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Article

A homozygous loss-of-function mutation in FBXO43 causes human non-obstructive azoospermia.

Clinical genetics - 1 Jan 2022

Wu Huan, Zhang Xin, Shen Qunshan, Liu Yiyuan, Gao Yang, Wang Guanxiong, Lv Mingrong, Hua Rong, Xu Yuping, Zhou Ping, Wei Zhaolian, Tao Fangbiao, He Xiaojin, Cao Yunxia, Liu Mingxi

Abstract excerpt

Non-obstructive azoospermia (NOA) represents one of the most serious forms of male infertility caused by spermatogenic failure. Despite multiple genes found to be associated with human NOA, the genetic basis of this idiopathic disease remains largely unknown. FBXO43 is a direct inhibitor of the anaphase-promoting complex/cyclosome (APC/C) E3 ligase and crucially important in mouse spermatogenesis. In this study,...

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PMID: 34595750
DOI: 10.1111/cge.14069

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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