about
Mutations in PTF1A cause pancreatic and cerebellar agenesisInsights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutationsMolecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological featuresActivating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetesTwelve type 2 diabetes susceptibility loci identified through large-scale association analysisGenome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetesGenome-edited human stem cell-derived beta cells: a powerful tool for drilling down on type 2 diabetes GWAS biologyInsights into metabolic disease from studying genetics in isolated populations: stories from Greece to GreenlandCoexpression of the type 2 diabetes susceptibility gene variants KCNJ11 E23K and ABCC8 S1369A alter the ATP and sulfonylurea sensitivities of the ATP-sensitive K(+) channel.Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cisNew genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes riskMutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinismMetabolic profiling in Maturity-onset diabetes of the young (MODY) and young onset type 2 diabetes fails to detect robust urinary biomarkersA panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human diseaseA genome-wide association search for type 2 diabetes genes in African AmericansA role for coding functional variants in HNF4A in type 2 diabetes susceptibilityHuman genetics as a model for target validation: finding new therapies for diabetes.Bridging the gap between genetic associations and molecular mechanisms for type 2 diabetes.Systematic Functional Characterization of Candidate Causal Genes for Type 2 Diabetes Risk Variants.Argonaute2 mediates compensatory expansion of the pancreatic β cell.Human β cell transcriptome analysis uncovers lncRNAs that are tissue-specific, dynamically regulated, and abnormally expressed in type 2 diabetesSpecies-specific differences in the expression of the HNF1A, HNF1B and HNF4A genes.Transcript Expression Data from Human Islets Links Regulatory Signals from Genome-Wide Association Studies for Type 2 Diabetes and Glycemic Traits to Their Downstream Effectors.Human calcium/calmodulin-dependent protein kinase II gamma gene (CAMK2G): cloning, genomic structure and detection of variants in subjects with type II diabetes.Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to type 2 diabetes.Naturally occurring glucokinase mutations are associated with defects in posttranslational S-nitrosylation.Evaluation of serum 1,5 anhydroglucitol levels as a clinical test to differentiate subtypes of diabetesPTEN mutations as a cause of constitutive insulin sensitivity and obesity.Analysis of the co-operative interaction between the allosterically regulated proteins GK and GKRP using tryptophan fluorescenceCellular characterisation of the GCKR P446L variant associated with type 2 diabetes risk.Assessment of high-sensitivity C-reactive protein levels as diagnostic discriminator of maturity-onset diabetes of the young due to HNF1A mutations.A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome.A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes.Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families.GLUT2 (SLC2A2) is not the principal glucose transporter in human pancreatic beta cells: implications for understanding genetic association signals at this locus.Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.Reclassification of diabetes etiology in a family with multiple diabetes phenotypesPancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants.
P50
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P50
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Anna Gloyn
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Anna Gloyn
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Anna Gloyn
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Anna Gloyn
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Anna Gloyn
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Anna Gloyn
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Anna Gloyn
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Anna Gloyn
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P214
P244
P106
P166
P2080
P21
P214
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n2014184082
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P496
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P7859
lccn-n2014184082