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Page 1
Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib.
Morin G, Degrugillier-Chopinet C, Vincent M, Fraissenon A, Aubert H, Chapelle C, Hoguin C, Dubos F, Catteau B, Petit F, Mezel A, Domanski O, Herbreteau G, Alesandrini M, Boddaert N, Boutry N, Broissand C, Han TK, Branle F, Sarnacki S, Blanc T, Guibaud L, Canaud G. Morin G, et al. Among authors: fraissenon a. J Exp Med. 2022 Mar 7;219(3):e20212148. doi: 10.1084/jem.20212148. Epub 2022 Jan 26. J Exp Med. 2022. PMID: 35080595 Free PMC article.
PIK3CA gain-of-function mutation in adipose tissue induces metabolic reprogramming with Warburg-like effect and severe endocrine disruption.
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. Ladraa S, et al. Among authors: fraissenon a. Sci Adv. 2022 Dec 9;8(49):eade7823. doi: 10.1126/sciadv.ade7823. Epub 2022 Dec 9. Sci Adv. 2022. PMID: 36490341 Free PMC article.
Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition.
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. Bayard C, et al. Among authors: fraissenon a. J Exp Med. 2023 Nov 6;220(11):e20230926. doi: 10.1084/jem.20230926. Epub 2023 Sep 15. J Exp Med. 2023. PMID: 37712948 Free PMC article.
Intramuscular capillary-type hemangioma: Diagnosis, treatment, and outcomes. A French multicentric retrospective study of 66 cases.
Orly J, Bisdorff A, Fraissenon A, Joly A, Boulouis G, Guibaud L, Tavernier E, Mallet S, Marcelin C, Miquel J, Martin L, Droitcourt C, Gusdorf L, Abasq C, Dadban A, Chiaverini C, Vabres P, Herbreteau D, Boccara O, Wassef M, Maruani A. Orly J, et al. Among authors: fraissenon a. Eur J Radiol. 2023 Aug;165:110962. doi: 10.1016/j.ejrad.2023.110962. Epub 2023 Jul 4. Eur J Radiol. 2023. PMID: 37423018 Free article.
PIK3CA-Related Disorders: From Disease Mechanism to Evidence-Based Treatments.
Morin GM, Zerbib L, Kaltenbach S, Fraissenon A, Balducci E, Asnafi V, Canaud G. Morin GM, et al. Among authors: fraissenon a. Annu Rev Genomics Hum Genet. 2024 Feb 5. doi: 10.1146/annurev-genom-121222-114518. Online ahead of print. Annu Rev Genomics Hum Genet. 2024. PMID: 38316164 Review.
Alpelisib administration reduced lymphatic malformations in a mouse model and in patients.
Delestre F, Venot Q, Bayard C, Fraissenon A, Ladraa S, Hoguin C, Chapelle C, Yamaguchi J, Cassaca R, Zerbib L, Magassa S, Morin G, Asnafi V, Villarese P, Kaltenbach S, Fraitag S, Duong JP, Broissand C, Boccara O, Soupre V, Bonnotte B, Chopinet C, Mirault T, Legendre C, Guibaud L, Canaud G. Delestre F, et al. Among authors: fraissenon a. Sci Transl Med. 2021 Oct 6;13(614):eabg0809. doi: 10.1126/scitranslmed.abg0809. Epub 2021 Oct 6. Sci Transl Med. 2021. PMID: 34613809
Fat and Sucrose Intake Induces Obesity-Related Bone Metabolism Disturbances: Kinetic and Reversibility Studies in Growing and Adult Rats.
Lavet C, Martin A, Linossier MT, Vanden Bossche A, Laroche N, Thomas M, Gerbaix M, Ammann P, Fraissenon A, Lafage-Proust MH, Courteix D, Vico L. Lavet C, et al. Among authors: fraissenon a. J Bone Miner Res. 2016 Jan;31(1):98-115. doi: 10.1002/jbmr.2596. Epub 2015 Aug 28. J Bone Miner Res. 2016. PMID: 26175082 Free article.