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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: dhennin v. 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.
Genetic studies of abdominal MRI data identify genes regulating hepcidin as major determinants of liver iron concentration.
Wilman HR, Parisinos CA, Atabaki-Pasdar N, Kelly M, Thomas EL, Neubauer S; IMI DIRECT Consortium; Mahajan A, Hingorani AD, Patel RS, Hemingway H, Franks PW, Bell JD, Banerjee R, Yaghootkar H. Wilman HR, et al. J Hepatol. 2019 Sep;71(3):594-602. doi: 10.1016/j.jhep.2019.05.032. Epub 2019 Jun 19. J Hepatol. 2019. PMID: 31226389 Free PMC article.
Variation in the Plasma Membrane Monoamine Transporter (PMAT) (Encoded by SLC29A4) and Organic Cation Transporter 1 (OCT1) (Encoded by SLC22A1) and Gastrointestinal Intolerance to Metformin in Type 2 Diabetes: An IMI DIRECT Study.
Dawed AY, Zhou K, van Leeuwen N, Mahajan A, Robertson N, Koivula R, Elders PJM, Rauh SP, Jones AG, Holl RW, Stingl JC, Franks PW, McCarthy MI, 't Hart LM, Pearson ER; IMI DIRECT Consortium. Dawed AY, et al. Diabetes Care. 2019 Jun;42(6):1027-1033. doi: 10.2337/dc18-2182. Epub 2019 Mar 18. Diabetes Care. 2019. PMID: 30885951
Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing.
Bonnefond A, Philippe J, Durand E, Muller J, Saeed S, Arslan M, Martínez R, De Graeve F, Dhennin V, Rabearivelo I, Polak M, Cavé H, Castaño L, Vaxillaire M, Mandel JL, Sand O, Froguel P. Bonnefond A, et al. Among authors: dhennin v. Diabetes Care. 2014 Feb;37(2):460-7. doi: 10.2337/dc13-0698. Epub 2013 Sep 16. Diabetes Care. 2014. PMID: 24041679
11 results