Novel Compound Heterozygous Variants in CCDC40 Associated with Primary Ciliary Dyskinesia and Multiple Morphological Abnormalities of the Sperm Flagella-Reference-Cited by-同舟云学术

Novel Compound Heterozygous Variants in CCDC40 Associated with Primary Ciliary Dyskinesia and Multiple Morphological Abnormalities of the Sperm Flagella

Published:2022-04 Issue: Volume:Volume 15 Page:341-350
ISSN:1178-7066
Container-title:Pharmacogenomics and Personalized Medicine
language:en
Short-container-title:PGPM

Author:

Xu Yingjie,Yang Binyi,Lei Cheng,Yang Dan-hui,Ding Shuizi,Lu Chenyang,Wang Lin,Guo Ting,Wang Rongchun,Luo Hong^ORCID

Publisher

Informa UK Limited

Subject

Pharmacology,Molecular Medicine

Reference34 articles.

1. Genetic Defects in Ciliary Structure and Function

2. Ciliary defects and genetics of primary ciliary dyskinesia

3. Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

4. Motile ciliopathies

5. Teratozoospermia: spotlight on the main genetic actors in the human

Cited by 9 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. Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7;Cells;2024-07-15

2. Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement;Cells;2024-06-11

3. CCDC146 is required for sperm flagellum biogenesis and male fertility in mice;Cellular and Molecular Life Sciences;2023-12-01

4. Pathogenic gene variants in CCDC39, CCDC40, RSPH1, RSPH9, HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertility;Frontiers in Genetics;2023-02-17

5. Clinical detection, diagnosis and treatment of morphological abnormalities of sperm flagella: A review of literature;Frontiers in Genetics;2022-11-08