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Two mutations in TUBB8 cause developmental arrest in human oocytes and early embryos.

Reproductive biomedicine online - 1 Nov 2021

Cao Tianqi, Guo Jing, Xu Yan, Lin Xiufeng, Deng Weifen, Cheng Lizi, Zhao Huan, Jiang Shan, Gao Min, Huang Junjiu, Xu Yanwen

Abstract excerpt

RESEARCH QUESTION: How can the effect of genetic mutations that may cause primary female infertility be evaluated? DESIGN: Patients and their family members underwent whole-exome sequencing and Sanger sequencing to detect the infertility-causing gene and inheritance pattern. To study the function of mutant proteins in vitro, vectors containing wild-type or mutant TUBB8 cDNA were constructed for transient...

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Identifiers

PMID: 34509376
DOI: 10.1016/j.rbmo.2021.07.020

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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