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Homozygous nonsense variants of KCTD19 cause male infertility in humans and mice.

作者信息

Zhang Yan, Huang Xuzhao, Xu Qiaoqiao, Yu Mei, Shu Mingxue, Shan Shiling, Fan Yun, Li Shiqi, Tao Chengzhe, Zhao Ying, Ji Juan, Qin Yufeng, Lu Chuncheng, Xia Yankai, Zhang Feng

机构信息

State Key Laboratory of Reproductive Medicine, Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, Jiangsu 211166, China; Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing, Jiangsu 211166, China.

The Affiliated Obstetrics and Gynecology Hospital with Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, Jiangsu 210029, China.

出版信息

J Genet Genomics. 2023 Aug;50(8):615-619. doi: 10.1016/j.jgg.2023.05.008. Epub 2023 May 29.

DOI:10.1016/j.jgg.2023.05.008
PMID:37257643
Abstract
摘要

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Homozygous nonsense variants of KCTD19 cause male infertility in humans and mice.KCTD19的纯合无义变异导致人类和小鼠的男性不育。
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2
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引用本文的文献

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J Hum Genet. 2025 May 23. doi: 10.1038/s10038-025-01350-0.
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Perfluorohexane Sulfonic Acid Disrupts the Immune Microenvironment for Spermatogenesis by Damaging the Structure of the Blood-Testis Barrier in Mice.全氟己烷磺酸通过破坏小鼠血睾屏障结构扰乱精子发生的免疫微环境。
Adv Sci (Weinh). 2025 Mar;12(10):e2409383. doi: 10.1002/advs.202409383. Epub 2025 Jan 17.
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Compound heterozygous variants in a man with isolated nonobstructive azoospermia.
一名患有孤立性非梗阻性无精子症男性中的复合杂合变异
Reprod Med Biol. 2024 Sep 24;23(1):e12608. doi: 10.1002/rmb2.12608. eCollection 2024 Jan-Dec.
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How exome sequencing improves the diagnostics and management of men with non-syndromic infertility.外显子组测序如何改善非综合征性不育男性的诊断和管理。
Andrology. 2024 Aug 9. doi: 10.1111/andr.13728.
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Dnali1 is required for sperm motility and male fertility in mice.Dnali1对小鼠精子活力和雄性生育能力至关重要。
Basic Clin Androl. 2023 Nov 23;33(1):32. doi: 10.1186/s12610-023-00205-y.