Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse-Reference-Cited by-同舟云学术

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Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse

Published:2021-07-13 Issue:9 Volume:140 Page:1367-1377
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Shen Qunshan,Martinez Guillaume,Liu Hongbin,Beurois Julie,Wu Huan,Amiri-Yekta Amir,Liang Dan,Kherraf Zine-Eddine,Bidart Marie,Cazin Caroline,Celse Tristan,Satre Véronique,Thierry-Mieg Nicolas,Whitfield Marjorie,Touré Aminata,Song Bing,Lv Mingrong,Li Kuokuo,Liu Chunyu,Tao Fangbiao,He Xiaojin,Zhang Feng,Arnoult Christophe,Ray Pierre F.,Cao Yunxia,Coutton Charles^ORCID

Funder

Agence Nationale de la Recherche

National Key R&D Program of China

Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences

Innovative Research Group Project of the National Natural Science Foundation of China

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s00439-021-02313-z.pdf

Reference29 articles.

1. Auguste Y, Delague V, Desvignes J-P et al (2018) Loss of calmodulin- and radial-spoke-associated complex protein CFAP251 leads to immotile spermatozoa lacking mitochondria and infertility in men. Am J Hum Genet 103:413–420. https://doi.org/10.1016/j.ajhg.2018.07.013

2. Beckers A, Adis C, Schuster-Gossler K et al (2020) The FOXJ1 target Cfap206 is required for sperm motility, mucociliary clearance of the airways and brain development. Development. https://doi.org/10.1242/dev.188052

3. Ben Khelifa M, Coutton C, Zouari R et al (2014) Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella. Am J Hum Genet 94:95–104. https://doi.org/10.1016/j.ajhg.2013.11.017

4. Blackburn K, Bustamante-Marin X, Yin W et al (2017) Quantitative proteomic analysis of human airway cilia identifies previously uncharacterized proteins of high abundance. J Proteome Res 16:1579–1592. https://doi.org/10.1021/acs.jproteome.6b00972

5. Brown JM, Witman GB (2014) Cilia and diseases. Bioscience 64:1126–1137. https://doi.org/10.1093/biosci/biu174

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