Shimomura Y - Search Results

1

Analysis of unique mutations in the LPAR6 gene identified in a Japanese family with autosomal recessive woolly hair/hypotrichosis: Establishment of a useful assay system for LPA6.

Hayashi R, Inoue A, Suga Y, Aoki J, Shimomura Y. Hayashi R, et al. Among authors: shimomura y. J Dermatol Sci. 2015 Jun;78(3):197-205. doi: 10.1016/j.jdermsci.2015.03.006. Epub 2015 Mar 18. J Dermatol Sci. 2015. PMID: 25828854

2

Gene expression of Sh3d19, a novel adaptor protein with five Src homology 3 domains, in anagen mouse hair follicles.

Shimomura Y, Aoki N, Ito K, Ito M. Shimomura Y, et al. J Dermatol Sci. 2003 Feb;31(1):43-51. doi: 10.1016/s0923-1811(02)00140-8. J Dermatol Sci. 2003. PMID: 12615363

3

Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis.

Shimomura Y, Sakamoto F, Kariya N, Matsunaga K, Ito M. Shimomura Y, et al. J Invest Dermatol. 2006 Jun;126(6):1281-5. doi: 10.1038/sj.jid.5700113. J Invest Dermatol. 2006. PMID: 16439973 Free article.

4

Mutations in the hairless gene underlie APL in three families of Pakistani origin.

Kraemer L, Wajid M, Shimomura Y, Christiano AM. Kraemer L, et al. Among authors: shimomura y. J Dermatol Sci. 2008 Apr;50(1):25-30. doi: 10.1016/j.jdermsci.2007.10.012. J Dermatol Sci. 2008. PMID: 18164595 Free PMC article.

5

Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene.

Shimomura Y, Garzon MC, Kristal L, Shapiro L, Christiano AM. Shimomura Y, et al. Exp Dermatol. 2009 Mar;18(3):218-21. doi: 10.1111/j.1600-0625.2008.00788.x. Epub 2008 Sep 18. Exp Dermatol. 2009. PMID: 18803659 Free PMC article.

6

Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis.

Shimomura Y, Ito M, Christiano AM. Shimomura Y, et al. J Dermatol Sci. 2009 Dec;56(3):205-7. doi: 10.1016/j.jdermsci.2009.08.005. Epub 2009 Nov 4. J Dermatol Sci. 2009. PMID: 19892526 Free PMC article. No abstract available.

7

A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient.

Kurban M, Ghosn S, Abbas O, Shimomura Y, Christiano A. Kurban M, et al. Among authors: shimomura y. J Dermatol Sci. 2010 Feb;57(2):132-4. doi: 10.1016/j.jdermsci.2009.10.015. Epub 2009 Nov 26. J Dermatol Sci. 2010. PMID: 19944572 No abstract available.

8

Congenital hair loss disorders: rare, but not too rare.

Shimomura Y. Shimomura Y. J Dermatol. 2012 Jan;39(1):3-10. doi: 10.1111/j.1346-8138.2011.01395.x. Epub 2011 Nov 2. J Dermatol. 2012. PMID: 22044263 Review.

9

Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis.

Kurban M, Wajid M, Shimomura Y, Christiano AM. Kurban M, et al. Among authors: shimomura y. J Eur Acad Dermatol Venereol. 2013 May;27(5):545-9. doi: 10.1111/j.1468-3083.2012.04472.x. Epub 2012 Mar 5. J Eur Acad Dermatol Venereol. 2013. PMID: 22385360 Free PMC article.

10

Characterization of the human hair keratin-associated protein 2 (KRTAP2) gene family.

Fujikawa H, Fujimoto A, Farooq M, Ito M, Shimomura Y. Fujikawa H, et al. Among authors: shimomura y. J Invest Dermatol. 2012 Jul;132(7):1806-13. doi: 10.1038/jid.2012.73. Epub 2012 Apr 12. J Invest Dermatol. 2012. PMID: 22495175 Free article.

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