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Page 1
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: zerbib l. 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.
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: zerbib l. 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.
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: zerbib l. Sci Transl Med. 2021 Oct 6;13(614):eabg0809. doi: 10.1126/scitranslmed.abg0809. Epub 2021 Oct 6. Sci Transl Med. 2021. PMID: 34613809
Sotorasib for Vascular Malformations Associated with KRAS G12C Mutation.
Fraissenon A, Bayard C, Morin G, Benichi S, Hoguin C, Protic S, Zerbib L, Ladraa S, Firpion M, Blauwblomme T, Naggara O, Duruisseaux M, Delous M, Boitel C, Bringuier PP, Payen L, Legendre C, Kaltenbach S, Balducci E, Villarese P, Asnafi V, Bisdorff A, Guibaud L, Canaud G. Fraissenon A, et al. Among authors: zerbib l. N Engl J Med. 2024 Jul 25;391(4):334-342. doi: 10.1056/NEJMoa2309160. Epub 2024 Jul 17. N Engl J Med. 2024. PMID: 39018528
Targeted therapy for capillary-venous malformations.
Zerbib L, Ladraa S, Fraissenon A, Bayard C, Firpion M, Venot Q, Protic S, Hoguin C, Thomas A, Fraitag S, Duong JP, Kaltenbach S, Balducci E, Lefevre C, Villarese P, Asnafi V, Broissand C, Goudin N, Nemazanyy I, Autret G, Tavitian B, Legendre C, Arzouk N, Minard-Colin V, Chopinet C, Dussiot M, Adams DM, Mirault T, Guibaud L, Isenring P, Canaud G. Zerbib L, et al. Signal Transduct Target Ther. 2024 Jun 17;9(1):146. doi: 10.1038/s41392-024-01862-9. Signal Transduct Target Ther. 2024. PMID: 38880808 Free PMC 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: zerbib l. Annu Rev Genomics Hum Genet. 2024 Aug;25(1):211-237. doi: 10.1146/annurev-genom-121222-114518. Epub 2024 Aug 6. Annu Rev Genomics Hum Genet. 2024. PMID: 38316164 Review.
A Harry Potter fan.
Zerbib LD, Steele RW. Zerbib LD, et al. Clin Pediatr (Phila). 2013 Jan;52(1):96-8. doi: 10.1177/0009922812458359. Epub 2012 Aug 28. Clin Pediatr (Phila). 2013. PMID: 22930779 No abstract available.