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Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
Riazuddin S, Hussain M, Razzaq A, Iqbal Z, Shahzad M, Polla DL, Song Y, van Beusekom E, Khan AA, Tomas-Roca L, Rashid M, Zahoor MY, Wissink-Lindhout WM, Basra MAR, Ansar M, Agha Z, van Heeswijk K, Rasheed F, Van de Vorst M, Veltman JA, Gilissen C, Akram J, Kleefstra T, Assir MZ; UK10K; Grozeva D, Carss K, Raymond FL, O'Connor TD, Riazuddin SA, Khan SN, Ahmed ZM, de Brouwer APM, van Bokhoven H, Riazuddin S. Riazuddin S, et al. Among authors: riazuddin sa. Mol Psychiatry. 2017 Nov;22(11):1604-1614. doi: 10.1038/mp.2016.109. Epub 2016 Jul 26. Mol Psychiatry. 2017. PMID: 27457812 Free PMC article.
Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Thomas HB, Demain LAM, Cabrera-Orefice A, Schrauwen I, Shamseldin HE, Rea A, Bharadwaj T, Smith TB, Oláhová M, Thompson K, He L, Kaur N, Shukla A, Abukhalid M, Ansar M, Rehman S, Riazuddin S, Abdulwahab F, Smith JM, Stark Z, Carrera S, Yue WW, Munro KJ, Alkuraya FS, Jamieson P, Ahmed ZM, Leal SM, Taylor RW, Wittig I, O'Keefe RT, Newman WG. Thomas HB, et al. Among authors: riazuddin s. medRxiv [Preprint]. 2024 Oct 11:2024.10.10.24315152. doi: 10.1101/2024.10.10.24315152. medRxiv. 2024. PMID: 39417135 Free PMC article. Preprint.
FYCO1 regulates autophagy and senescence via PAK1/p21 in cataract.
Chen S, Zhao W, Chen R, Sheng F, Gu Y, Hao S, Wu D, Lu B, Chen L, Wu Y, Xu Y, Han Y, Zhou L, Riazuddin SA, Fu Q, Yao K. Chen S, et al. Among authors: riazuddin sa. Arch Biochem Biophys. 2024 Nov;761:110180. doi: 10.1016/j.abb.2024.110180. Epub 2024 Oct 11. Arch Biochem Biophys. 2024. PMID: 39395618
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.
Malka S, Biswas P, Berry AM, Sangermano R, Ullah M, Lin S, D'Antonio M, Jestin A, Jiao X, Quinodoz M, Sullivan L, Gardner JC, Place EM, Michaelides M, Kaminska K, Mahroo OA, Schiff E, Wright G, Cancellieri F, Vaclavik V, Santos C, Rehman AU, Mehrotra S, Azhar Baig HM, Iqbal M, Ansar M, Santos LC, Sousa AB, Tran VH, Matsui H, Bhatia A, Naeem MA, Akram SJ, Akram J, Riazuddin S, Ayuso C, Pierce EA, Hardcastle AJ, Riazuddin SA, Frazer KA, Hejtmancik JF, Rivolta C, Bujakowska KM, Arno G, Webster AR, Ayyagari R. Malka S, et al. Among authors: riazuddin sa, riazuddin s. Am J Hum Genet. 2024 Sep 5;111(9):2012-2030. doi: 10.1016/j.ajhg.2024.07.020. Epub 2024 Aug 26. Am J Hum Genet. 2024. PMID: 39191256 Free PMC article.
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly.
Ghaffar A, Akhter T, Strømme P, Misceo D, Khan A, Frengen E, Umair M, Isidor B, Cogné B, Khan AA, Bruel AL, Sorlin A, Kuentz P, Chiaverini C, Innes AM, Zech M, Baláž M, Havrankova P, Jech R, Ahmed ZM, Riazuddin S, Riazuddin S. Ghaffar A, et al. Among authors: riazuddin s. Commun Biol. 2024 Jul 8;7(1):831. doi: 10.1038/s42003-024-06466-1. Commun Biol. 2024. PMID: 38977784 Free PMC article.
397 results