Biallelic variants in α-tubulin isotypes cause female infertility characterised as recurrent preimplantation embryo arrest
Our findings identified <i>TUBA1C</i> as a novel genetic marker and expanded the genetic and phenotypic spectrum of <i>TUBA4A</i> in female infertility and RPEA, which altogether highlighted the importance of α-tubulin isotypes in preimplantation embryonic development.
Authors
- Yifan Gu (ORCID: https://orcid.org/0000-0001-7669-5046)
- Wei Zheng (ORCID: https://orcid.org/0000-0002-1397-4176)
- Shuoping Zhang
- Huiling Hu (ORCID: https://orcid.org/0000-0001-6984-9377)
- Fei Gong (ORCID: https://orcid.org/0000-0002-7474-0680)
- Han Zhao (ORCID: https://orcid.org/0000-0001-9515-7534)
- Jiaqi Sun (ORCID: https://orcid.org/0000-0002-6708-1883)
- Fei Meng (ORCID: https://orcid.org/0009-0005-7016-913X)
- Honghui Zhang (ORCID: https://orcid.org/0009-0007-4218-9285)
- Xian Wan
- Ge Lin
Institutions
- Central South University (CN)
- Shandong University (CN)
- Hunan Normal University (CN)
- Reproductive & Genetic Hospital CITIC-Xiangya (CN)
- University of South China (CN)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2024-08-29
- DOI
- https://doi.org/10.1136/jmg-2024-110163
- Citations
- 6
- Primary Topic
- Reproductive Biology and Fertility
- Type
- article
- Field-Weighted Citation Impact
- 3.26
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Hunan Province
- National Key Research and Development Program of China