PMC Articles for MedGen (Select 868306) - PMC

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Items: 5

Select item 93692331.

LRRC46 Accumulates at the Midpiece of Sperm Flagella and Is Essential for Spermiogenesis and Male Fertility in Mouse

Yingying Yin, Wenyu Mu, Xiaochen Yu, Ziqi Wang, Ke Xu, Xinyue Wu, Yuling Cai, Mingyu Zhang, Gang Lu, Wai-Yee Chan, Jinlong Ma, Tao Huang, Hongbin Liu

Int J Mol Sci. 2022 Aug; 23(15): 8525. Published online 2022 Jul 31. doi: 10.3390/ijms23158525

PMCID:: PMC9369233

Abstract Article PDF–10M

Select item 92266892.

A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms

Muhammad Zubair, Ranjha Khan, Ao Ma, Uzma Hameed, Mazhar Khan, Tanveer Abbas, Riaz Ahmad, Jian-Teng Zhou, Wasim Shah, Ansar Hussain, Nisar Ahmed, Ihsan Khan, Khalid Khan, Yuan-Wei Zhang, Huan Zhang, Li-Min Wu, Qing-Hua Shi

Asian J Androl. 2022 May-Jun; 24(3): 255–259. Published online 2022 Mar 4. doi: 10.4103/aja2021122

PMCID:: PMC9226689

Abstract Article PDF–1.9M

Select item 74770153.

Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice

Xiaojin He, Chunyu Liu, Xiaoyu Yang, Mingrong Lv, Xiaoqing Ni, Qiang Li, Huiru Cheng, Wangjie Liu, Shixiong Tian, Huan Wu, Yang Gao, Chenyu Yang, Qing Tan, Jiangshan Cong, Dongdong Tang, Jingjing Zhang, Bing Song, Yading Zhong, Hang Li, Weiwei Zhi, Xiaohong Mao, Feifei Fu, Lei Ge, Qunshan Shen, Manyu Zhang, Hexige Saiyin, Li Jin, Yuping Xu, Ping Zhou, Zhaolian Wei, Feng Zhang, Yunxia Cao

Am J Hum Genet. 2020 Sep 3; 107(3): 514–526. Published online 2020 Aug 12. doi: 10.1016/j.ajhg.2020.07.010