Novel bi-allelic DNAH3 variants cause oligoasthenoteratozoospermia
Novel biallelic mutations in DNAH3, especially those resulting in a premature stop codon, may alter protein expression, structure, and active site, leading to spermatogenic failure and potentially inducing OAT. The discovery of new mutations in DNAH3 may be the key to the diagnosis and treatment of OAT.
Authors
- Yixiang Cai (ORCID: https://orcid.org/0009-0005-9985-0172)
- Yanqiu Zhao
- Shijia Zhang (ORCID: https://orcid.org/0000-0001-6108-0321)
- Hongtai Chen (ORCID: https://orcid.org/0000-0002-5035-9236)
- Zexin Zhang (ORCID: https://orcid.org/0000-0002-4963-5002)
- Song-Xi Tang (ORCID: https://orcid.org/0000-0002-2443-0836)
- Yanwei Sha (ORCID: https://orcid.org/0000-0002-0321-4915)
- Shu Li (ORCID: https://orcid.org/0000-0002-0832-9383)
- Wensheng Liu (ORCID: https://orcid.org/0000-0002-3616-7609)
- Linna Xie (ORCID: https://orcid.org/0000-0003-4163-8994)
- Baozhen Ren (ORCID: https://orcid.org/0009-0008-1206-8033)
Institutions
- Fujian Medical University (CN)
- Xiamen University (CN)
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Peking Union Medical College Hospital (CN)
- First Affiliated Hospital of Fujian Medical University (CN)
- Health Commission of Guandgong Province (CN)
Publication Details
- Journal
- Frontiers in Endocrinology
- Published
- 2024-10-28
- DOI
- https://doi.org/10.3389/fendo.2024.1462509
- Citations
- 3
- Primary Topic
- Toxoplasma gondii Research Studies
- Type
- article
- Field-Weighted Citation Impact
- 1.55
Funders
- Science and Technology Projects of Fujian Province