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Page 1
Expression and functional assessment of candidate type 2 diabetes susceptibility genes identify four new genes contributing to human insulin secretion.
Ndiaye FK, Ortalli A, Canouil M, Huyvaert M, Salazar-Cardozo C, Lecoeur C, Verbanck M, Pawlowski V, Boutry R, Durand E, Rabearivelo I, Sand O, Marselli L, Kerr-Conte J, Chandra V, Scharfmann R, Poulain-Godefroy O, Marchetti P, Pattou F, Abderrahmani A, Froguel P, Bonnefond A. Ndiaye FK, et al. Among authors: scharfmann r. Mol Metab. 2017 Apr 8;6(6):459-470. doi: 10.1016/j.molmet.2017.03.011. eCollection 2017 Jun. Mol Metab. 2017. PMID: 28580277 Free PMC article.
New ABCC8 mutations in relapsing neonatal diabetes and clinical features.
Vaxillaire M, Dechaume A, Busiah K, Cavé H, Pereira S, Scharfmann R, de Nanclares GP, Castano L, Froguel P, Polak M; SUR1-Neonatal Diabetes Study Group. Vaxillaire M, et al. Among authors: scharfmann r. Diabetes. 2007 Jun;56(6):1737-41. doi: 10.2337/db06-1540. Epub 2007 Mar 27. Diabetes. 2007. PMID: 17389331
Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group.
Polak M, Dechaume A, Cavé H, Nimri R, Crosnier H, Sulmont V, de Kerdanet M, Scharfmann R, Lebenthal Y, Froguel P, Vaxillaire M; French ND (Neonatal Diabetes) Study Group. Polak M, et al. Among authors: scharfmann r. Diabetes. 2008 Apr;57(4):1115-9. doi: 10.2337/db07-1358. Epub 2008 Jan 2. Diabetes. 2008. PMID: 18171712
Neonatal hyperglycaemia and abnormal development of the pancreas.
Flechtner I, Vaxillaire M, Cavé H, Scharfmann R, Froguel P, Polak M. Flechtner I, et al. Among authors: scharfmann r. Best Pract Res Clin Endocrinol Metab. 2008 Feb;22(1):17-40. doi: 10.1016/j.beem.2007.08.003. Best Pract Res Clin Endocrinol Metab. 2008. PMID: 18279778 Review.
Insulin storage and glucose homeostasis in mice null for the granule zinc transporter ZnT8 and studies of the type 2 diabetes-associated variants.
Nicolson TJ, Bellomo EA, Wijesekara N, Loder MK, Baldwin JM, Gyulkhandanyan AV, Koshkin V, Tarasov AI, Carzaniga R, Kronenberger K, Taneja TK, da Silva Xavier G, Libert S, Froguel P, Scharfmann R, Stetsyuk V, Ravassard P, Parker H, Gribble FM, Reimann F, Sladek R, Hughes SJ, Johnson PR, Masseboeuf M, Burcelin R, Baldwin SA, Liu M, Lara-Lemus R, Arvan P, Schuit FC, Wheeler MB, Chimienti F, Rutter GA. Nicolson TJ, et al. Among authors: scharfmann r. Diabetes. 2009 Sep;58(9):2070-83. doi: 10.2337/db09-0551. Epub 2009 Jun 19. Diabetes. 2009. PMID: 19542200 Free PMC article.
Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.
Bonnefond A, Durand E, Sand O, De Graeve F, Gallina S, Busiah K, Lobbens S, Simon A, Bellanné-Chantelot C, Létourneau L, Scharfmann R, Delplanque J, Sladek R, Polak M, Vaxillaire M, Froguel P. Bonnefond A, et al. Among authors: scharfmann r. PLoS One. 2010 Oct 26;5(10):e13630. doi: 10.1371/journal.pone.0013630. PLoS One. 2010. PMID: 21049026 Free PMC article.
Per-arnt-sim (PAS) domain-containing protein kinase is downregulated in human islets in type 2 diabetes and regulates glucagon secretion.
da Silva Xavier G, Farhan H, Kim H, Caxaria S, Johnson P, Hughes S, Bugliani M, Marselli L, Marchetti P, Birzele F, Sun G, Scharfmann R, Rutter J, Siniakowicz K, Weir G, Parker H, Reimann F, Gribble FM, Rutter GA. da Silva Xavier G, et al. Among authors: scharfmann r. Diabetologia. 2011 Apr;54(4):819-27. doi: 10.1007/s00125-010-2010-7. Epub 2010 Dec 23. Diabetologia. 2011. PMID: 21181396 Free PMC article.
195 results