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

Multiple morphological abnormalities of the sperm flagella (MMAF) is a severe form of asthenoteratozoospermia. Although recent studies have revealed several MMAF-associated genes and demonstrated MMAF to be a genetically heterogeneous disease, at least one-third of the cases are still not well under...

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Veröffentlicht in:	American journal of human genetics 2020-09, Vol.107 (3), p.514-526
Hauptverfasser:	He, Xiaojin, Liu, Chunyu, Yang, Xiaoyu, Lv, Mingrong, Ni, Xiaoqing, Li, Qiang, Cheng, Huiru, Liu, Wangjie, Tian, Shixiong, Wu, Huan, Gao, Yang, Yang, Chenyu, Tan, Qing, Cong, Jiangshan, Tang, Dongdong, Zhang, Jingjing, Song, Bing, Zhong, Yading, Li, Hang, Zhi, Weiwei, Mao, Xiaohong, Fu, Feifei, Ge, Lei, Shen, Qunshan, Zhang, Manyu, Saiyin, Hexige, Jin, Li, Xu, Yuping, Zhou, Ping, Wei, Zhaolian, Zhang, Feng, Cao, Yunxia
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology Alleles Animals asthenoteratozoospermia Asthenozoospermia - genetics Asthenozoospermia - physiopathology Axoneme - genetics Axoneme - pathology Cell Cycle Proteins - genetics CFAP58 CRISPR-Cas Systems - genetics flagellum Homozygote Humans Infertility, Male - genetics Infertility, Male - pathology Intercellular Signaling Peptides and Proteins - genetics Loss of Function Mutation - genetics Loss of Heterozygosity - genetics Male Mice Mice, Knockout Microtubule Proteins - genetics Mitochondria - genetics mitochondrial sheath MMAF Sperm Tail - metabolism Sperm Tail - pathology Testis - metabolism Testis - pathology Whole Exome Sequencing
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