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Biallelic mutations in RNA-binding protein ADAD2 cause spermiogenic failure and non-obstructive azoospermia in humans.
Shi B, Shah W, Liu L, Gong C, Zhou J, Abbas T, Ma H, Zhang H, Yang M, Zhang Y, Ullah N, Mahammad Z, Khan M, Murtaza G, Ali A, Khan R, Sha J, Yuan Y, Shi Q. Shi B, et al. Among authors: khan r. Hum Reprod Open. 2023 May 18;2023(3):hoad022. doi: 10.1093/hropen/hoad022. eCollection 2023. Hum Reprod Open. 2023. PMID: 37325547 Free PMC article.
Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans.
Fan S, Jiao Y, Khan R, Jiang X, Javed AR, Ali A, Zhang H, Zhou J, Naeem M, Murtaza G, Li Y, Yang G, Zaman Q, Zubair M, Guan H, Zhang X, Ma H, Jiang H, Ali H, Dil S, Shah W, Ahmad N, Zhang Y, Shi Q. Fan S, et al. Among authors: khan r. Am J Hum Genet. 2021 Feb 4;108(2):324-336. doi: 10.1016/j.ajhg.2021.01.010. Epub 2021 Jan 27. Am J Hum Genet. 2021. PMID: 33508233 Free PMC article.
Gene therapy with AAV9-SGPL1 in an animal model of lung fibrosis.
Bhattacharyya A, Khan R, Lee JY, Tassew G, Oskouian B, Allende ML, Proia RL, Yin X, Ortega JG, Bhattacharya M, Saba JD. Bhattacharyya A, et al. Among authors: khan r. J Pathol. 2024 May;263(1):22-31. doi: 10.1002/path.6256. Epub 2024 Feb 9. J Pathol. 2024. PMID: 38332723
A homozygous missense variant in DND1 causes non-obstructive azoospermia in humans.
Xie X, Khan M, Zubair M, Khan A, Khan R, Zhou J, Zhang Y, Said M, Khan SA, Zaman Q, Murtaza G, Khan MA, Liu W, Hou X, Zhang H, Xu B, Jiang X, Bai S, Shi Q. Xie X, et al. Among authors: khan r. Front Genet. 2022 Sep 30;13:1017302. doi: 10.3389/fgene.2022.1017302. eCollection 2022. Front Genet. 2022. PMID: 36246621 Free PMC article.
55 results