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A rising titan: TTN review and mutation update.
Chauveau C, Rowell J, Ferreiro A. Chauveau C, et al. Hum Mutat. 2014 Sep;35(9):1046-59. doi: 10.1002/humu.22611. Epub 2014 Jul 21. Hum Mutat. 2014. PMID: 24980681 Review.
Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
Chauveau C, Bonnemann CG, Julien C, Kho AL, Marks H, Talim B, Maury P, Arne-Bes MC, Uro-Coste E, Alexandrovich A, Vihola A, Schafer S, Kaufmann B, Medne L, Hübner N, Foley AR, Santi M, Udd B, Topaloglu H, Moore SA, Gotthardt M, Samuels ME, Gautel M, Ferreiro A. Chauveau C, et al. Hum Mol Genet. 2014 Feb 15;23(4):980-91. doi: 10.1093/hmg/ddt494. Epub 2013 Oct 8. Hum Mol Genet. 2014. PMID: 24105469 Free PMC article.
The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.
Davignon L, Chauveau C, Julien C, Dill C, Duband-Goulet I, Cabet E, Buendia B, Lilienbaum A, Rendu J, Minot MC, Guichet A, Allamand V, Vadrot N, Fauré J, Odent S, Lazaro L, Leroy JP, Marcorelles P, Dubourg O, Ferreiro A. Davignon L, et al. Among authors: chauveau c. Hum Mol Genet. 2016 Apr 15;25(8):1559-73. doi: 10.1093/hmg/ddw033. Epub 2016 Feb 9. Hum Mol Genet. 2016. PMID: 27008887
Molecular Characterization of a Rare Case of Monozygotic Dichorionic Diamniotic Twin Pregnancy after Single Blastocyst Transfer in Preimplantation Genetic Testing (PGT).
Brouillet S, Mereuze S, Ranisavljevic N, Chauveau C, Hamamah S, Cattin J, Verebi C, Cabrol C, Ishmukhametova A, Girardet A, Anahory T, Willems M. Brouillet S, et al. Among authors: chauveau c. Int J Mol Sci. 2022 Sep 16;23(18):10835. doi: 10.3390/ijms231810835. Int J Mol Sci. 2022. PMID: 36142745 Free PMC article.
KiT-GENIE, the French genetic biobank of kidney transplantation.
Ba R, Durand A, Mauduit V, Chauveau C, Le Bas-Bernardet S, Salle S, Guérif P, Morin M, Petit C, Douillard V, Rousseau O, Blancho G, Kerleau C, Vince N, Giral M, Gourraud PA, Limou S. Ba R, et al. Among authors: chauveau c. Eur J Hum Genet. 2023 Nov;31(11):1291-1299. doi: 10.1038/s41431-023-01294-z. Epub 2023 Feb 3. Eur J Hum Genet. 2023. PMID: 36737541
Raman microspectroscopy reveals unsaturation heterogeneity at the lipid droplet level and validates an in vitro model of bone marrow adipocyte subtypes.
Tratwal J, Falgayrac G, During A, Bertheaume N, Bataclan C, Tavakol DN, Campos V, Duponchel L, Daley GQ, Penel G, Chauveau C, Naveiras O. Tratwal J, et al. Among authors: chauveau c. Front Endocrinol (Lausanne). 2022 Nov 23;13:1001210. doi: 10.3389/fendo.2022.1001210. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36506047 Free PMC article.
Stimulatory Effect of Tofacitinib on Bone Marrow Adipocytes Differentiation.
Letarouilly JG, Paccou J, Badr S, Chauveau C, Broux O, Clabaut A. Letarouilly JG, et al. Among authors: chauveau c. Front Endocrinol (Lausanne). 2022 Jul 6;13:881699. doi: 10.3389/fendo.2022.881699. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35873000 Free PMC article.
80 results