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PIK3CA-Related Overgrowth Syndrome, Pluripotency, Expression in speCific Tissue and Secretion

CORDIS provides links to public deliverables and publications of HORIZON projects.

Links to deliverables and publications from FP7 projects, as well as links to some specific result types such as dataset and software, are dynamically retrieved from OpenAIRE .

Publications

PIK3CA gain-of-function mutation in adipose tissue induces metabolic reprogramming with Warburg-like effect and severe endocrine disruption. (opens in new window)

Author(s): Ladraa S, Zerbib L, Bayard C, Fraissenon A, Venot Q, Morin G, Garneau AP, Isnard P, Chapelle C, Hoguin C, Fraitag S, Duong JP, Guibaud L, Besançon A, Kaltenbach S, Villarese P, Asnafi V, Broissand C, Goudin N, Dussiot M, Nemazanyy I, Viel T, Autret G, Cruciani-Guglielmacci C, Denom J, Bruneau J, Tavitian B, Legendre C, Dairou J, Lacorte JM, Levy P, Pende M, Polak M, Canaud G.
Published in: Science Advances, 2023, ISSN 2375-2548
Publisher: l'American Association for the Advancement of Science
DOI: 10.1126/sciadv.ade7823

Alpelisib administration reduced lymphatic malformations in a mouse model and in patients (opens in new window)

Author(s): Florence Delestre; Quitterie Venot; Charles Bayard; Antoine Fraissenon; Sophia Ladraa; Clément Hoguin; Célia Chapelle; Junna Yamaguchi; Rubina Cassaca; Lola Zerbib; Sato Magassa; Gabriel Morin; Vahid Asnafi; Patrick Villarese Sophie Kaltenbach Sylvie Fraitag Jean-Paul Duong Christine Broissand Olivia Boccara Véronique Soupre Bernard Bonnotte Caroline Chopinet Tristan Mirault Christophe Legen
Published in: Science Translational Medicine, 2021, ISSN 1946-6234
Publisher: American Association for the Advancement of Science
DOI: 10.1126/scitranslmed.abg0809

Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib (opens in new window)

Author(s): Gabriel Morin; Caroline Degrugillier-Chopinet; Marie Vincent; Antoine Fraissenon; Hélène Aubert; Célia Chapelle; Clément Hoguin; François Dubos; Benoit Catteau; Florence Petit; Aurélie Mezel; Olivia Domanski; Guillaume Herbreteau; Marie Alesandrini; Nathalie Boddaert; Nathalie Boutry; Christine Broissand; Tianxiang Kevin Han; Fabrice Branle; Sabine Sarnacki; Thomas Blanc; Laurent Guibaud; Gu
Published in: Journal of Experimental Medicine, Issue 1, 2022, ISSN 0022-1007
Publisher: Rockefeller University Press
DOI: 10.1084/jem.20212148

A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations (opens in new window)

Author(s): Guillaume Canaud; Adrienne M Hammill; Denise Adams; Miikka Vikkula; Kim M Keppler-Noreuil
Published in: Orphanet Journal of Rare Diseases, Issue 17501172, 2021, ISSN 1750-1172
Publisher: BioMed Central
DOI: 10.1186/s13023-021-01929-8

Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition. (opens in new window)

Author(s): Bayard C, Segna E, Taverne M, Fraissenon A, Hennocq Q, Periou B, Zerbib L, Ladraa S, Chapelle C, Hoguin C, Kaltenbach S, Villarese P, Asnafi V, Broissand C, Nemazanyy I, Autret G, Goudin N, Legendre C, Authier FJ, Viel T, Tavitian B, Gitiaux C, Fraitag S, Duong JP, Delcros C, Sergent B, Picard A, Dussiot M, Guibaud L, Khonsari R, Canaud G.
Published in: Journal of Experimental Medicine, 2023, ISSN 0022-1007
Publisher: Rockefeller University Press
DOI: 10.1084/jem.20230926

Treatment strategies for mosaic overgrowth syndromes of the PI3K-AKT-mTOR pathway (opens in new window)

Author(s): Morin G, Canaud G.
Published in: British Medical Bulletin, 2021, ISSN 1471-8391
Publisher: Oxford University Press
DOI: 10.1093/bmb/ldab023

Alpelisib for Treatment of Patients With PIK3CA-Related Overgrowth Spectrum (PROS). (opens in new window)

Author(s): Canaud G, Gutierrez JCL, Irvine AD, Vabres P, Hansford JR, Ankrah N, Branle F, Papadimitriou A, Ridolfi A, O'Connell P, Turner S, Adams DM.
Published in: Genetics in Medicine, 2023, ISSN 1098-3600
Publisher: Lippincott Williams & Wilkins Ltd.
DOI: 10.1016/j.gim.2023.100969

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