Shapiro LS - Search Results

1

Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome.

Sanna-Cherchi S, Burgess KE, Nees SN, Caridi G, Weng PL, Dagnino M, Bodria M, Carrea A, Allegretta MA, Kim HR, Perry BJ, Gigante M, Clark LN, Kisselev S, Cusi D, Gesualdo L, Allegri L, Scolari F, D'Agati V, Shapiro LS, Pecoraro C, Palomero T, Ghiggeri GM, Gharavi AG. Sanna-Cherchi S, et al. Among authors: shapiro ls. Kidney Int. 2011 Aug;80(4):389-96. doi: 10.1038/ki.2011.148. Epub 2011 Jun 22. Kidney Int. 2011. PMID: 21697813 Free article.

2

Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.

Petukhova L, Sousa EC Jr, Martinez-Mir A, Vitebsky A, Dos Santos LG, Shapiro L, Haynes C, Gordon D, Shimomura Y, Christiano AM. Petukhova L, et al. Genomics. 2008 Nov;92(5):273-8. doi: 10.1016/j.ygeno.2008.06.009. Epub 2008 Sep 13. Genomics. 2008. PMID: 18692127 Free PMC article.

3

Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair.

Shimomura Y, Wajid M, Ishii Y, Shapiro L, Petukhova L, Gordon D, Christiano AM. Shimomura Y, et al. Nat Genet. 2008 Mar;40(3):335-9. doi: 10.1038/ng.100. Epub 2008 Feb 24. Nat Genet. 2008. PMID: 18297072

4

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.

5

Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis.

Shimomura Y, Wajid M, Petukhova L, Shapiro L, Christiano AM. Shimomura Y, et al. J Invest Dermatol. 2009 Mar;129(3):622-8. doi: 10.1038/jid.2008.290. Epub 2008 Oct 2. J Invest Dermatol. 2009. PMID: 18830268 Free article.

6

FGF5 is a crucial regulator of hair length in humans.

Higgins CA, Petukhova L, Harel S, Ho YY, Drill E, Shapiro L, Wajid M, Christiano AM. Higgins CA, et al. Proc Natl Acad Sci U S A. 2014 Jul 22;111(29):10648-53. doi: 10.1073/pnas.1402862111. Epub 2014 Jul 2. Proc Natl Acad Sci U S A. 2014. PMID: 24989505 Free PMC article.

7

Hairless is a histone H3K9 demethylase.

Liu L, Kim H, Casta A, Kobayashi Y, Shapiro LS, Christiano AM. Liu L, et al. Among authors: shapiro ls. FASEB J. 2014 Apr;28(4):1534-42. doi: 10.1096/fj.13-237677. Epub 2013 Dec 13. FASEB J. 2014. PMID: 24334705 Free PMC article.

8

Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions.

Schaffer JV, Bazzi H, Vitebsky A, Witkiewicz A, Kovich OI, Kamino H, Shapiro LS, Amin SP, Orlow SJ, Christiano AM. Schaffer JV, et al. Among authors: shapiro ls. J Invest Dermatol. 2006 Jun;126(6):1286-91. doi: 10.1038/sj.jid.5700237. J Invest Dermatol. 2006. PMID: 16543896 Free article.

9

P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle.

Shimomura Y, Wajid M, Shapiro L, Christiano AM. Shimomura Y, et al. Development. 2008 Feb;135(4):743-53. doi: 10.1242/dev.006718. Epub 2008 Jan 16. Development. 2008. PMID: 18199584

10

Motor neuron position and topographic order imposed by β- and γ-catenin activities.

Demireva EY, Shapiro LS, Jessell TM, Zampieri N. Demireva EY, et al. Among authors: shapiro ls. Cell. 2011 Oct 28;147(3):641-52. doi: 10.1016/j.cell.2011.09.037. Cell. 2011. PMID: 22036570 Free PMC article.

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