A novel homozygous splice variant in <italic>DNAAF4</italic> is associated with asthenozoospermia
Author:
Publisher
China Science Publishing & Media Ltd.
Subject
General Medicine,Biochemistry,Biophysics,Molecular Biology
Link
https://engine.scichina.com/doi/pdf/AE3D2BDA075B46DBB33C7AEA80332C9F
Reference10 articles.
1. Vanaken GJ, Bassinet L, Boon M, Mani R, Honoré I, Papon JF, Cuppens H. Infertility in an adult cohort with primary ciliary dyskinesia: phenotype-gene association. Eur Respir J, 2017, 50:
2. Guo T, Lu C, Yang D, Lei C, Liu Y, Xu Y, Yang B. Case report: DNAAF4 variants cause primary ciliary dyskinesia and infertility in two han Chinese families. Front Genet, 2022, 13:
3. Taipale M, Kaminen N, Nopola-Hemmi J, Haltia T, Myllyluoma B, Lyytinen H, Muller K. A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain. Proc Natl Acad Sci USA, 2003, 100: 11553-11558.
4. Tarkar A, Loges NT, Slagle CE, Francis R, Dougherty GW, Tamayo JV, Shook B. DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nat Genet, 2013, 45: 995-1003.
5. Zhang X, Zhang P, Song D, Xiong S, Zhang H, Fu J, Gao F. Expression profiles and characteristics of human lncRNA in normal and asthenozoospermia sperm. Biol Reprod, 2019, 100: 982-993.
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