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Page 1
Exploring the role of purinergic receptor P2RY1 in type 2 diabetes risk and pathophysiology: Insights from human functional genomics.
Dance A, Fernandes J, Toussaint B, Vaillant E, Boutry R, Baron M, Loiselle H, Balkau B, Charpentier G, Franc S, Ibberson M, Marre M, Gernay M, Fadeur M, Paquot N, Vaxillaire M, Boissel M, Amanzougarene S, Derhourhi M, Khamis A, Froguel P, Bonnefond A. Dance A, et al. Among authors: vaillant e. Mol Metab. 2024 Jan;79:101867. doi: 10.1016/j.molmet.2023.101867. Epub 2023 Dec 28. Mol Metab. 2024. PMID: 38159881 Free PMC article.
CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability.
Montagne L, Derhourhi M, Piton A, Toussaint B, Durand E, Vaillant E, Thuillier D, Gaget S, De Graeve F, Rabearivelo I, Lansiaux A, Lenne B, Sukno S, Desailloud R, Cnop M, Nicolescu R, Cohen L, Zagury JF, Amouyal M, Weill J, Muller J, Sand O, Delobel B, Froguel P, Bonnefond A. Montagne L, et al. Among authors: vaillant e. Mol Metab. 2018 Jul;13:1-9. doi: 10.1016/j.molmet.2018.05.005. Epub 2018 May 16. Mol Metab. 2018. PMID: 29784605 Free PMC article.
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.
Baron M, Maillet J, Huyvaert M, Dechaume A, Boutry R, Loiselle H, Durand E, Toussaint B, Vaillant E, Philippe J, Thomas J, Ghulam A, Franc S, Charpentier G, Borys JM, Lévy-Marchal C, Tauber M, Scharfmann R, Weill J, Aubert C, Kerr-Conte J, Pattou F, Roussel R, Balkau B, Marre M, Boissel M, Derhourhi M, Gaget S, Canouil M, Froguel P, Bonnefond A. Baron M, et al. Among authors: vaillant e. Nat Med. 2019 Nov;25(11):1733-1738. doi: 10.1038/s41591-019-0622-0. Epub 2019 Nov 7. Nat Med. 2019. PMID: 31700171 Free PMC article.
Pathogenic variants in actionable MODY genes are associated with type 2 diabetes.
Bonnefond A, Boissel M, Bolze A, Durand E, Toussaint B, Vaillant E, Gaget S, Graeve F, Dechaume A, Allegaert F, Guilcher DL, Yengo L, Dhennin V, Borys JM, Lu JT, Cirulli ET, Elhanan G, Roussel R, Balkau B, Marre M, Franc S, Charpentier G, Vaxillaire M, Canouil M, Washington NL, Grzymski JJ, Froguel P. Bonnefond A, et al. Among authors: vaillant e. Nat Metab. 2020 Oct;2(10):1126-1134. doi: 10.1038/s42255-020-00294-3. Epub 2020 Oct 12. Nat Metab. 2020. PMID: 33046911 Free article.
Contribution of heterozygous PCSK1 variants to obesity and implications for precision medicine: a case-control study.
Folon L, Baron M, Toussaint B, Vaillant E, Boissel M, Scherrer V, Loiselle H, Leloire A, Badreddine A, Balkau B, Charpentier G, Franc S, Marre M, Aboulouard S, Salzet M, Canouil M, Derhourhi M, Froguel P, Bonnefond A. Folon L, et al. Among authors: vaillant e. Lancet Diabetes Endocrinol. 2023 Mar;11(3):182-190. doi: 10.1016/S2213-8587(22)00392-8. Lancet Diabetes Endocrinol. 2023. PMID: 36822744 Free article.
Pathogenic monoallelic variants in GLIS3 increase type 2 diabetes risk and identify a subgroup of patients sensitive to sulfonylureas.
Meulebrouck S, Scherrer V, Boutry R, Toussaint B, Vaillant E, Dechaume A, Loiselle H, Balkau B, Charpentier G, Franc S, Marre M, Baron M, Vaxillaire M, Derhourhi M, Boissel M, Froguel P, Bonnefond A. Meulebrouck S, et al. Among authors: vaillant e. Diabetologia. 2024 Feb;67(2):327-332. doi: 10.1007/s00125-023-06035-x. Epub 2023 Dec 5. Diabetologia. 2024. PMID: 38051360 Free PMC article.
Dominant PDX1 deficiency causes highly penetrant diabetes at different ages, associated with obesity and exocrine pancreatic deficiency: Lessons for precision medicine.
Kouidrat Y, Le Collen L, Vaxillaire M, Dechaume A, Toussaint B, Vaillant E, Amanzougarene S, Derhourhi M, Delemer B, Azahaf M, Froguel P, Bonnefond A. Kouidrat Y, et al. Among authors: vaillant e. Diabetes Metab. 2024 Jan;50(1):101507. doi: 10.1016/j.diabet.2023.101507. Epub 2023 Dec 21. Diabetes Metab. 2024. PMID: 38141807
Pathogenic, Total Loss-of-Function DYRK1B Variants Cause Monogenic Obesity Associated With Type 2 Diabetes.
Folon L, Baron M, Scherrer V, Toussaint B, Vaillant E, Loiselle H, Dechaume A, De Pooter F, Boutry R, Boissel M, Diallo A, Ning L, Balkau B, Charpentier G, Franc S, Marre M, Derhourhi M, Froguel P, Bonnefond A. Folon L, et al. Among authors: vaillant e. Diabetes Care. 2024 Mar 1;47(3):444-451. doi: 10.2337/dc23-1851. Diabetes Care. 2024. PMID: 38170957
Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes.
Bonnefond A, Clément N, Fawcett K, Yengo L, Vaillant E, Guillaume JL, Dechaume A, Payne F, Roussel R, Czernichow S, Hercberg S, Hadjadj S, Balkau B, Marre M, Lantieri O, Langenberg C, Bouatia-Naji N; Meta-Analysis of Glucose and Insulin-Related Traits Consortium (MAGIC); Charpentier G, Vaxillaire M, Rocheleau G, Wareham NJ, Sladek R, McCarthy MI, Dina C, Barroso I, Jockers R, Froguel P. Bonnefond A, et al. Among authors: vaillant e. Nat Genet. 2012 Jan 29;44(3):297-301. doi: 10.1038/ng.1053. Nat Genet. 2012. PMID: 22286214 Free PMC article.
Contribution of the low-frequency, loss-of-function p.R270H mutation in FFAR4 (GPR120) to increased fasting plasma glucose levels.
Bonnefond A, Lamri A, Leloire A, Vaillant E, Roussel R, Lévy-Marchal C, Weill J, Galan P, Hercberg S, Ragot S, Hadjadj S, Charpentier G, Balkau B, Marre M, Fumeron F, Froguel P. Bonnefond A, et al. Among authors: vaillant e. J Med Genet. 2015 Sep;52(9):595-8. doi: 10.1136/jmedgenet-2015-103065. Epub 2015 May 29. J Med Genet. 2015. PMID: 26025001
67 results