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PIK3CA gain-of-function mutation in adipose tissue induces metabolic reprogramming with Warburg-like effect and severe endocrine disruption

PIK3CA-related overgrowth syndrome (PROS) is a genetic disorder caused by somatic mosaic gain-of-function mutations of PIK3CA. Clinical presentation of patients is diverse and associated with endocrine disruption. Adipose tissue is frequently involved, but its role in disease development and progres...

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Detalles Bibliográficos
Autores principales: Ladraa, Sophia, Zerbib, Lola, Bayard, Charles, Fraissenon, Antoine, Venot, Quitterie, Morin, Gabriel, Garneau, Alexandre P., Isnard, Pierre, Chapelle, Célia, Hoguin, Clément, Fraitag, Sylvie, Duong, Jean-Paul, Guibaud, Laurent, Besançon, Alix, Kaltenbach, Sophie, Villarese, Patrick, Asnafi, Vahid, Broissand, Christine, Goudin, Nicolas, Dussiot, Michael, Nemazanyy, Ivan, Viel, Thomas, Autret, Gwennhael, Cruciani-Guglielmacci, Céline, Denom, Jessica, Bruneau, Julie, Tavitian, Bertrand, Legendre, Christophe, Dairou, Julien, Lacorte, Jean-Marc, Levy, Pacifique, Pende, Mario, Polak, Michel, Canaud, Guillaume
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association for the Advancement of Science 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9733923/
https://www.ncbi.nlm.nih.gov/pubmed/36490341
http://dx.doi.org/10.1126/sciadv.ade7823