Ma Z - Search Results

1

Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death.

Boone PM, Yuan B, Gu S, Ma Z, Gambin T, Gonzaga-Jauregui C, Jain M, Murdock TJ, White JJ, Jhangiani SN, Walker K, Wang Q, Muzny DM, Gibbs RA, Hejtmancik JF, Lupski JR, Posey JE, Lewis RA. Boone PM, et al. Among authors: ma z. Mol Genet Genomic Med. 2015 Nov 14;4(1):77-94. doi: 10.1002/mgg3.181. eCollection 2016 Jan. Mol Genet Genomic Med. 2015. PMID: 26788539 Free PMC article.

2

The G18V CRYGS mutation associated with human cataracts increases gammaS-crystallin sensitivity to thermal and chemical stress.

Ma Z, Piszczek G, Wingfield PT, Sergeev YV, Hejtmancik JF. Ma Z, et al. Biochemistry. 2009 Aug 4;48(30):7334-41. doi: 10.1021/bi900467a. Biochemistry. 2009. PMID: 19558189 Free PMC article.

3

A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa.

Li L, Nakaya N, Chavali VR, Ma Z, Jiao X, Sieving PA, Riazuddin S, Tomarev SI, Ayyagari R, Riazuddin SA, Hejtmancik JF. Li L, et al. Among authors: ma z. Am J Hum Genet. 2010 Sep 10;87(3):400-9. doi: 10.1016/j.ajhg.2010.08.003. Am J Hum Genet. 2010. PMID: 20797688 Free PMC article.

4

Overexpression of human γC-crystallin 5 bp duplication disrupts lens morphology in transgenic mice.

Ma Z, Yao W, Theendakara V, Chan CC, Wawrousek E, Hejtmancik JF. Ma Z, et al. Invest Ophthalmol Vis Sci. 2011 Jul 23;52(8):5369-75. doi: 10.1167/iovs.11-7168. Invest Ophthalmol Vis Sci. 2011. PMID: 21436266 Free PMC article.

5

Mutations in FYCO1 cause autosomal-recessive congenital cataracts.

Chen J, Ma Z, Jiao X, Fariss R, Kantorow WL, Kantorow M, Pras E, Frydman M, Pras E, Riazuddin S, Riazuddin SA, Hejtmancik JF. Chen J, et al. Among authors: ma z. Am J Hum Genet. 2011 Jun 10;88(6):827-838. doi: 10.1016/j.ajhg.2011.05.008. Am J Hum Genet. 2011. PMID: 21636066 Free PMC article.

6

Differentiation state-specific mitochondrial dynamic regulatory networks are revealed by global transcriptional analysis of the developing chicken lens.

Chauss D, Basu S, Rajakaruna S, Ma Z, Gau V, Anastas S, Brennan LA, Hejtmancik JF, Menko AS, Kantorow M. Chauss D, et al. Among authors: ma z. G3 (Bethesda). 2014 Jun 13;4(8):1515-27. doi: 10.1534/g3.114.012120. G3 (Bethesda). 2014. PMID: 24928582 Free PMC article.

7

Human βA3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cells.

Ma Z, Yao W, Chan CC, Kannabiran C, Wawrousek E, Hejtmancik JF. Ma Z, et al. Biochim Biophys Acta. 2016 Jun;1862(6):1214-27. doi: 10.1016/j.bbadis.2016.02.003. Epub 2016 Feb 4. Biochim Biophys Acta. 2016. PMID: 26851658 Free PMC article.

8

Polymorphism rs7278468 is associated with Age-related cataract through decreasing transcriptional activity of the CRYAA promoter.

Ma X, Jiao X, Ma Z, Hejtmancik JF. Ma X, et al. Among authors: ma z. Sci Rep. 2016 Mar 17;6:23206. doi: 10.1038/srep23206. Sci Rep. 2016. PMID: 26984531 Free PMC article.

9

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.

Li L, Chen Y, Jiao X, Jin C, Jiang D, Tanwar M, Ma Z, Huang L, Ma X, Sun W, Chen J, Ma Y, M'hamdi O, Govindarajan G, Cabrera PE, Li J, Gupta N, Naeem MA, Khan SN, Riazuddin S, Akram J, Ayyagari R, Sieving PA, Riazuddin SA, Hejtmancik JF. Li L, et al. Among authors: ma z, ma x, ma y. Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):2218-2238. doi: 10.1167/iovs.17-21424. Invest Ophthalmol Vis Sci. 2017. PMID: 28418496 Free PMC article.

10

Functional non-coding polymorphism in an EPHA2 promoter PAX2 binding site modifies expression and alters the MAPK and AKT pathways.

Ma X, Ma Z, Jiao X, Hejtmancik JF. Ma X, et al. Among authors: ma z. Sci Rep. 2017 Aug 30;7(1):9992. doi: 10.1038/s41598-017-10117-3. Sci Rep. 2017. PMID: 28855599 Free PMC article.

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