A novel CCDC39 mutation causes multiple morphological abnormalities of the flagella in a primary ciliary dyskinesia patient-Reference-Cited by-同舟云学术

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

Published:2021-11 Issue:5 Volume:43 Page:920-930
ISSN:1472-6483
Container-title:Reproductive BioMedicine Online
language:en
Short-container-title:Reproductive BioMedicine Online

Author:

Chen Daijuan,Liang Yan,Li Juan,Zhang Xueguang,Zheng Rui,Wang Xiaodong,Zhang Heng,Shen Ying

Funder

Sichuan University

National Natural Science Foundation of China

Publisher

Elsevier BV

Subject

Developmental Biology,Reproductive Medicine,Obstetrics and Gynaecology

Reference26 articles.

1. Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms;Antony;Hum. Mutat.,2012

2. Loss of calmodulin- and radial-spoke-associated complex protein CFAP251 leads to immotile spermatozoa lacking mitochondria and infertility in men;Auguste;Am. J. Hum. Genet.,2018

3. Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella;Ben Khelifa;Am. J. Hum. Genet.,2014

4. Spermatogenic cells of the prepuberal mouse. Isolation and morphological characterization;Bellvé;J. Cell. Biol.,1977

5. Purification, culture, and fractionation of spermatogenic cells;Bellvé;Methods Enzymol.,1993

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1. Identification of a Homozygous Mutation of CCDC40 in a Chinese Infertile Man with MMAF and PCD-like Phenotypes;Genetic Testing and Molecular Biomarkers;2024-08-01

2. 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

3. Bi-allelic variants in DNAH3 cause male infertility with asthenoteratozoospermia in humans and mice;Human Reproduction Open;2024-01-01

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

5. Prenatal Array-CGH Detection of 3q26.32q26.33 Interstitial Deletion Encompassing the SOX2 Gene: Ultrasound, Pathological, and Cytogenetic Findings;Fetal and Pediatric Pathology;2023-09-25

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