Výsledky vyhledávání - "Aurélie Claussmann"

BBS-Induced Ciliary Defect Enhances Adipogenesis, Causing Paradoxical Higher-Insulin Sensitivity, Glucose Usage, and Decreased Inflammatory Response

Autor: Luc Dupuis, Myriam Durand, Vincent Marion, Jean-Philippe Loeffler, Charlie De Melo, Alban Simon, Peter J. King, Aurélie Claussmann, Nikolai Petrovsky, Hélène Dollfus, Cathy Obringer, Catherine Mutter-Schmidt, Nadia Messaddeq, Anais Mockel, Corinne Stoetzel

Publikováno v: Cell Metabolism. 16:363-377

Summary Studying ciliopathies, like the Bardet-Biedl syndrome (BBS), allow the identification of signaling pathways potentially involved in common diseases, sharing phenotypic features like obesity or type 2 diabetes. Given the close association betw

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d3572210a1e26f31d1379ed0d58cf5c
https://doi.org/10.1016/j.cmet.2012.08.005

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Exome sequencing identifies mutations inLZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly

Autor: Catherine Barrey, Eric H Souied, Sophie Hellé, Vincent Marion, Hélène Dollfus, Charlie De Melo, Marion Gérard, Elise Schaefer, Corinne Stoetzel, Valérie Delague, Aurélie Claussmann, Alain Verloes, Fanny Stutzmann

Publikováno v: Journal of Medical Genetics. 49:317-321

Background Bardet–Biedl Syndrome (BBS) is an emblematic recessive genetically highly heterogeneous ciliopathy characterised mainly by polydactyly, retinitis pigmentosa, obesity, cognitive impairment, and kidney dysfunction. The 16 BBS genes known t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::145c4f5a97771da720f27d889408400f
https://doi.org/10.1136/jmedgenet-2012-100737

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