Identification of a Homozygous Mutation of CCDC40 in a Chinese Infertile Man with MMAF and PCD-like Phenotypes-Reference-Cited by-同舟云学术

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Identification of a Homozygous Mutation of CCDC40 in a Chinese Infertile Man with MMAF and PCD-like Phenotypes

Published:2024-08-01 Issue:8 Volume:28 Page:337-341
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Liu Zhonglin¹,Wang Chunyan²³,Ni Feng⁴,Li Tingshu¹,Yang Fenglian⁵,Wei Han²³,Li Tengyan³,Huang Changhui⁶,Wang Junli¹⁵,Wang Binbin²³⁷^ORCID

Affiliation:

1. Center of Reproductive Medicine, Affiliated hospital of Youjiang Medical University for Nationalities, Baise, China.

2. Graduate School of Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China.

3. Center for Genetics, National Research Institute of Family Planning, Beijing, China.

4. Medicine Center, 901st hospital of PLA Joint Logistic Support Force, Hefei, China.

5. Industrial College of biomedicine and health industry, Youjiang Medical University for Nationalities, Baise, China.

6. Department of Radiology, Affiliated hospital of Youjiang Medical University for Nationalities, Baise, China.

7. NHC Key Laboratory of Reproductive Health Engineering Technology Research (NRIFP), Beijing, China.

Publisher

Mary Ann Liebert Inc

Link

https://www.liebertpub.com/doi/pdf/10.1089/gtmb.2023.0263

Reference16 articles.

1. Generation of the induced pluripotent stem cell line UHOMi001-A from a patient with mutations in CCDC40 gene causing Primary Ciliary Dyskinesia (PCD)

2. The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

3. Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella

4. A novel CCDC39 mutation causes multiple morphological abnormalities of the flagella in a primary ciliary dyskinesia patient

5. Novel Gene Variants Associated with Primary Ciliary Dyskinesia

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