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Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene.
Bassuk AG, Muthuswamy LB, Boland R, Smith TL, Hulstrand AM, Northrup H, Hakeman M, Dierdorff JM, Yung CK, Long A, Brouillette RB, Au KS, Gurnett C, Houston DW, Cornell RA, Manak JR. Bassuk AG, et al. Among authors: manak jr. Hum Mol Genet. 2013 Mar 15;22(6):1097-111. doi: 10.1093/hmg/dds515. Epub 2012 Dec 7. Hum Mol Genet. 2013. PMID: 23223018 Free PMC article.
Mutations in prickle orthologs cause seizures in flies, mice, and humans.
Tao H, Manak JR, Sowers L, Mei X, Kiyonari H, Abe T, Dahdaleh NS, Yang T, Wu S, Chen S, Fox MH, Gurnett C, Montine T, Bird T, Shaffer LG, Rosenfeld JA, McConnell J, Madan-Khetarpal S, Berry-Kravis E, Griesbach H, Saneto RP, Scott MP, Antic D, Reed J, Boland R, Ehaideb SN, El-Shanti H, Mahajan VB, Ferguson PJ, Axelrod JD, Lehesjoki AE, Fritzsch B, Slusarski DC, Wemmie J, Ueno N, Bassuk AG. Tao H, et al. Among authors: manak jr. Am J Hum Genet. 2011 Feb 11;88(2):138-49. doi: 10.1016/j.ajhg.2010.12.012. Epub 2011 Feb 3. Am J Hum Genet. 2011. PMID: 21276947 Free PMC article.
A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans.
Brophy PD, Rasmussen M, Parida M, Bonde G, Darbro BW, Hong X, Clarke JC, Peterson KA, Denegre J, Schneider M, Sussman CR, Sunde L, Lildballe DL, Hertz JM, Cornell RA, Murray SA, Manak JR. Brophy PD, et al. Among authors: manak jr. Genetics. 2017 Sep;207(1):215-228. doi: 10.1534/genetics.117.1125. Epub 2017 Jul 24. Genetics. 2017. PMID: 28739660 Free PMC article.
Interferon regulatory factor 6 promotes differentiation of the periderm by activating expression of Grainyhead-like 3.
de la Garza G, Schleiffarth JR, Dunnwald M, Mankad A, Weirather JL, Bonde G, Butcher S, Mansour TA, Kousa YA, Fukazawa CF, Houston DW, Manak JR, Schutte BC, Wagner DS, Cornell RA. de la Garza G, et al. Among authors: manak jr. J Invest Dermatol. 2013 Jan;133(1):68-77. doi: 10.1038/jid.2012.269. Epub 2012 Aug 30. J Invest Dermatol. 2013. PMID: 22931925 Free PMC article.
68 results