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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 M, Coutton C, Zouari R, Karaouzène T, Rendu J, Bidart M, Yassine S, Pierre V, Delaroche J, Hennebicq S, Grunwald D, Escalier D, Pernet-Gallay K, Jouk PS, Thierry-Mieg N, Touré A, Arnoult C, Ray PF. Ben Khelifa M, et al. Am J Hum Genet. 2014 Jan 2;94(1):95-104. doi: 10.1016/j.ajhg.2013.11.017. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360805 Free PMC article.
Triadin deletion induces impaired skeletal muscle function.
Oddoux S, Brocard J, Schweitzer A, Szentesi P, Giannesini B, Brocard J, Fauré J, Pernet-Gallay K, Bendahan D, Lunardi J, Csernoch L, Marty I. Oddoux S, et al. J Biol Chem. 2009 Dec 11;284(50):34918-29. doi: 10.1074/jbc.M109.022442. Epub 2009 Oct 19. J Biol Chem. 2009. PMID: 19843516 Free PMC article.
Intermittent Hypoxia Rewires the Liver Transcriptome and Fires up Fatty Acids Usage for Mitochondrial Respiration.
Gaucher J, Vial G, Montellier E, Guellerin M, Bouyon S, Lemarie E, Pelloux V, Bertrand A, Pernet-Gallay K, Lamarche F, Borel AL, Arnaud C, Belaidi E, Clément K, Godin Ribuot D, Aron-Wisnewsky J, Pépin JL. Gaucher J, et al. Among authors: pernet gallay k. Front Med (Lausanne). 2022 Feb 18;9:829979. doi: 10.3389/fmed.2022.829979. eCollection 2022. Front Med (Lausanne). 2022. PMID: 35252260 Free PMC article.
51 results