A novel homozygous mutation in DNAJB13—a gene associated with the sperm axoneme—leads to teratozoospermia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Developmental Biology,Obstetrics and Gynecology,Genetics,Reproductive Medicine,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10815-022-02431-1.pdf
Reference23 articles.
1. Krausz C, Riera-Escamilla A. Genetics of male infertility. Nat Rev Urol. 2018;15(6):369–84. https://doi.org/10.1038/s41585-018-0003-3.
2. Coutton C, Escoffier J, Martinez G, Arnoult C, Ray PF. Teratozoospermia: spotlight on the main genetic actors in the human. Hum Reprod Update. 2015;21(4):455–85. https://doi.org/10.1093/humupd/dmv020.
3. Zhu F, Wang F, Yang X, Zhang J, Wu H, Zhang Z, et al. Biallelic SUN5 mutations cause autosomal-recessive acephalic spermatozoa syndrome. Am J Hum Genet. 2016;99(4):942–9. https://doi.org/10.1016/j.ajhg.2016.11.002.
4. Wang X, Jin H, Han F, Cui Y, Chen J, Yang C, et al. Homozygous DNAH1 frameshift mutation causes multiple morphological anomalies of the sperm flagella in Chinese. Clin Genet. 2017;91(2):313–21. https://doi.org/10.1111/cge.12857.
5. Tang S, Wang X, Li W, Yang X, Li Z, Liu W, et al. Biallelic mutations in CFAP43 and CFAP44 cause male infertility with multiple morphological abnormalities of the sperm flagella. Am J Hum Genet. 2017;100(6):854–64. https://doi.org/10.1016/j.ajhg.2017.04.012.
Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Deficiency in a special dynein DNAH12 causes male infertility by impairing DNAH1 and DNALI1 recruitment in humans and mice;2024-08-27
2. Deficiency in a special dynein DNAH12 causes male infertility by impairing DNAH1 and DNALI1 recruitment in humans and mice;2024-08-27
3. Deficiency in a special dynein DNAH12 causes male infertility by impairing DNAH1 and DNALI1 recruitment in humans and mice;2024-06-23
4. High-resolution structure of mouse radial spoke and its in-situ structure in ependymal cilia revealed by cryo-EM and cryo-ET;2023-06-03
5. DNAJB7 is dispensable for male fertility in mice;Reproductive Biology and Endocrinology;2023-03-31
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3