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Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice.
Ma A, Zhou J, Ali H, Abbas T, Ali I, Muhammad Z, Dil S, Chen J, Huang X, Ma H, Zhao D, Zhang B, Zhang Y, Shah W, Shah B, Murtaza G, Iqbal F, Khan MA, Khan A, Li Q, Xu B, Wu L, Zhang H, Shi Q. Ma A, et al. Among authors: muhammad z. JCI Insight. 2023 Feb 8;8(3):e166869. doi: 10.1172/jci.insight.166869. JCI Insight. 2023. PMID: 36752199 Free PMC article.
A homozygous KASH5 frameshift mutation causes diminished ovarian reserve, recurrent miscarriage, and non-obstructive azoospermia in humans.
Hou X, Zeb A, Dil S, Zhou J, Zhang H, Shi B, Muhammad Z, Khan I, Zaman Q, Shah WA, Jiang X, Wu L, Ma H, Shi Q. Hou X, et al. Among authors: muhammad z. Front Endocrinol (Lausanne). 2023 Feb 14;14:1128362. doi: 10.3389/fendo.2023.1128362. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 36864840 Free PMC article.
158 results