Litcius/Paper detail

Homozygous deleterious variants in MYCBPAP induce asthenoteratozoospermia involving abnormal acrosome biogenesis, manchette structure and sperm tail assembly in humans and mice

Yiling Zhou, Chaofeng Tu, Charles Coutton, Jianan Tang, Shixiong Tian, Shuyan Tang, Guillaume Martinez, Dapeng Zhou, Célia Tebbakh, Jiaxiong Wang, Raoudha Zouari, Xuehai Zhou, Sélima Fourati Ben Mustapha, Xuemei Wang, Bangguo Wu, Xinyan Geng, Shuang Liu, Jin Li, Huijuan Shi, Yue‐Qiu Tan, Pierre F. Ray, Lingbo Wang, Xiaoyu Yang, Feng Zhang, Chunyu Liu

2024Science China Life Sciences9 citationsDOIOpen Access PDF

Topics & Concepts

BiologyExome sequencingGeneticsMale infertilityNonsenseCompound heterozygosityExomeInfertilitySpermAlleleGenePhenotypePregnancySperm and Testicular FunctionReproductive Biology and FertilityGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities