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Results: 8

1.

Monilethrix with variable expressivity.

Bindurani S, Rajiv S.

Int J Trichology. 2013 Jan;5(1):53-5. doi: 10.4103/0974-7753.114703.

PMID:
23960403
[PubMed]
Free PMC Article
2.

To the Root of the Curl: A Signature of a Recent Selective Sweep Identifies a Mutation That Defines the Cornish Rex Cat Breed.

Gandolfi B, Alhaddad H, Affolter VK, Brockman J, Haggstrom J, Joslin SE, Koehne AL, Mullikin JC, Outerbridge CA, Warren WC, Lyons LA.

PLoS One. 2013 Jun 27;8(6):e67105. Print 2013.

PMID:
23826204
[PubMed - as supplied by publisher]
Free PMC Article
3.

A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix.

Wu J, Lin Y, Xu W, Li Z, Fan W.

J Biomed Res. 2011 Jan;25(1):49-55. doi: 10.1016/S1674-8301(11)60006-7.

PMID:
23554671
[PubMed]
Free PMC Article
4.

Frizzled6 deficiency disrupts the differentiation process of nail development.

Cui CY, Klar J, Georgii-Heming P, Fröjmark AS, Baig SM, Schlessinger D, Dahl N.

J Invest Dermatol. 2013 Aug;133(8):1990-7. doi: 10.1038/jid.2013.84. Epub 2013 Feb 25.

PMID:
23439395
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Monilethrix: A New Family with the Novel Mutation in KRT81 Gene.

Ferrando J, Galve J, Torres-Puente M, Santillán S, Nogués S, Grimalt R.

Int J Trichology. 2012 Jan;4(1):53-5. doi: 10.4103/0974-7753.96105. No abstract available.

PMID:
22628999
[PubMed]
Free PMC Article
6.

PERP regulates enamel formation via effects on cell-cell adhesion and gene expression.

Jheon AH, Mostowfi P, Snead ML, Ihrie RA, Sone E, Pramparo T, Attardi LD, Klein OD.

J Cell Sci. 2011 Mar 1;124(Pt 5):745-54. doi: 10.1242/jcs.078071. Epub 2011 Feb 1.

PMID:
21285247
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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.

PMID:
21176769
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Disorders of keratinisation: from rare to common genetic diseases of skin and other epithelial tissues.

McLean WH, Irvine AD.

Ulster Med J. 2007 May;76(2):72-82. Review. No abstract available.

PMID:
17476820
[PubMed - indexed for MEDLINE]
Free PMC Article

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