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Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cisDiscovery and Fine-Mapping of Glycaemic and Obesity-Related Trait Loci Using High-Density ImputationThe genetic architecture of type 2 diabetesSystematic 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 diabetesTranscript Expression Data from Human Islets Links Regulatory Signals from Genome-Wide Association Studies for Type 2 Diabetes and Glycemic Traits to Their Downstream Effectors.PTEN mutations as a cause of constitutive insulin sensitivity and obesity.GLUT2 (SLC2A2) is not the principal glucose transporter in human pancreatic beta cells: implications for understanding genetic association signals at this locus.Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.Extent, causes, and consequences of small RNA expression variation in human adipose tissue.Improved detection of common variants associated with schizophrenia by leveraging pleiotropy with cardiovascular-disease risk factors.Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants.Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility lociPhenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.The miRNA profile of human pancreatic islets and beta-cells and relationship to type 2 diabetes pathogenesis.Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humansIdentification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.Human islet function following 20 years of cryogenic biobanking.Evaluating the Performance of Fine-Mapping Strategies at Common Variant GWAS Loci.Isocitrate-to-SENP1 signaling amplifies insulin secretion and rescues dysfunctional β cellsSSTR2 is the functionally dominant somatostatin receptor in human pancreatic β- and α-cells.Insights into islet development and biology through characterization of a human iPSC-derived endocrine pancreas model.Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humansColocalization of GWAS and eQTL Signals Detects Target Genes.From genetic association to molecular mechanism.Reduced Insulin Production Relieves Endoplasmic Reticulum Stress and Induces β Cell Proliferation.Characterising cis-regulatory variation in the transcriptome of histologically normal and tumour-derived pancreatic tissues.A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk.Decreased STARD10 Expression Is Associated with Defective Insulin Secretion in Humans and MiceIntegrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance.Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans.Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy.Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.Integrative network analysis highlights biological processes underlying GLP-1 stimulated insulin secretion: A DIRECT study.Integration of human pancreatic islet genomic data refines regulatory mechanisms at Type 2 Diabetes susceptibility loci.Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.Mutations in HHEX are not a common cause of monogenic forms of beta cell dysfunction.Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach.A tale of two glucose transporters: how GLUT2 re-emerged as a contender for glucose transport into the human beta cell.
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Martijn van de Bunt
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Martijn van de Bunt
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Martijn van de Bunt
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Martijn van de Bunt
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Martijn van de Bunt
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Martijn van de Bunt
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Martijn van de Bunt
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Martijn van de Bunt
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Martijn van de Bunt
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Martijn van de Bunt
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Martijn van de Bunt
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Martijn van de Bunt
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Martijn van de Bunt
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Martijn van de Bunt
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P1960
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P31
P496
0000-0002-6744-6125