Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.

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Published in Endocr Rev on April 01, 2016

Authors

Yisheng Yang1, Lawrence Chan1

Author Affiliations

1: Division of Endocrinology (Y.Y.), Department of Medicine, MetroHealth Medical Center, Case Western Reserve University, Cleveland, Ohio 44109; and Diabetes and Endocrinology Research Center (L.C.), Division of Diabetes, Endocrinology and Metabolism, Departments of Medicine, Molecular and Cellular Biology, Biochemistry and Molecular Biology, and Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030.

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Dual roles for glucokinase in glucose homeostasis as determined by liver and pancreatic beta cell-specific gene knock-outs using Cre recombinase. J Biol Chem (1999) 10.14

Insulin-promoter-factor 1 is required for pancreas development in mice. Nature (1994) 10.13

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med (2004) 8.62

Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes. Diabetes (2003) 8.19

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med (2006) 7.31

A map of open chromatin in human pancreatic islets. Nat Genet (2010) 6.75

Diabetes and cancer: a consensus report. Diabetes Care (2010) 6.71

Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension. Nature (2000) 5.86

Diabetes, defective pancreatic morphogenesis, and abnormal enteroendocrine differentiation in BETA2/neuroD-deficient mice. Genes Dev (1997) 5.66

Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. Nat Genet (1997) 5.47

Towards a structural basis of human non-synonymous single nucleotide polymorphisms. Trends Genet (2000) 5.41

beta-cell-specific inactivation of the mouse Ipf1/Pdx1 gene results in loss of the beta-cell phenotype and maturity onset diabetes. Genes Dev (1998) 5.25

Anti-diabetic drugs inhibit obesity-linked phosphorylation of PPARgamma by Cdk5. Nature (2010) 5.01

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. N Engl J Med (2006) 4.88

The Pax4 gene is essential for differentiation of insulin-producing beta cells in the mammalian pancreas. Nature (1997) 4.69

Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. Nat Genet (2011) 4.50

Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. Nat Genet (1997) 4.40

The role of inflammation in insulitis and beta-cell loss in type 1 diabetes. Nat Rev Endocrinol (2009) 4.36

Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity. Diabetologia (2005) 4.17

Maturity-onset diabetes of the young (MODY): how many cases are we missing? Diabetologia (2010) 4.13

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat Genet (2014) 4.13

Beta cell replication is the primary mechanism for maintaining postnatal beta cell mass. J Clin Invest (2004) 4.12

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. Diabetes (2010) 4.07

Tissue-specific regulation of the insulin gene by a novel basic helix-loop-helix transcription factor. Genes Dev (1995) 4.07

Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome. Cell (1996) 4.05

Opposing actions of Arx and Pax4 in endocrine pancreas development. Genes Dev (2003) 4.00

A mutation in the insulin 2 gene induces diabetes with severe pancreatic beta-cell dysfunction in the Mody mouse. J Clin Invest (1999) 3.86

Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes. Diabetes (2007) 3.84

Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes (2007) 3.82

Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes. Nat Clin Pract Endocrinol Metab (2008) 3.80

Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci U S A (2007) 3.77

Disruption of the HNF-4 gene, expressed in visceral endoderm, leads to cell death in embryonic ectoderm and impaired gastrulation of mouse embryos. Genes Dev (1994) 3.76

PPARγ signaling and metabolism: the good, the bad and the future. Nat Med (2013) 3.71

Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus. Nat Genet (1997) 3.62

Common variants in WFS1 confer risk of type 2 diabetes. Nat Genet (2007) 3.58

Cyclins D2 and D1 are essential for postnatal pancreatic beta-cell growth. Mol Cell Biol (2005) 3.50

On the origin of the beta cell. Genes Dev (2008) 3.34

Etiology of type 1 diabetes. Immunity (2010) 3.28

Liver-enriched transcription factors and hepatocyte differentiation. FASEB J (1996) 3.18

Fibroblast growth factor-21 regulates PPARγ activity and the antidiabetic actions of thiazolidinediones. Cell (2012) 3.07

Genetic prediction of future type 2 diabetes. PLoS Med (2005) 2.98

Early diabetes and abnormal postnatal pancreatic islet development in mice lacking Glut-2. Nat Genet (1997) 2.97

Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. Nat Genet (2006) 2.95

Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nat Genet (1999) 2.80

Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. Am J Hum Genet (2012) 2.53

Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region. Diabetes (2004) 2.52

A transcription factor regulatory circuit in differentiated pancreatic cells. Proc Natl Acad Sci U S A (2001) 2.47

Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans. Diabetes (2010) 2.44

Genetic variation near the hepatocyte nuclear factor-4 alpha gene predicts susceptibility to type 2 diabetes. Diabetes (2004) 2.43

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Mitochondrial dysfunction in diabetes: from molecular mechanisms to functional significance and therapeutic opportunities. Antioxid Redox Signal (2010) 2.11

Variant hepatocyte nuclear factor 1 is required for visceral endoderm specification. Development (1999) 2.08

Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat (2009) 2.07

The role of mitochondria in insulin resistance and type 2 diabetes mellitus. Nat Rev Endocrinol (2011) 2.02

A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1. Lancet (2003) 2.02

Transgenic knockouts reveal a critical requirement for pancreatic beta cell glucokinase in maintaining glucose homeostasis. Cell (1995) 1.99

A structurally abnormal insulin causing human diabetes. Nature (1979) 1.99

The simultaneous loss of Arx and Pax4 genes promotes a somatostatin-producing cell fate specification at the expense of the alpha- and beta-cell lineages in the mouse endocrine pancreas. Development (2005) 1.98

Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. J Clin Invest (2000) 1.97

Molecular scanning of the human peroxisome proliferator activated receptor gamma (hPPAR gamma) gene in diabetic Caucasians: identification of a Pro12Ala PPAR gamma 2 missense mutation. Biochem Biophys Res Commun (1997) 1.96

Insulin as an autoantigen in NOD/human diabetes. Curr Opin Immunol (2008) 1.95

Maternal diet and aging alter the epigenetic control of a promoter-enhancer interaction at the Hnf4a gene in rat pancreatic islets. Proc Natl Acad Sci U S A (2011) 1.95

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Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus. J Clin Invest (1999) 1.89

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. Hum Mutat (2006) 1.88

Pancreatic beta cells require NeuroD to achieve and maintain functional maturity. Cell Metab (2010) 1.88

Pancreas-specific deletion of beta-catenin reveals Wnt-dependent and Wnt-independent functions during development. Curr Biol (2005) 1.87

Defective insulin secretion in hepatocyte nuclear factor 1alpha-deficient mice. J Clin Invest (1998) 1.86

A PPARγ-FGF1 axis is required for adaptive adipose remodelling and metabolic homeostasis. Nature (2012) 1.85

Pdx1 (MODY4) regulates pancreatic beta cell susceptibility to ER stress. Proc Natl Acad Sci U S A (2009) 1.84

The peroxisome proliferator-activated receptor-gamma2 Pro12Ala polymorphism. Diabetes (2002) 1.84

A common polymorphism in the upstream promoter region of the hepatocyte nuclear factor-4 alpha gene on chromosome 20q is associated with type 2 diabetes and appears to contribute to the evidence for linkage in an ashkenazi jewish population. Diabetes (2004) 1.83

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. Hum Mol Genet (2006) 1.83

Peroxisome proliferator-activated receptors and their ligands: nutritional and clinical implications--a review. Nutr J (2014) 1.82

Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations. J Clin Invest (1994) 1.82

Genetics of type 1 diabetes: what's next? Diabetes (2010) 1.80

Human and rat beta cells differ in glucose transporter but not in glucokinase gene expression. J Clin Invest (1995) 1.79

Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia. JAMA (2014) 1.79

The MODY1 gene HNF-4alpha regulates selected genes involved in insulin secretion. J Clin Invest (2005) 1.78

A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. Am J Hum Genet (2007) 1.77

Attenuated Wnt signaling perturbs pancreatic growth but not pancreatic function. Diabetes (2005) 1.75

Screening of 134 single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes replicates association with 12 SNPs in nine genes. Diabetes (2007) 1.74

The islet beta cell-enriched MafA activator is a key regulator of insulin gene transcription. J Biol Chem (2005) 1.73