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Pathogenic TDRD12 variants cause defective piRNA pathway and male infertility in humans and mice

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摘要 Non-obstructive azoospermia(NOA),the lack of sperm in the ejaculate due to failure of spermatogenesis,can result from a variety of diverse factors,with genetic factors accounting for~30%of NOA cases,including chromosomal aberrations,Y-chromosome microdeletions,and monogenic variants(Tang et al.,2022).More than 2000genes are known to participate in spermatogenesis,and>400 genes specifically linked to azoospermia have been identified through studies in mouse models(Krausz and Riera-Escamilla,2018).However,relatively few genes associated with azoospermia in mice have been verified in humans.
出处 《Journal of Genetics and Genomics》 SCIE CAS CSCD 2024年第11期1322-1326,共5页 遗传学报(英文版)
基金 supported by the National Key R&D Program of China(2023YFC2705503) Major Innovation Projects in Shandong Province(2021ZDSYS16) the National Natural Science Foundation of China(82071699 and 82371619) CAMS Innovation Fund for Medical Sciences(2021-I2M-5-001) the Basic Science Center Program of NSFC(31988101) Science Foundation for Distinguished Young Scholars of Shandong(ZR2021JQ27) Taishan Scholars Program for Young Experts of Shandong Province(tsqn202103192)。
关键词 al. VARIANTS TDR
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