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Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.
Li L, Jiao X, D'Atri I, Ono F, Nelson R, Chan CC, Nakaya N, Ma Z, Ma Y, Cai X, Zhang L, Lin S, Hameed A, Chioza BA, Hardy H, Arno G, Hull S, Khan MI, Fasham J, Harlalka GV, Michaelides M, Moore AT, Coban Akdemir ZH, Jhangiani S, Lupski JR, Cremers FPM, Qamar R, Salman A, Chilton J, Self J, Ayyagari R, Kabir F, Naeem MA, Ali M, Akram J, Sieving PA, Riazuddin S, Baple EL, Riazuddin SA, Crosby AH, Hejtmancik JF. Li L, et al. Among authors: naeem ma, ma z, ma y. PLoS Genet. 2018 Aug 29;14(8):e1007504. doi: 10.1371/journal.pgen.1007504. eCollection 2018 Aug. PLoS Genet. 2018. PMID: 30157172 Free PMC article.
A mutation in IFT43 causes non-syndromic recessive retinal degeneration.
Biswas P, Duncan JL, Ali M, Matsui H, Naeem MA, Raghavendra PB, Frazer KA, Arts HH, Riazuddin S, Akram J, Hejtmancik JF, Riazuddin SA, Ayyagari R. Biswas P, et al. Among authors: naeem ma. Hum Mol Genet. 2017 Dec 1;26(23):4741-4751. doi: 10.1093/hmg/ddx356. Hum Mol Genet. 2017. PMID: 28973684 Free PMC article.
CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000-5,000 Years Ago.
Ma Y, Wang X, Shoshany N, Jiao X, Lee A, Ku G, Baple EL, Fasham J, Nadeem R, Naeem MA, Riazuddin S, Riazuddin SA, Crosby AH, Hejtmancik JF. Ma Y, et al. Among authors: naeem ma. Front Genet. 2022 Mar 22;13:804924. doi: 10.3389/fgene.2022.804924. eCollection 2022. Front Genet. 2022. PMID: 35391798 Free PMC article.
GNAT1 associated with autosomal recessive congenital stationary night blindness.
Naeem MA, Chavali VR, Ali S, Iqbal M, Riazuddin S, Khan SN, Husnain T, Sieving PA, Ayyagari R, Riazuddin S, Hejtmancik JF, Riazuddin SA. Naeem MA, et al. Invest Ophthalmol Vis Sci. 2012 Mar 13;53(3):1353-61. doi: 10.1167/iovs.11-8026. Print 2012 Mar. Invest Ophthalmol Vis Sci. 2012. PMID: 22190596 Free PMC article.
A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.
Biswas P, Chavali VR, Agnello G, Stone E, Chakarova C, Duncan JL, Kannabiran C, Homsher M, Bhattacharya SS, Naeem MA, Kimchi A, Sharon D, Iwata T, Riazuddin S, Reddy GB, Hejtmancik JF, Georgiou G, Riazuddin SA, Ayyagari R. Biswas P, et al. Among authors: naeem ma. Hum Mol Genet. 2016 Jun 15;25(12):2483-2497. doi: 10.1093/hmg/ddw113. Epub 2016 Apr 22. Hum Mol Genet. 2016. PMID: 27106100 Free PMC article.
229 results