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Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy.
Carrier L, Bonne G, Bährend E, Yu B, Richard P, Niel F, Hainque B, Cruaud C, Gary F, Labeit S, Bouhour JB, Dubourg O, Desnos M, Hagège AA, Trent RJ, Komajda M, Fiszman M, Schwartz K. Carrier L, et al. Among authors: bonne g. Circ Res. 1997 Mar;80(3):427-34. Circ Res. 1997. PMID: 9048664
Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies.
Arimura T, Helbling-Leclerc A, Massart C, Varnous S, Niel F, Lacène E, Fromes Y, Toussaint M, Mura AM, Keller DI, Amthor H, Isnard R, Malissen M, Schwartz K, Bonne G. Arimura T, et al. Among authors: bonne g. Hum Mol Genet. 2005 Jan 1;14(1):155-69. doi: 10.1093/hmg/ddi017. Epub 2004 Nov 17. Hum Mol Genet. 2005. PMID: 15548545
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: bonne g. 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.
DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death.
Bertrand AT, Renou L, Papadopoulos A, Beuvin M, Lacène E, Massart C, Ottolenghi C, Decostre V, Maron S, Schlossarek S, Cattin ME, Carrier L, Malissen M, Arimura T, Bonne G. Bertrand AT, et al. Among authors: bonne g. Hum Mol Genet. 2012 Mar 1;21(5):1037-48. doi: 10.1093/hmg/ddr534. Epub 2011 Nov 16. Hum Mol Genet. 2012. PMID: 22090424
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: bonne g. 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.
Forelimb treatment in a large cohort of dystrophic dogs supports delivery of a recombinant AAV for exon skipping in Duchenne patients.
Le Guiner C, Montus M, Servais L, Cherel Y, Francois V, Thibaud JL, Wary C, Matot B, Larcher T, Guigand L, Dutilleul M, Domenger C, Allais M, Beuvin M, Moraux A, Le Duff J, Devaux M, Jaulin N, Guilbaud M, Latournerie V, Veron P, Boutin S, Leborgne C, Desgue D, Deschamps JY, Moullec S, Fromes Y, Vulin A, Smith RH, Laroudie N, Barnay-Toutain F, Rivière C, Bucher S, Le TH, Delaunay N, Gasmi M, Kotin RM, Bonne G, Adjali O, Masurier C, Hogrel JY, Carlier P, Moullier P, Voit T. Le Guiner C, et al. Among authors: bonne g. Mol Ther. 2014 Nov;22(11):1923-35. doi: 10.1038/mt.2014.151. Epub 2014 Aug 4. Mol Ther. 2014. PMID: 25200009 Free PMC article.
244 results