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A."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0340","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1016\/S2213-8587(18)30106-2","article-title":"Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study","volume":"6","author":"Bowman","year":"2018","journal-title":"Lancet Diabetes Endocrinol."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0345","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1126\/science.1101902","article-title":"A selective inhibitor of eIF2alpha dephosphorylation protects cells from ER stress","volume":"307","author":"Boyce","year":"2005","journal-title":"Science"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0350","doi-asserted-by":"crossref","first-page":"3232","DOI":"10.1093\/hmg\/ddw173","article-title":"A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay","volume":"25","author":"Bradshaw","year":"2016","journal-title":"Hum. 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(Oxf)"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0425","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1002\/ajmg.a.32304","article-title":"A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis","volume":"146A","author":"Chappell","year":"2008","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0430","doi-asserted-by":"crossref","first-page":"2466","DOI":"10.1101\/gad.8.20.2466","article-title":"Disruption of the HNF-4 gene, expressed in visceral endoderm, leads to cell death in embryonic ectoderm and impaired gastrulation of mouse embryos","volume":"8","author":"Chen","year":"1994","journal-title":"Genes Dev."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0435","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1101\/gad.1779509","article-title":"Cisd2 deficiency drives premature aging and causes mitochondria-mediated defects in mice","volume":"23","author":"Chen","year":"2009","journal-title":"Genes Dev."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0440","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.4161\/auto.5.7.9351","article-title":"Cisd2 mediates mitochondrial integrity and life span in mammals","volume":"5","author":"Chen","year":"2009","journal-title":"Autophagy"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0445","first-page":"3326","article-title":"Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome\/maturity onset diabetes of the young type 5","volume":"123","author":"Chen","year":"2010","journal-title":"Chin Med J (Engl)"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0450","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1126\/science.aad7977","article-title":"Sperm tsRNAs contribute to intergenerational inheritance of an acquired metabolic disorder","volume":"351","author":"Chen","year":"2016","journal-title":"Science"},{"issue":"Suppl. 2","key":"10.1016\/bs.ircmb.2021.02.005_bb0455","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1111\/dom.13401","article-title":"Islet prohormone processing in health and disease","volume":"20","author":"Chen","year":"2018","journal-title":"Diabetes Obes. 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A."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0470","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1203\/00006450-198003000-00006","article-title":"Abnormalities of carbohydrate metabolism in idiopathic Fanconi syndrome","volume":"14","author":"Chesney","year":"1980","journal-title":"Pediatr. Res."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0475","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1038\/ng.1019","article-title":"Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians","volume":"44","author":"Cho","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0480","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1530\/EJE-08-0203","article-title":"Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation","volume":"159","author":"Christesen","year":"2008","journal-title":"Eur. J. Endocrinol."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0485","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.20010","article-title":"Genetic evidence that Nkx2.2 acts primarily downstream of Neurog3 in pancreatic endocrine lineage development","volume":"6","author":"Churchill","year":"2017","journal-title":"Elife"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0490","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1002\/ana.410310408","article-title":"MELAS: clinical features, biochemistry, and molecular genetics","volume":"31","author":"Ciafaloni","year":"1992","journal-title":"Ann. 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Neurol."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0505","doi-asserted-by":"crossref","first-page":"1024","DOI":"10.1016\/j.molmet.2017.06.001","article-title":"Endoplasmic reticulum stress and eIF2alpha phosphorylation: the Achilles heel of pancreatic beta cells","volume":"6","author":"Cnop","year":"2017","journal-title":"Mol. Metab."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0510","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1002\/humu.22279","article-title":"Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia","volume":"34","author":"Colclough","year":"2013","journal-title":"Hum. 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Clin. Invest."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0540","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1111\/pedi.12063","article-title":"Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6","volume":"15","author":"Concepcion","year":"2014","journal-title":"Pediatr. Diabetes"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0545","doi-asserted-by":"crossref","first-page":"1221","DOI":"10.1093\/hmg\/ddp592","article-title":"Molecular control of the cytosolic aconitase\/IRP1 switch by extramitochondrial frataxin","volume":"19","author":"Condo","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0550","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1016\/j.tem.2014.03.013","article-title":"Revealing transcription factors during human pancreatic beta cell development","volume":"25","author":"Conrad","year":"2014","journal-title":"Trends Endocrinol. Metab."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0555","doi-asserted-by":"crossref","first-page":"29500","DOI":"10.1074\/jbc.274.41.29500","article-title":"Three conserved transcriptional repressor domains are a defining feature of the TIEG subfamily of Sp1-like zinc finger proteins","volume":"274","author":"Cook","year":"1999","journal-title":"J. Biol. Chem."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0560","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1111\/j.1749-6632.1999.tb09513.x","article-title":"Sp1 and its likes: biochemical and functional predictions for a growing family of zinc finger transcription factors","volume":"880","author":"Cook","year":"1999","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0565","doi-asserted-by":"crossref","first-page":"10302","DOI":"10.1093\/nar\/gky839","article-title":"Pancreatic beta-cell tRNA hypomethylation and fragmentation link TRMT10A deficiency with diabetes","volume":"46","author":"Cosentino","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0570","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1210\/en.2019-00098","article-title":"The tRNA epitranscriptome and diabetes: emergence of trna hypomodifications as a cause of pancreatic beta-cell failure","volume":"160","author":"Cosentino","year":"2019","journal-title":"Endocrinology"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0575","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1002\/humu.10258","article-title":"Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease","volume":"22","author":"Cryns","year":"2003","journal-title":"Hum. 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Roentgenol."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0595","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1111\/j.1464-5491.2008.02443.x","article-title":"Variable phenotypic spectrum of diabetes mellitus in a family carrying a novel KCNJ11 gene mutation","volume":"25","author":"D'Amato","year":"2008","journal-title":"Diabet. Med."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0600","doi-asserted-by":"crossref","first-page":"1195","DOI":"10.1111\/j.1464-5491.2010.03046.x","article-title":"Genetic investigation in an Italian child with an unusual association of atrial septal defect, attributable to a new familial GATA4 gene mutation, and neonatal diabetes due to pancreatic agenesis","volume":"27","author":"D'Amato","year":"2010","journal-title":"Diabet. 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Med."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0625","doi-asserted-by":"crossref","first-page":"993","DOI":"10.2337\/db12-0885","article-title":"GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency","volume":"62","author":"De Franco","year":"2013","journal-title":"Diabetes"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0630","doi-asserted-by":"crossref","first-page":"2044","DOI":"10.2337\/db16-1296","article-title":"Dominant ER stress-inducing WFS1 mutations underlie a genetic syndrome of neonatal\/infancy-onset diabetes, congenital sensorineural deafness, and congenital cataracts","volume":"66","author":"De Franco","year":"2017","journal-title":"Diabetes"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0635","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1016\/j.ajhg.2019.03.018","article-title":"A specific CNOT1 mutation results in a Novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development","volume":"104","author":"De Franco","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0640","doi-asserted-by":"crossref","first-page":"477","DOI":"10.2337\/db19-1029","article-title":"De novo mutations in EIF2B1 affecting eIF2 signaling cause neonatal\/early-onset diabetes and transient hepatic dysfunction","volume":"69","author":"De Franco","year":"2020","journal-title":"Diabetes"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0645","doi-asserted-by":"crossref","first-page":"6338","DOI":"10.1172\/JCI141455","article-title":"YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress","volume":"130","author":"De Franco","year":"2020","journal-title":"J. Clin. Invest."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0650","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1038\/gim.2012.180","article-title":"Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype","volume":"15","author":"De Heredia","year":"2013","journal-title":"Genet. Med."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0655","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1172\/JCI119594","article-title":"Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy","volume":"100","author":"De Lonlay","year":"1997","journal-title":"J. Clin. Invest."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0660","doi-asserted-by":"crossref","first-page":"1435","DOI":"10.1002\/j.1460-2075.1991.tb07664.x","article-title":"LFB3, a heterodimer-forming homeoprotein of the LFB1 family, is expressed in specialized epithelia","volume":"10","author":"De Simone","year":"1991","journal-title":"Embo J."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0665","doi-asserted-by":"crossref","first-page":"2489","DOI":"10.1172\/JCI118308","article-title":"Human and rat beta cells differ in glucose transporter but not in glucokinase gene expression","volume":"96","author":"De Vos","year":"1995","journal-title":"J. Clin. Invest."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0670","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1177\/000992280204100310","article-title":"Compound heterozygosity for the common sulfonylurea receptor mutations can cause mild diazoxide-sensitive hyperinsulinism","volume":"41","author":"Dekel","year":"2002","journal-title":"Clin. 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Endocrinol."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0705","doi-asserted-by":"crossref","first-page":"E1362","DOI":"10.1210\/jc.2015-1827","article-title":"Expanding the clinical spectrum associated with GLIS3 mutations","volume":"100","author":"Dimitri","year":"2015","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0710","doi-asserted-by":"crossref","first-page":"1729","DOI":"10.1086\/302938","article-title":"Phenotypes of patients with \"simple\" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics","volume":"66","author":"Dipple","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0715","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1242\/dev.02763","article-title":"Nkx2.2-repressor activity is sufficient to specify alpha-cells and a small number of beta-cells in the pancreatic islet","volume":"134","author":"Doyle","year":"2007","journal-title":"Development"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0720","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1172\/JCI30076","article-title":"The role of gut hormones in glucose homeostasis","volume":"117","author":"Drucker","year":"2007","journal-title":"J. Clin. Invest."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0725","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1002\/dmrr.2325","article-title":"Overexpression of ZAC impairs glucose-stimulated insulin translation and secretion in clonal pancreatic beta-cells","volume":"28","author":"Du","year":"2012","journal-title":"Diabetes Metab. Res. Rev."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0730","article-title":"Familial GATA6 mutation causing variably expressed diabetes mellitus and cardiac and renal abnormalities","volume":"2019","author":"Du","year":"2019","journal-title":"Endocrinol. Diabetes Metab. Case Rep."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0735","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1186\/s12881-020-0954-0","article-title":"A rare combination of MODY5 and duodenal atresia in a patient: a case report","volume":"21","author":"Du","year":"2020","journal-title":"BMC Med. Genet."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0740","doi-asserted-by":"crossref","first-page":"24457","DOI":"10.1074\/jbc.273.38.24457","article-title":"Defective pancreatic beta-cell glycolytic signaling in hepatocyte nuclear factor-1alpha-deficient mice","volume":"273","author":"Dukes","year":"1998","journal-title":"J. Biol. Chem."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0745","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1515\/jpem.2011.083","article-title":"HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes","volume":"24","author":"Dusatkova","year":"2011","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0750","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1038\/33311","article-title":"Regulatory factor linked to late-onset diabetes?","volume":"392","author":"Dutta","year":"1998","journal-title":"Nature"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0755","doi-asserted-by":"crossref","first-page":"1556","DOI":"10.1091\/mbc.e09-12-1002","article-title":"Yip1A structures the mammalian endoplasmic reticulum","volume":"21","author":"Dykstra","year":"2010","journal-title":"Mol. Biol. 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Genet."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0775","doi-asserted-by":"crossref","first-page":"1301","DOI":"10.1111\/j.1464-5491.2006.01999.x","article-title":"Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1beta in human pancreatic development","volume":"23","author":"Edghill","year":"2006","journal-title":"Diabet. 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Med. Genet."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0795","doi-asserted-by":"crossref","first-page":"pe7","DOI":"10.1126\/scisignal.3110pe7","article-title":"ER stress in pancreatic beta cells: the thin red line between adaptation and failure","volume":"3","author":"Eizirik","year":"2010","journal-title":"Sci. Signal."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0800","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1002\/humu.20357","article-title":"Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young","volume":"27","author":"Ellard","year":"2006","journal-title":"Hum. 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Genet."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0820","doi-asserted-by":"crossref","first-page":"1752","DOI":"10.1212\/WNL.55.11.1752","article-title":"Increased levels of plasma malondialdehyde in Friedreich ataxia","volume":"55","author":"Emond","year":"2000","journal-title":"Neurology"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0825","doi-asserted-by":"crossref","first-page":"5976","DOI":"10.1073\/pnas.85.16.5976","article-title":"An erythrocyte-specific DNA-binding factor recognizes a regulatory sequence common to all chicken globin genes","volume":"85","author":"Evans","year":"1988","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0830","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1038\/ki.2011.225","article-title":"Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood","volume":"80","author":"Faguer","year":"2011","journal-title":"Kidney Int."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0835","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1056\/NEJMra002168","article-title":"Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young","volume":"345","author":"Fajans","year":"2001","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0840","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/j.trsl.2010.03.003","article-title":"Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60","volume":"156","author":"Fajans","year":"2010","journal-title":"Transl. Res."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0845","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1016\/0888-7543(95)80045-N","article-title":"A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1","volume":"25","author":"Fantes","year":"1995","journal-title":"Genomics"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0850","doi-asserted-by":"crossref","first-page":"36482","DOI":"10.1074\/jbc.M109.028852","article-title":"MODY7 gene, KLF11, is a novel p300-dependent regulator of Pdx-1 (MODY4) transcription in pancreatic islet beta cells","volume":"284","author":"Fernandez-Zapico","year":"2009","journal-title":"J. Biol. Chem."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0855","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.1007\/s00467-018-3990-7","article-title":"New insights into the role of HNF-1beta in kidney (patho)physiology","volume":"34","author":"Ferre","year":"2019","journal-title":"Pediatr. 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Scand."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0875","doi-asserted-by":"crossref","first-page":"253","DOI":"10.3389\/fendo.2018.00253","article-title":"Genetic testing of maturity-onset diabetes of the young current status and future perspectives","volume":"9","author":"Firdous","year":"2018","journal-title":"Front. Endocrinol. (Lausanne)"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0880","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1111\/j.1469-8749.2011.04032.x","article-title":"The deciphering developmental disorders (DDD) study","volume":"53","author":"Firth","year":"2011","journal-title":"Dev. Med. 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Metab."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0945","doi-asserted-by":"crossref","first-page":"8281","DOI":"10.1128\/MCB.19.12.8281","article-title":"Identification of a portable repression domain and an E1A-responsive activation domain in Pax4: a possible role of Pax4 as a transcriptional repressor in the pancreas","volume":"19","author":"Fujitani","year":"1999","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0950","doi-asserted-by":"crossref","first-page":"2421","DOI":"10.2337\/db07-1558","article-title":"Reduction of Ptf1a gene dosage causes pancreatic hypoplasia and diabetes in mice","volume":"57","author":"Fukuda","year":"2008","journal-title":"Diabetes"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0955","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1515\/jpem-2019-0057","article-title":"A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature","volume":"32","author":"Gaisl","year":"2019","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0960","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1111\/pedi.13041","article-title":"Neonatal diabetes due to potassium channel mutation: response to sulfonylurea according to the genotype","volume":"21","author":"Garcin","year":"2020","journal-title":"Pediatr. 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A."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0980","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1016\/S0022-3476(74)80351-3","article-title":"The Fanconi syndrome associated with hepatic glycogenosis and abnormal metabolism of galactose","volume":"85","author":"Garty","year":"1974","journal-title":"J. Pediatr."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0985","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1038\/sj.embor.embor918","article-title":"An interaction between frataxin and Isu1\/Nfs1 that is crucial for Fe\/S cluster synthesis on Isu1","volume":"4","author":"Gerber","year":"2003","journal-title":"Embo Rep."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb0990","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1093\/hmg\/dds400","article-title":"Vacuolar-type H+-ATPase V1A subunit is a molecular partner of Wolfram syndrome 1 (WFS1) protein, which regulates its expression and stability","volume":"22","author":"Gharanei","year":"2013","journal-title":"Hum. 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A."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1070","doi-asserted-by":"crossref","first-page":"1648","DOI":"10.2337\/diacare.46.10.1648","article-title":"Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4 alpha binding site in the promoter of the hepatocyte nuclear factor-1 alpha gene","volume":"46","author":"Gragnoli","year":"1997","journal-title":"Diabetes"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1075","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.mod.2006.11.002","article-title":"Notch signaling reveals developmental plasticity of Pax4(+) pancreatic endocrine progenitors and shunts them to a duct fate","volume":"124","author":"Greenwood","year":"2007","journal-title":"Mech. 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Invest."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1115","doi-asserted-by":"crossref","first-page":"1937","DOI":"10.2337\/db09-1064","article-title":"PERK (EIF2AK3) regulates proinsulin trafficking and quality control in the secretory pathway","volume":"59","author":"Gupta","year":"2010","journal-title":"Diabetes"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1120","first-page":"345","article-title":"Diagnosis of ABCC8 congenital hyperinsulinism of infancy in a 20-year-old man evaluated for factitious hypoglycemia","volume":"102","author":"Gutgold","year":"2017","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1125","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1172\/JCI88017","article-title":"Pancreatic beta cell identity requires continual repression of non-beta cell programs","volume":"127","author":"Gutierrez","year":"2017","journal-title":"J. Clin. 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Nutr."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1200","doi-asserted-by":"crossref","first-page":"1274","DOI":"10.1093\/hmg\/ddq568","article-title":"Wolfram syndrome 1 gene (WFS1) product localizes to secretory granules and determines granule acidification in pancreatic beta-cells","volume":"20","author":"Hatanaka","year":"2011","journal-title":"Hum. Mol. 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Soc. Trans."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1225","doi-asserted-by":"crossref","first-page":"1490","DOI":"10.1073\/pnas.0405776102","article-title":"Lack of TCF2\/vHNF1 in mice leads to pancreas agenesis","volume":"102","author":"Haumaitre","year":"2005","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1230","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1186\/1471-2350-11-86","article-title":"Association of obesity risk SNPs in PCSK1 with insulin sensitivity and proinsulin conversion","volume":"11","author":"Heni","year":"2010","journal-title":"BMC Med. 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Cell. Biol."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1320","doi-asserted-by":"crossref","first-page":"2134","DOI":"10.1038\/sj.onc.1204298","article-title":"Enhancement of p53-dependent gene activation by the transcriptional coactivator Zac1","volume":"20","author":"Huang","year":"2001","journal-title":"Oncogene"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1325","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1016\/j.yexcr.2009.01.004","article-title":"Novel P2 promoter-derived HNF4alpha isoforms with different N-terminus generated by alternate exon insertion","volume":"315","author":"Huang","year":"2009","journal-title":"Exp. Cell Res."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1330","doi-asserted-by":"crossref","first-page":"3003","DOI":"10.1089\/ars.2011.3921","article-title":"Mitochondrial mayhem: the mitochondrion as a modulator of iron metabolism and its role in disease","volume":"15","author":"Huang","year":"2011","journal-title":"Antioxid. Redox Signal."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1335","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1186\/s13046-018-0745-z","article-title":"The dysregulation of tRNAs and tRNA derivatives in cancer","volume":"37","author":"Huang","year":"2018","journal-title":"J. Exp. Clin. Cancer Res."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1340","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1003888","article-title":"tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans","volume":"9","author":"Igoillo-Esteve","year":"2013","journal-title":"PLoS Genet."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1345","doi-asserted-by":"crossref","first-page":"2274","DOI":"10.1093\/hmg\/ddu745","article-title":"Unveiling a common mechanism of apoptosis in beta-cells and neurons in Friedreich's ataxia","volume":"24","author":"Igoillo-Esteve","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1350","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.134221","article-title":"Exenatide induces frataxin expression and improves mitochondrial function in Friedreich ataxia","volume":"5","author":"Igoillo-Esteve","year":"2020","journal-title":"JCI Insight"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1355","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1186\/1471-2121-8-38","article-title":"PERK eIF2 alpha kinase is required to regulate the viability of the exocrine pancreas in mice","volume":"8","author":"Iida","year":"2007","journal-title":"BMC Cell Biol."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1360","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1038\/2441","article-title":"A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)","volume":"20","author":"Inoue","year":"1998","journal-title":"Nat. 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Chem."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1390","doi-asserted-by":"crossref","first-page":"728","DOI":"10.2337\/diacare.17.7.728","article-title":"Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness","volume":"17","author":"Jackson","year":"1994","journal-title":"Diabetes Care"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1395","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1038\/ng0797-303","article-title":"Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene","volume":"16","author":"Jackson","year":"1997","journal-title":"Nat. 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Rare Dis."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1460","first-page":"174","article-title":"Permanent neonatal diabetes mellitus: prevalence and genetic diagnosis in the SEARCH for Diabetes in Youth Study","volume":"14","author":"Kanakatti Shankar","year":"2013","journal-title":"Pediatr. Diabetes"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1465","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1053\/meta.2002.34707","article-title":"Beta-cell dysfunction in late-onset diabetic subjects carrying homozygous mutation in transcription factors NeuroD1 and Pax4","volume":"51","author":"Kanatsuka","year":"2002","journal-title":"Metabolism"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1470","doi-asserted-by":"crossref","first-page":"6366","DOI":"10.1128\/MCB.01259-09","article-title":"Transcription factor Glis3, a novel critical player in the regulation of pancreatic beta-cell development and insulin gene expression","volume":"29","author":"Kang","year":"2009","journal-title":"Mol. 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Biol. Chem."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1565","doi-asserted-by":"crossref","first-page":"13933","DOI":"10.1073\/pnas.0904744106","article-title":"GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling","volume":"106","author":"Kodo","year":"2009","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1570","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1007\/s00401-009-0589-x","article-title":"The dorsal root ganglion in Friedreich's ataxia","volume":"118","author":"Koeppen","year":"2009","journal-title":"Acta Neuropathol."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1575","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1136\/adc.82.5.407","article-title":"Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene","volume":"82","author":"Koga","year":"2000","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1580","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1016\/S0092-8674(00)80701-1","article-title":"Targeted overactivity of beta cell K(ATP) channels induces profound neonatal diabetes","volume":"100","author":"Koster","year":"2000","journal-title":"Cell"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1585","doi-asserted-by":"crossref","first-page":"2550","DOI":"10.3748\/wjg.v21.i8.2550","article-title":"Hepatic phenotypes of HNF1B gene mutations: a case of neonatal cholestasis requiring portoenterostomy and literature review","volume":"21","author":"Kotalova","year":"2015","journal-title":"World J. Gastroenterol."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1590","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1007\/s00418-016-1527-3","article-title":"Functional characterisation of the YIPF protein family in mammalian cells","volume":"147","author":"Kranjc","year":"2017","journal-title":"Histochem. 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Biol."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1650","doi-asserted-by":"crossref","first-page":"928","DOI":"10.2337\/diabetes.50.5.928","article-title":"Regulation of the pancreatic pro-endocrine gene neurogenin3","volume":"50","author":"Lee","year":"2001","journal-title":"Diabetes"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1655","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1172\/JCI119199","article-title":"Characterization of the MODY3 phenotype. Early-onset diabetes caused by an insulin secretion defect","volume":"99","author":"Lehto","year":"1997","journal-title":"J. Clin. Invest."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1660","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1665","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/j.clp.2017.10.006","article-title":"Neonatal diabetes mellitus: an update on diagnosis and management","volume":"45","author":"Lemelman","year":"2018","journal-title":"Clin. Perinatol."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1670","first-page":"1275","article-title":"Characterization of somatostatin transactivating factor-1, a novel homeobox factor that stimulates somatostatin expression in pancreatic islet cells","volume":"7","author":"Leonard","year":"1993","journal-title":"Mol. 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Aspects Med."},{"issue":"Suppl. 2","key":"10.1016\/bs.ircmb.2021.02.005_bb1735","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1111\/dom.13378","article-title":"Biosynthesis, structure, and folding of the insulin precursor protein","volume":"20","author":"Liu","year":"2018","journal-title":"Diabetes Obes. Metab."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1740","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1042\/BJ20051234","article-title":"The family feud: turning off Sp1 by Sp1-like KLF proteins","volume":"392","author":"Lomberk","year":"2005","journal-title":"Biochem. J."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1745","doi-asserted-by":"crossref","first-page":"17745","DOI":"10.1074\/jbc.M112.434670","article-title":"Kruppel-like factor 11 regulates the expression of metabolic genes via an evolutionarily conserved protein interaction domain functionally disrupted in maturity onset diabetes of the young","volume":"288","author":"Lomberk","year":"2013","journal-title":"J. Biol. Chem."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb1750","doi-asserted-by":"crossref","first-page":"E1786","DOI":"10.1210\/jc.2013-2094","article-title":"Clinical presentation and management of children with diffuse and focal hyperinsulinism: a review of 223 cases","volume":"98","author":"Lord","year":"2013","journal-title":"J. Clin. Endocrinol. 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A"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2810","doi-asserted-by":"crossref","first-page":"E2026","DOI":"10.1210\/jc.2012-1356","article-title":"Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A","volume":"97","author":"Stanescu","year":"2012","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2815","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1111\/j.1464-5491.2009.02913.x","article-title":"Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene","volume":"27","author":"Steele","year":"2010","journal-title":"Diabet. Med."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2820","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1001\/jama.2013.283980","article-title":"Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia","volume":"311","author":"Steele","year":"2014","journal-title":"JAMA"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2825","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1073\/pnas.57.2.473","article-title":"The biosynthesis of insulin and a probable precursor of insulin by a human islet cell adenoma","volume":"57","author":"Steiner","year":"1967","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2830","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1038\/sj.ejhg.5200180","article-title":"MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to xp21.1-p22.13","volume":"6","author":"Steinmuller","year":"1998","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2835","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1038\/ng2043","article-title":"A variant in CDKAL1 influences insulin response and risk of type 2 diabetes","volume":"39","author":"Steinthorsdottir","year":"2007","journal-title":"Nat. Genet."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2840","doi-asserted-by":"crossref","first-page":"13209","DOI":"10.1073\/pnas.94.24.13209","article-title":"The maturity-onset diabetes of the young (MODY1) transcription factor HNF4alpha regulates expression of genes required for glucose transport and metabolism","volume":"94","author":"Stoffel","year":"1997","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2845","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1038\/ng1097-138","article-title":"Early-onset type-II diabetes mellitus (MODY4) linked to IPF1","volume":"17","author":"Stoffers","year":"1997","journal-title":"Nat. Genet."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2850","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1038\/ng0197-106","article-title":"Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence","volume":"15","author":"Stoffers","year":"1997","journal-title":"Nat. Genet."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2855","doi-asserted-by":"crossref","DOI":"10.1016\/j.jdiacomp.2020.107618","article-title":"Monogenic and syndromic diabetes due to endoplasmic reticulum stress","volume":"35","author":"Stone","year":"2021","journal-title":"J. Diabetes Complications"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2860","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1038\/387406a0","article-title":"Pax6 is required for differentiation of glucagon-producing alpha-cells in mouse pancreas","volume":"387","author":"St-Onge","year":"1997","journal-title":"Nature"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2865","doi-asserted-by":"crossref","first-page":"15040","DOI":"10.1073\/pnas.0707291104","article-title":"Insulin gene mutations as a cause of permanent neonatal diabetes","volume":"104","author":"Stoy","year":"2007","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb9015","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1007\/s11154-010-9151-3","article-title":"Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene","volume":"11","author":"Stoy","year":"2010","journal-title":"Rev. Endocr. Metab. Disord."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2870","doi-asserted-by":"crossref","first-page":"11837","DOI":"10.1038\/s41598-020-68835-0","article-title":"Gene expression profiling identifies the role of Zac1 in cervical cancer metastasis","volume":"10","author":"Su","year":"2020","journal-title":"Sci. Rep."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2875","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a005637","article-title":"Synaptic vesicle exocytosis","volume":"3","author":"Sudhof","year":"2011","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2880","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1007\/s00592-015-0760-x","article-title":"Aberrant mRNA splicing of paired box 4 (PAX4) IVS7-1G>A mutation causing maturity-onset diabetes of the young, type 9","volume":"53","author":"Sujjitjoon","year":"2016","journal-title":"Acta Diabetol."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2885","doi-asserted-by":"crossref","first-page":"56768","DOI":"10.18632\/oncotarget.18179","article-title":"IER3IP1 deficiency leads to increased beta-cell death and decreased beta-cell proliferation","volume":"8","author":"Sun","year":"2017","journal-title":"Oncotarget"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2890","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0220805","article-title":"Sequencing reveals protective and pathogenic effects on development of diabetes of rare GLIS3 variants","volume":"14","author":"Sun","year":"2019","journal-title":"PLoS One"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2895","first-page":"785","article-title":"Identification of two novel GATA6 mutations in an adult with acute myocardial infarction, diabetes, and atrial fibrillation: a case report","volume":"16","author":"Sun","year":"2019","journal-title":"J. Geriatr. Cardiol."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2900","doi-asserted-by":"crossref","first-page":"1929","DOI":"10.1074\/jbc.M112.423137","article-title":"Transcriptional regulatory factor X6 (Rfx6) increases gastric inhibitory polypeptide (GIP) expression in enteroendocrine K-cells and is involved in GIP hypersecretion in high fat diet-induced obesity","volume":"288","author":"Suzuki","year":"2013","journal-title":"J. Biol. Chem."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2905","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.ejmg.2016.01.002","article-title":"A family with the Arg103Pro mutation in the NEUROD1 gene detected by next-generation sequencing\u2014clinical characteristics of mutation carriers","volume":"59","author":"Szopa","year":"2016","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2910","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1038\/281122a0","article-title":"A structurally abnormal insulin causing human diabetes","volume":"281","author":"Tager","year":"1979","journal-title":"Nature"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2915","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1002\/ajmg.a.20267","article-title":"Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome?","volume":"122A","author":"Taha","year":"2003","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2920","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1038\/9004","article-title":"Functional partnership between amphiphysin and dynamin in clathrin-mediated endocytosis","volume":"1","author":"Takei","year":"1999","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2925","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/S0092-8674(00)81783-3","article-title":"Specification of motor neuron identity by the MNR2 homeodomain protein","volume":"95","author":"Tanabe","year":"1998","journal-title":"Cell"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2930","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1369\/0022155419831641","article-title":"Heterogeneous expression of proinsulin processing enzymes in beta cells of non-diabetic and type 2 diabetic humans","volume":"67","author":"Teitelman","year":"2019","journal-title":"J. Histochem. Cytochem."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2935","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.2337\/diabetes.49.8.1359","article-title":"Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes","volume":"49","author":"Temple","year":"2000","journal-title":"Diabetes"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2940","doi-asserted-by":"crossref","first-page":"30253","DOI":"10.1074\/jbc.270.51.30253","article-title":"Pancreatic beta-cell-specific targeted disruption of glucokinase gene. Diabetes mellitus due to defective insulin secretion to glucose","volume":"270","author":"Terauchi","year":"1995","journal-title":"J. Biol. Chem."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2945","doi-asserted-by":"crossref","first-page":"1227","DOI":"10.1128\/MCB.20.4.1227-1233.2000","article-title":"The B-cell-specific Src-family kinase Blk is dispensable for B-cell development and activation","volume":"20","author":"Texido","year":"2000","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2950","first-page":"416","article-title":"Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy","volume":"56","author":"Thomas","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2955","doi-asserted-by":"crossref","first-page":"2089","DOI":"10.1093\/hmg\/10.19.2089","article-title":"A distant upstream promoter of the HNF-4alpha gene connects the transcription factors involved in maturity-onset diabetes of the young","volume":"10","author":"Thomas","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2960","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1007\/s00125-014-3451-1","article-title":"GLUT2, glucose sensing and glucose homeostasis","volume":"58","author":"Thorens","year":"2015","journal-title":"Diabetologia"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2965","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/S0022-3476(98)70477-9","article-title":"Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant","volume":"132","author":"Thornton","year":"1998","journal-title":"J. Pediatr."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2970","doi-asserted-by":"crossref","first-page":"2403","DOI":"10.2337\/diabetes.52.9.2403","article-title":"Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor","volume":"52","author":"Thornton","year":"2003","journal-title":"Diabetes"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2975","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1016\/j.metabol.2005.08.014","article-title":"The Arg121Trp variant in PAX4 gene is associated with beta-cell dysfunction in Japanese subjects with type 2 diabetes mellitus","volume":"55","author":"Tokuyama","year":"2006","journal-title":"Metabolism"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2980","doi-asserted-by":"crossref","first-page":"6224","DOI":"10.1210\/jc.2004-1233","article-title":"Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity","volume":"89","author":"Tornovsky","year":"2004","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2985","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1016\/j.molmed.2014.01.008","article-title":"Role of tRNA modifications in human diseases","volume":"20","author":"Torres","year":"2014","journal-title":"Trends Mol. Med."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2990","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1007\/s00592-018-1239-3","article-title":"Transient neonatal diabetes mellitus and hypomethylation at additional imprinted loci: novel ZFP57 mutation and review on the literature","volume":"56","author":"Touati","year":"2019","journal-title":"Acta Diabetol."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb2995","doi-asserted-by":"crossref","first-page":"9132","DOI":"10.1021\/bi1013062","article-title":"Human frataxin is an allosteric switch that activates the Fe-S cluster biosynthetic complex","volume":"49","author":"Tsai","year":"2010","journal-title":"Biochemistry"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb3000","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1126\/science.1201396","article-title":"Selective inhibition of a regulatory subunit of protein phosphatase 1 restores proteostasis","volume":"332","author":"Tsaytler","year":"2011","journal-title":"Science"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb3005","doi-asserted-by":"crossref","first-page":"1032","DOI":"10.1002\/(SICI)1096-9136(199712)14:12<1032::AID-DIA504>3.0.CO;2-Y","article-title":"Screening of patients with maternally transmitted diabetes for mitochondrial gene mutations in the tRNA[Leu(UUR)] region","volume":"14","author":"Tsukuda","year":"1997","journal-title":"Diabet. Med."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb3010","first-page":"929","article-title":"Pax-QNR\/Pax-6, a paired box- and homeobox-containing gene expressed in neurons, is also expressed in pancreatic endocrine cells","volume":"8","author":"Turque","year":"1994","journal-title":"Mol. Endocrinol."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb3015","first-page":"147","article-title":"A Turkish newborn infant with cerebellar agenesis\/neonatal diabetes mellitus and PTF1A mutation","volume":"20","author":"Tutak","year":"2009","journal-title":"Genet. Couns."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb3020","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.2147\/DMSO.S179793","article-title":"Maturity-onset diabetes of the young (MODY): current perspectives on diagnosis and treatment","volume":"12","author":"Urakami","year":"2019","journal-title":"Diabetes Metab. Syndr. Obes."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb3025","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1016\/j.ejmg.2017.07.007","article-title":"Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature","volume":"60","author":"Valenzuela","year":"2017","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb3030","doi-asserted-by":"crossref","first-page":"110","DOI":"10.2478\/enr-2019-0013","article-title":"Novel insights into genetics and clinics of the HNF1A-MODY","volume":"53","author":"Valkovicova","year":"2019","journal-title":"Endocr. Regul."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb3035","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1080\/19382014.2016.1182276","article-title":"Insights into islet development and biology through characterization of a human iPSC-derived endocrine pancreas model","volume":"8","author":"Van De Bunt","year":"2016","journal-title":"Islets"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb3040","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1038\/ng0892-368","article-title":"Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness","volume":"1","author":"Van Den Ouweland","year":"1992","journal-title":"Nat. Genet."},{"issue":"Suppl. 1","key":"10.1016\/bs.ircmb.2021.02.005_bb3045","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1111\/jnc.12215","article-title":"Prevalence gradients of Friedreich's ataxia and R1b haplotype in Europe co-localize, suggesting a common Palaeolithic origin in the Franco-Cantabrian ice age refuge","volume":"126","author":"Vankan","year":"2013","journal-title":"J. Neurochem."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb3050","doi-asserted-by":"crossref","first-page":"2719","DOI":"10.2337\/diabetes.53.10.2719","article-title":"Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients","volume":"53","author":"Vaxillaire","year":"2004","journal-title":"Diabetes"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb3055","doi-asserted-by":"crossref","first-page":"1286","DOI":"10.1172\/JCI4495","article-title":"Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia","volume":"102","author":"Verkarre","year":"1998","journal-title":"J. Clin. Invest."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb3060","doi-asserted-by":"crossref","first-page":"6157","DOI":"10.1093\/nar\/gkaa353","article-title":"Functional characterization of the human tRNA methyltransferases TRMT10A and TRMT10B","volume":"48","author":"Vilardo","year":"2020","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb3065","doi-asserted-by":"crossref","first-page":"448","DOI":"10.2337\/db17-0364","article-title":"GATA6 controls insulin biosynthesis and secretion in adult beta-cells","volume":"67","author":"Villamayor","year":"2018","journal-title":"Diabetes"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb3070","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1038\/356721a0","article-title":"Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus","volume":"356","author":"Vionnet","year":"1992","journal-title":"Nature"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb3075","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1016\/j.ajhg.2020.05.017","article-title":"De novo variants in CNOT1, a central component of the CCR4-NOT complex involved in gene expression and RNA and protein stability, cause neurodevelopmental delay","volume":"107","author":"Vissers","year":"2020","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb3080","doi-asserted-by":"crossref","first-page":"117","DOI":"10.17116\/terarkh2016884117-124","article-title":"Molecular genetics of maturity-onset diabetes of the young","volume":"88","author":"Voevoda","year":"2016","journal-title":"Ter. Arkh."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb3085","doi-asserted-by":"crossref","first-page":"1393","DOI":"10.1111\/j.1464-5491.2007.02285.x","article-title":"Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy","volume":"24","author":"Wabitsch","year":"2007","journal-title":"Diabet. Med."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb3090","doi-asserted-by":"crossref","first-page":"1435","DOI":"10.1242\/dev.113.4.1435","article-title":"Pax-6, a murine paired box gene, is expressed in the developing CNS","volume":"113","author":"Walther","year":"1991","journal-title":"Development"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb3095","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1172\/JCI4431","article-title":"A mutation in the insulin 2 gene induces diabetes with severe pancreatic beta-cell dysfunction in the Mody mouse","volume":"103","author":"Wang","year":"1999","journal-title":"J. Clin. Invest."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb3100","doi-asserted-by":"crossref","first-page":"35953","DOI":"10.1074\/jbc.M006612200","article-title":"Hepatocyte nuclear factor 4alpha regulates the expression of pancreatic beta -cell genes implicated in glucose metabolism and nutrient-induced insulin secretion","volume":"275","author":"Wang","year":"2000","journal-title":"J. Biol. Chem."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb3105","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1016\/j.ydbio.2003.10.018","article-title":"The concerted activities of Pax4 and Nkx2.2 are essential to initiate pancreatic beta-cell differentiation","volume":"266","author":"Wang","year":"2004","journal-title":"Dev. Biol."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb3110","doi-asserted-by":"crossref","first-page":"3941","DOI":"10.1210\/en.2004-0281","article-title":"Selective deletion of the Hnf1beta (MODY5) gene in beta-cells leads to altered gene expression and defective insulin release","volume":"145","author":"Wang","year":"2004","journal-title":"Endocrinology"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb3115","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1007\/s00125-006-0490-2","article-title":"MAFA controls genes implicated in insulin biosynthesis and secretion","volume":"50","author":"Wang","year":"2007","journal-title":"Diabetologia"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb3120","doi-asserted-by":"crossref","first-page":"2281","DOI":"10.1111\/j.1582-4934.2008.00427.x","article-title":"Pax genes in embryogenesis and oncogenesis","volume":"12","author":"Wang","year":"2008","journal-title":"J. Cell. Mol. Med."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb3125","doi-asserted-by":"crossref","first-page":"4770","DOI":"10.1093\/hmg\/ddu193","article-title":"Cisd2 modulates the differentiation and functioning of adipocytes by regulating intracellular Ca2+ homeostasis","volume":"23","author":"Wang","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb3130","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.3109\/10715762.2014.936431","article-title":"Cisd2 mediates lifespan: is there an interconnection among Ca(2)(+) homeostasis, autophagy, and lifespan?","volume":"48","author":"Wang","year":"2014","journal-title":"Free Radic. Res."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb3135","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1038\/nature12730","article-title":"N6-methyladenosine-dependent regulation of messenger RNA stability","volume":"505","author":"Wang","year":"2014","journal-title":"Nature"},{"key":"10.1016\/bs.ircmb.2021.02.005_bb3140","doi-asserted-by":"crossref","first-page":"21029","DOI":"10.1074\/jbc.M116.739482","article-title":"A deafness- and diabetes-associated tRNA mutation causes deficient pseudouridinylation at position 55 in tRNAGlu and mitochondrial dysfunction","volume":"291","author":"Wang","year":"2016","journal-title":"J. Biol. Chem."},{"key":"10.1016\/bs.ircmb.2021.02.005_bb3145","doi-asserted-by":"crossref","first-page":"1915","DOI":"10.1083\/jcb.201708007","article-title":"Superoxide dismutases: dual roles in controlling ROS damage and regulating ROS signaling","volume":"217","author":"Wang","year":"2018","journal-title":"J. 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