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Items: 1 to 20 of 34

1.

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses.

Coulombe PA, Hutton ME, Letai A, Hebert A, Paller AS, Fuchs E.

Cell. 1991 Sep 20;66(6):1301-11.

PMID:
1717157
2.

Epidermolysis bullosa simplex.

Coulombe PA, Fuchs E.

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

PMID:
7692916
3.

The molecular genetics of keratin disorders.

Smith F.

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

PMID:
12688839
4.

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
5.

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
6.

Human keratin diseases: hereditary fragility of specific epithelial tissues.

Corden LD, McLean WH.

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

PMID:
9028791
7.

Epidermolysis bullosa simplex with muscular dystrophy.

Chiavérini C, Charlesworth A, Meneguzzi G, Lacour JP, Ortonne JP.

Dermatol Clin. 2010 Apr;28(2):245-55, viii. doi: 10.1016/j.det.2010.01.001. Review.

PMID:
20447487
8.

Epidermolysis bullosa simplex.

Sprecher E.

Dermatol Clin. 2010 Jan;28(1):23-32. doi: 10.1016/j.det.2009.10.003. Review.

PMID:
19945613
9.

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. Epub 2012 Jan 26. Review.

10.

Keratins and the skin.

Fuchs E.

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

PMID:
8689554
11.

Molecular genetics of epidermolysis bullosa.

Epstein EH Jr.

Science. 1992 May 8;256(5058):799-804. Review.

PMID:
1375393
12.

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. Epub 2010 Dec 19. Review.

13.

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.

14.

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. Epub 2009 Jul 1. Review.

15.

Keratin transgenic and knockout mice: functional analysis and validation of disease-causing mutations.

Vijayaraj P, Söhl G, Magin TM.

Methods Mol Biol. 2007;360:203-51. Review.

PMID:
17172732
16.

Of mice and men: genetic skin diseases of keratin.

Fuchs E, Coulombe PA.

Cell. 1992 Jun 12;69(6):899-902. Review. No abstract available.

PMID:
1376637
17.

Genetic skin disorders of keratin.

Fuchs E.

J Invest Dermatol. 1992 Dec;99(6):671-4. Review. No abstract available.

18.

The cytoskeleton and disease: genetic disorders of intermediate filaments.

Fuchs E.

Annu Rev Genet. 1996;30:197-231. Review.

PMID:
8982454
19.

Plectin gene defects lead to various forms of epidermolysis bullosa simplex.

Rezniczek GA, Walko G, Wiche G.

Dermatol Clin. 2010 Jan;28(1):33-41. doi: 10.1016/j.det.2009.10.004. Review. Erratum in: Dermatol Clin. 2010 Apr;28(2):439-41.

PMID:
19945614
20.

Gene therapy for autosomal dominant disorders of keratin.

Lewin AS, Glazer PM, Milstone LM.

J Investig Dermatol Symp Proc. 2005 Oct;10(1):47-61. Review.

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