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CALR3 defects disrupt sperm-zona pellucida binding in humans: new insights into male factor fertilization failure and relevant clinical therapeutic approaches.

Human reproduction (Oxford, England) - 1 Nov 2024

Gao Yang, Xue Rufeng, Guo Rui, Yang Fan, Sha Xuan, Li Yuqian, Hua Rong, Li Guotong, Shen Qunshan, Li Kuokuo, Liu Wenwen, Xu Yuping, Zhou Ping, Wei Zhaolian, Zhang Zhiguo, Cao Yunxia, He Xiaojin, Wu Huan

Abstract excerpt

STUDY QUESTION: Do biallelic deleterious variants of Calreticulin 3 (CALR3) cause fertilization failure (FF), resulting in male infertility in humans? SUMMARY ANSWER: Biallelic mutations in CALR3 were identified in two infertile men from unrelated families and were shown to cause FF associated with failed sperm-zona pellucida (ZP) binding. WHAT IS KNOWN ALREADY: In male mice, the Calr3-knockout has been reported...

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PMID: 39237102
DOI: 10.1093/humrep/deae205

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