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Items: 15

1.

Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex.

Letai A, Coulombe PA, McCormick MB, Yu QC, Hutton E, Fuchs E.

Proc Natl Acad Sci U S A. 1993 Apr 15;90(8):3197-201.

2.

Human keratin diseases: hereditary fragility of specific epithelial tissues.

Corden LD, McLean WH.

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

PMID:
9028791
3.

Epidermolysis bullosa simplex.

Coulombe PA, Fuchs E.

Semin Dermatol. 1993 Sep;12(3):173-90. Review.

PMID:
7692916
4.

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. Review.

PMID:
7504434
5.

The molecular genetics of keratin disorders.

Smith F.

Am J Clin Dermatol. 2003;4(5):347-64. Review.

PMID:
12688839
6.

Keratin gene mutations in disorders of human skin and its appendages.

Chamcheu JC, Siddiqui IA, Syed DN, Adhami VM, Liovic M, Mukhtar H.

Arch Biochem Biophys. 2011 Apr 15;508(2):123-37. doi: 10.1016/j.abb.2010.12.019. Review.

7.

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. Review.

PMID:
12655565
8.

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. Review.

PMID:
7525738
9.

Keratins and the skin.

Fuchs E.

Annu Rev Cell Dev Biol. 1995;11:123-53. Review.

PMID:
8689554
10.

Defining keratin protein function in skin epithelia: epidermolysis bullosa simplex and its aftermath.

Coulombe PA, Lee CH.

J Invest Dermatol. 2012 Mar;132(3 Pt 2):763-75. doi: 10.1038/jid.2011.450. Review.

11.

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. Review.

PMID:
10098704
12.

The molecular basis for inherited bullous diseases.

Korge BP, Krieg T.

J Mol Med (Berl). 1996 Feb;74(2):59-70. Review.

PMID:
8820401
13.

Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility.

Coulombe PA, Kerns ML, Fuchs E.

J Clin Invest. 2009 Jul;119(7):1784-93. doi: 10.1172/JCI38177. Review.

14.
15.

Progress towards genetic and pharmacological therapies for keratin genodermatoses: current perspective and future promise.

Chamcheu JC, Wood GS, Siddiqui IA, Syed DN, Adhami VM, Teng JM, Mukhtar H.

Exp Dermatol. 2012 Jul;21(7):481-9. doi: 10.1111/j.1600-0625.2012.01534.x. Review.

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