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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: philippe j. 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. Among authors: philippe j. PLoS One. 2012;7(6):e37423. doi: 10.1371/journal.pone.0037423. Epub 2012 Jun 11. PLoS One. 2012. PMID: 22701567 Free PMC article.
Reassessment of the putative role of BLK-p.A71T loss-of-function mutation in MODY and type 2 diabetes.
Bonnefond A, Yengo L, Philippe J, Dechaume A, Ezzidi I, Vaillant E, Gjesing AP, Andersson EA, Czernichow S, Hercberg S, Hadjadj S, Charpentier G, Lantieri O, Balkau B, Marre M, Pedersen O, Hansen T, Froguel P, Vaxillaire M. Bonnefond A, et al. Among authors: philippe j. Diabetologia. 2013 Mar;56(3):492-6. doi: 10.1007/s00125-012-2794-8. Epub 2012 Dec 6. Diabetologia. 2013. PMID: 23224494
Glucose-dependent regulation of NR2F2 promoter and influence of SNP-rs3743462 on whole body insulin sensitivity.
Boutant M, Ramos OH, Lecoeur C, Vaillant E, Philippe J, Zhang P, Perilhou A, Valcarcel B, Sebert S, Jarvelin MR, Balkau B, Scott D, Froguel P, Vaxillaire M, Vasseur-Cognet M. Boutant M, et al. Among authors: philippe j. PLoS One. 2012;7(5):e35810. doi: 10.1371/journal.pone.0035810. Epub 2012 May 14. PLoS One. 2012. PMID: 22606236 Free PMC article.
679 results