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Items: 1 to 20 of 219

1.

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.

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.

The molecular genetics of keratin disorders.

Smith F.

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

PMID:
12688839
4.

The keratins and their disorders.

Rugg EL, Leigh IM.

Am J Med Genet C Semin Med Genet. 2004 Nov 15;131C(1):4-11. Review.

PMID:
15452838
5.

The molecular basis for inherited bullous diseases.

Korge BP, Krieg T.

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

PMID:
8820401
6.

Keratins and skin disorders.

Lane EB, McLean WH.

J Pathol. 2004 Nov;204(4):355-66. Review.

PMID:
15495218
7.

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.

8.

Diseases of epidermal keratins and their linker proteins.

Uitto J, Richard G, McGrath JA.

Exp Cell Res. 2007 Jun 10;313(10):1995-2009. Epub 2007 Apr 24. Review.

9.

How do keratinizing disorders and blistering disorders overlap?

Hamada T, Tsuruta D, Fukuda S, Ishii N, Teye K, Numata S, Dainichi T, Karashima T, Ohata C, Furumura M, Hashimoto T.

Exp Dermatol. 2013 Feb;22(2):83-7. doi: 10.1111/exd.12021. Epub 2012 Oct 8. Review.

10.

Lessons from disorders of epidermal differentiation-associated keratins.

Ishida-Yamamoto A, Takahashi H, Iizuka H.

Histol Histopathol. 2002 Jan;17(1):331-8. Review.

PMID:
11813882
11.

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.

12.
13.

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
14.

Generation and characterization of epidermolysis bullosa simplex cell lines: scratch assays show faster migration with disruptive keratin mutations.

Morley SM, D'Alessandro M, Sexton C, Rugg EL, Navsaria H, Shemanko CS, Huber M, Hohl D, Heagerty AI, Leigh IM, Lane EB.

Br J Dermatol. 2003 Jul;149(1):46-58.

PMID:
12890194
15.

Genetic disorders of keratin: are scarring alopecias a sub-set?

Rothnagel JA, Longley MA, Holder RA, Bundman DS, Seki T, Bickenbach JR, Roop DR.

J Dermatol Sci. 1994 Jul;7 Suppl:S164-9. Review.

PMID:
7528048
16.
17.

Insights into genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database.

McLean WH, Smith FJ, Cassidy AJ.

J Investig Dermatol Symp Proc. 2005 Oct;10(1):31-6. Review.

18.

A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.

Smith FJ, Jonkman MF, van Goor H, Coleman CM, Covello SP, Uitto J, McLean WH.

Hum Mol Genet. 1998 Jul;7(7):1143-8.

19.

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
20.

Keratins and skin disorders.

Rao KS, Babu KK, Gupta PD.

Cell Biol Int. 1996 Apr;20(4):261-74. Review.

PMID:
8664850
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