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Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella.
Martinez G, Kherraf ZE, Zouari R, Fourati Ben Mustapha S, Saut A, Pernet-Gallay K, Bertrand A, Bidart M, Hograindleur JP, Amiri-Yekta A, Kharouf M, Karaouzène T, Thierry-Mieg N, Dacheux-Deschamps D, Satre V, Bonhivers M, Touré A, Arnoult C, Ray PF, Coutton C. Martinez G, et al. Among authors: bertrand a. Hum Reprod. 2018 Oct 1;33(10):1973-1984. doi: 10.1093/humrep/dey264. Hum Reprod. 2018. PMID: 30137358
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: bertrand a. 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.
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
Gueneau L, Bertrand AT, Jais JP, Salih MA, Stojkovic T, Wehnert M, Hoeltzenbein M, Spuler S, Saitoh S, Verschueren A, Tranchant C, Beuvin M, Lacene E, Romero NB, Heath S, Zelenika D, Voit T, Eymard B, Ben Yaou R, Bonne G. Gueneau L, et al. Among authors: bertrand at. Am J Hum Genet. 2009 Sep;85(3):338-53. doi: 10.1016/j.ajhg.2009.07.015. Epub 2009 Aug 27. Am J Hum Genet. 2009. PMID: 19716112 Free PMC article.
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.
Ben Yaou R, Navarro C, Quijano-Roy S, Bertrand AT, Massart C, De Sandre-Giovannoli A, Cadiñanos J, Mamchaoui K, Butler-Browne G, Estournet B, Richard P, Barois A, Lévy N, Bonne G. Ben Yaou R, et al. Among authors: bertrand at. Eur J Hum Genet. 2011 Jun;19(6):647-54. doi: 10.1038/ejhg.2010.256. Epub 2011 Jan 26. Eur J Hum Genet. 2011. PMID: 21267004 Free PMC article.
Heterozygous LmnadelK32 mice develop dilated cardiomyopathy through a combined pathomechanism of haploinsufficiency and peptide toxicity.
Cattin ME, Bertrand AT, Schlossarek S, Le Bihan MC, Skov Jensen S, Neuber C, Crocini C, Maron S, Lainé J, Mougenot N, Varnous S, Fromes Y, Hansen A, Eschenhagen T, Decostre V, Carrier L, Bonne G. Cattin ME, et al. Among authors: bertrand at. Hum Mol Genet. 2013 Aug 1;22(15):3152-64. doi: 10.1093/hmg/ddt172. Epub 2013 Apr 10. Hum Mol Genet. 2013. PMID: 23575224 Free article.
Clinical and genetic heterogeneity in laminopathies.
Bertrand AT, Chikhaoui K, Yaou RB, Bonne G. Bertrand AT, et al. Biochem Soc Trans. 2011 Dec;39(6):1687-92. doi: 10.1042/BST20110670. Biochem Soc Trans. 2011. PMID: 22103508 Review.
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