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Li-Fraumeni syndrome: a germline TP53 splice variant reveals a novel physiological alternative transcript.
Louis J, Rolain M, Levacher C, Baudry K, Pujol P, Ruminy P, Baert Desurmont S, Bou J, Bouvignies E, Coutant S, Kasper E, Lienard G, Vasseur S, Vezain M, Houdayer C, Charbonnier F, Bougeard G. Louis J, et al. Among authors: vasseur s. J Med Genet. 2025 Jan 9:jmg-2024-110449. doi: 10.1136/jmg-2024-110449. Online ahead of print. J Med Genet. 2025. PMID: 39788694
Dysregulation of muscle cholesterol transport in amyotrophic lateral sclerosis.
Sapaly D, Cheguillaume F, Weill L, Clerc Z, Biondi O, Bendris S, Buon C, Slika R, Piller E, Sundaram VK, da Silva Ramos A, Amador MDM, Lenglet T, Debs R, Le Forestier N, Pradat PF, Salachas F, Lacomblez L, Hesters A, Borderie D, Devos D, Desnuelle C, Rolland AS, Periou B, Vasseur S, Chapart M, Le Ber I, Fauret-Amsellem AL, Millecamps S, Maisonobe T, Leonard-Louis S, Behin A, Authier FJ, Evangelista T, Charbonnier F, Bruneteau G; PULSE study group. Sapaly D, et al. Among authors: vasseur s. Brain. 2024 Aug 28:awae270. doi: 10.1093/brain/awae270. Online ahead of print. Brain. 2024. PMID: 39197036
Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1).
Rochat J, Blavier A, Ruet S, Vasseur S, Puma A, Desnous B, Chan V, Delmont E, Attarian S, Juntas Morales R, Quadrio I, Vidoni L, Bonello-Palot N, Cheillan D. Rochat J, et al. Among authors: vasseur s. Genes (Basel). 2024 May 26;15(6):692. doi: 10.3390/genes15060692. Genes (Basel). 2024. PMID: 38927628 Free PMC article.
Ketogenic HMG-CoA lyase and its product β-hydroxybutyrate promote pancreatic cancer progression.
Gouirand V, Gicquel T, Lien EC, Jaune-Pons E, Da Costa Q, Finetti P, Metay E, Duluc C, Mayers JR, Audebert S, Camoin L, Borge L, Rubis M, Leca J, Nigri J, Bertucci F, Dusetti N, Iovanna JL, Tomasini R, Bidaut G, Guillaumond F, Vander Heiden MG, Vasseur S. Gouirand V, et al. Among authors: vasseur s. EMBO J. 2022 May 2;41(9):e110466. doi: 10.15252/embj.2021110466. Epub 2022 Mar 21. EMBO J. 2022. PMID: 35307861 Free PMC article.
Detecting inversions in routine molecular diagnosis in MMR genes.
Kasper E, Coutant S, Manase S, Vasseur S, Macquère P, Bougeard G, Faivre L, Ingster O, Baert-Desurmont S, Houdayer C. Kasper E, et al. Among authors: vasseur s. Fam Cancer. 2022 Oct;21(4):423-428. doi: 10.1007/s10689-021-00287-5. Epub 2022 Jan 8. Fam Cancer. 2022. PMID: 34997397
Meeting report of the 4th biennial Metabolism and Cancer symposium.
Abdel Hadi N, Boet E, Lahalle A, Lauture L, Refeyton A, Reyes-Castellanos G, Caplet N, Carrier A, Le Cam L, Mazure NM, Ricci JE, Rocchi S, Sarry JE, Vasseur S, Vlaski-Lafarge M, Rossignol R, Bost F. Abdel Hadi N, et al. Among authors: vasseur s. FEBS J. 2022 Sep;289(18):5516-5526. doi: 10.1111/febs.16295. Epub 2021 Dec 1. FEBS J. 2022. PMID: 34817127 Free article.
93 results