Work

Loss-of-function variants in human C12orf40 cause male infertility by blocking meiotic progression

Year: 2023

Type: article

Abstract: Non-obstructive azoospermia (NOA) stands for the most severe form of male infertility affecting ~1% male population 1 . Clinically, the connections between various gene variants and sterility have been widely observed in NOA patients 2 , 3 . However, it remains poorly understood which of them are authentic disease-causing genes and how these gene mutations lead to male infertility.

Source: Cell Discovery

DOI: 10.1038/s41421-023-00580-w

Authors: Chaofeng Tu, Junfei Wen, Weili Wang, Qifan Zhu, Ying Chen, Jianglu Cheng, Zeye Li, Lanlan Meng, Yong Li, Wenbin He, Chen Tan, Chunbo Xie, Shao-Mei Fu, Juan Du, Guangxiu Lu, Ge Lin, Lan-Tao Gou, Yue-Qiu Tan

Institutions: Central South University, Reproductive & Genetic Hospital CITIC-Xiangya, Chinese Academy of Sciences, Center for Excellence in Molecular Cell Science, University of Chinese Academy of Sciences, State Key Laboratory of Molecular Biology, Hunan Normal University, Chongqing Medical University, Shanghai Medical College of Fudan University, Fudan University, Obstetrics and Gynecology Hospital of Fudan University

Language: English

Topic: Sperm and Testicular Function

Subfield: Reproductive Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,390

Funders: National Natural Science Foundation of China, Chinese Academy of Sciences, China Postdoctoral Science Foundation, Science and Technology Commission of Shanghai Municipality, Natural Science Foundation of Hunan Province

Awards: G1688500529, G2896521020, G2970052280, G3590113247, G4755672613, G4796009726, G5090501690, G5368718105, G6598615099, G7498803647

OpenAlex ID: W4386020916

FWCI: 1.919

Cites: 10

Cited by: 8

Related to: 10