goodyear H, Lane EB, Gratian M, Dopping-Hepenstal P, Moss C, Eady RA.

Br J Dermatol. 2000 Sep;143(3):621-7.

PMID:
10971341
17.

Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression.

Virtanen M, Gedde-Dahl T Jr, Mörk NJ, Leigh I, Bowden PE, Vahlquist A.

Acta Derm Venereol. 2001 Jun-Jul;81(3):163-70.

PMID:
11558869
18.

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
19.

R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosis.

Haruna K, Suga Y, Mizuno Y, Hasegawa T, Kourou K, Matsuba S, Muramatsu S, Ikeda S.

J Dermatol. 2007 Aug;34(8):545-8.

PMID:
17683385
20.

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.

PMID:
1284546

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