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Page 1
Gain of Function of Malate Dehydrogenase 2 and Familial Hyperglycemia.
Jungtrakoon Thamtarana P, Marucci A, Pannone L, Bonnefond A, Pezzilli S, Biagini T, Buranasupkajorn P, Hastings T, Mendonca C, Marselli L, Di Paola R, Abubakar Z, Mercuri L, Alberico F, Flex E, Ceròn J, Porta-de-la-Riva M, Ludovico O, Carella M, Martinelli S, Marchetti P, Mazza T, Froguel P, Trischitta V, Doria A, Prudente S. Jungtrakoon Thamtarana P, et al. Among authors: bonnefond a. J Clin Endocrinol Metab. 2022 Feb 17;107(3):668-684. doi: 10.1210/clinem/dgab790. J Clin Endocrinol Metab. 2022. PMID: 34718610 Free PMC article.
A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk.
Bouatia-Naji N, Bonnefond A, Cavalcanti-Proença C, Sparsø T, Holmkvist J, Marchand M, Delplanque J, Lobbens S, Rocheleau G, Durand E, De Graeve F, Chèvre JC, Borch-Johnsen K, Hartikainen AL, Ruokonen A, Tichet J, Marre M, Weill J, Heude B, Tauber M, Lemaire K, Schuit F, Elliott P, Jørgensen T, Charpentier G, Hadjadj S, Cauchi S, Vaxillaire M, Sladek R, Visvikis-Siest S, Balkau B, Lévy-Marchal C, Pattou F, Meyre D, Blakemore AI, Jarvelin MR, Walley AJ, Hansen T, Dina C, Pedersen O, Froguel P. Bouatia-Naji N, et al. Among authors: bonnefond a. Nat Genet. 2009 Jan;41(1):89-94. doi: 10.1038/ng.277. Epub 2008 Dec 7. Nat Genet. 2009. PMID: 19060909
[Inputs from the genetics of fasting glucose: lessons for diabetes].
Bouatia-Naji N, Bonnefond A, Froguel P. Bouatia-Naji N, et al. Among authors: bonnefond a. Med Sci (Paris). 2009 Nov;25(11):897-902. doi: 10.1051/medsci/20092511897. Med Sci (Paris). 2009. PMID: 19951660 Free article. French. No abstract available.
Genetic and functional assessment of the role of the rs13431652-A and rs573225-A alleles in the G6PC2 promoter that are strongly associated with elevated fasting glucose levels.
Bouatia-Naji N, Bonnefond A, Baerenwald DA, Marchand M, Bugliani M, Marchetti P, Pattou F, Printz RL, Flemming BP, Umunakwe OC, Conley NL, Vaxillaire M, Lantieri O, Balkau B, Marre M, Lévy-Marchal C, Elliott P, Jarvelin MR, Meyre D, Dina C, Oeser JK, Froguel P, O'Brien RM. Bouatia-Naji N, et al. Among authors: bonnefond a. Diabetes. 2010 Oct;59(10):2662-71. doi: 10.2337/db10-0389. Epub 2010 Jul 9. Diabetes. 2010. PMID: 20622168 Free PMC article.
The emerging genetics of type 2 diabetes.
Bonnefond A, Froguel P, Vaxillaire M. Bonnefond A, et al. Trends Mol Med. 2010 Sep;16(9):407-16. doi: 10.1016/j.molmed.2010.06.004. Epub 2010 Aug 20. Trends Mol Med. 2010. PMID: 20728409 Review.
Human mutation within Per-Arnt-Sim (PAS) domain-containing protein kinase (PASK) causes basal insulin hypersecretion.
Semplici F, Vaxillaire M, Fogarty S, Semache M, Bonnefond A, Fontés G, Philippe J, Meur G, Diraison F, Sessions RB, Rutter J, Poitout V, Froguel P, Rutter GA. Semplici F, et al. Among authors: bonnefond a. J Biol Chem. 2011 Dec 23;286(51):44005-44014. doi: 10.1074/jbc.M111.254995. Epub 2011 Nov 7. J Biol Chem. 2011. PMID: 22065581 Free PMC article.
Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.
Bonnefond A, Philippe J, Durand E, Dechaume A, Huyvaert M, Montagne L, Marre M, Balkau B, Fajardy I, Vambergue A, Vatin V, Delplanque J, Le Guilcher D, De Graeve F, Lecoeur C, Sand O, Vaxillaire M, Froguel P. Bonnefond A, et al. PLoS One. 2012;7(6):e37423. doi: 10.1371/journal.pone.0037423. Epub 2012 Jun 11. PLoS One. 2012. PMID: 22701567 Free PMC article.
268 results