List of works - Martijn van de Bunt

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

scientific article published on 24 March 2017

A tale of two glucose transporters: how GLUT2 re-emerged as a contender for glucose transport into the human beta cell

scientific article published on 15 June 2012

An alternative effector gene at the type 2 diabetes-associated TCF7L2 locus?

scientific article published on 14 September 2016

Argonaute2 mediates compensatory expansion of the pancreatic β cell

scientific article

Characterising cis-regulatory variation in the transcriptome of histologically normal and tumour-derived pancreatic tissues

scientific article published on 20 June 2017

Colocalization of GWAS and eQTL Signals Detects Target Genes

scientific article

Decreased STARD10 Expression Is Associated with Defective Insulin Secretion in Humans and Mice

scientific article

Discovery and Fine-Mapping of Glycaemic and Obesity-Related Trait Loci Using High-Density Imputation

scientific article

Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans

scientific article

Electrophysiological properties of human beta-cell lines EndoC-βH1 and -βH2 conform with human beta-cells

scientific article published in Scientific Reports

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

scientific article published on 23 January 2018

Evaluating the Performance of Fine-Mapping Strategies at Common Variant GWAS Loci

scientific article published on 25 September 2015

Extent, causes, and consequences of small RNA expression variation in human adipose tissue

scientific article

From Genetic Association to Molecular Mechanism ⬇️

scientific article published on December 1, 2010

GLUT2 (SLC2A2) is not the principal glucose transporter in human pancreatic beta cells: implications for understanding genetic association signals at this locus

scientific article

Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans

scientific article published on 5 March 2008

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

scientific article

Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach

scientific article published in June 2008

Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy.

scientific article published in November 2007

Human islet function following 20 years of cryogenic biobanking

scientific article published on May 2015

Human β cell transcriptome analysis uncovers lncRNAs that are tissue-specific, dynamically regulated, and abnormally expressed in type 2 diabetes

scientific article

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia

scientific article

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 humans

scientific article published on May 2009

Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease

scientific article

Improved detection of common variants associated with schizophrenia by leveraging pleiotropy with cardiovascular-disease risk factors

scientific article

Insights into islet development and biology through characterization of a human iPSC-derived endocrine pancreas model

scientific article published on April 2016

Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis

scientific journal article

Integration of human pancreatic islet genomic data refines regulatory mechanisms at Type 2 Diabetes susceptibility loci.

scientific article published on 7 February 2018

Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance.

scientific article

Integrative network analysis highlights biological processes underlying GLP-1 stimulated insulin secretion: A DIRECT study

scientific article published on 2 January 2018

Isocitrate-to-SENP1 signaling amplifies insulin secretion and rescues dysfunctional β cells

scientific article

Loss of ZnT8 function protects against diabetes by enhanced insulin secretion

scientific article published on 01 November 2019

Monogenic disorders of the pancreatic β-cell: personalizing treatment for rare forms of diabetes and hypoglycemia

scientific article published on 01 August 2007

Mutations in HHEX are not a common cause of monogenic forms of beta cell dysfunction.

scientific article published on 6 July 2007

PTEN mutations as a cause of constitutive insulin sensitivity and obesity.

scientific article

Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants

scientific article

Patterns of differential gene expression in a cellular model of human islet development, and relationship to type 2 diabetes predisposition.

scientific article published on 19 April 2018

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability

scientific article

Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.

scientific article published on 11 November 2008

Reduced Insulin Production Relieves Endoplasmic Reticulum Stress and Induces β Cell Proliferation

scientific article

SSTR2 is the functionally dominant somatostatin receptor in human pancreatic β- and α-cells

scientific article

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

scientific article published on 19 December 2017

Systematic Functional Characterization of Candidate Causal Genes for Type 2 Diabetes Risk Variants.

scientific article

The genetic architecture of type 2 diabetes

scientific article (publication date: 11 July 2016)

The miRNA profile of human pancreatic islets and beta-cells and relationship to type 2 diabetes pathogenesis

scientific article

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

scientific article

Understanding human fetal pancreas development using subpopulation sorting, RNA sequencing and single-cell profiling

scientific article published on 15 August 2018

Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation

article

List of works by Martijn van de Bunt

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

A tale of two glucose transporters: how GLUT2 re-emerged as a contender for glucose transport into the human beta cell

An alternative effector gene at the type 2 diabetes-associated TCF7L2 locus?

Argonaute2 mediates compensatory expansion of the pancreatic β cell

Characterising cis-regulatory variation in the transcriptome of histologically normal and tumour-derived pancreatic tissues

Colocalization of GWAS and eQTL Signals Detects Target Genes

Decreased STARD10 Expression Is Associated with Defective Insulin Secretion in Humans and Mice

Discovery and Fine-Mapping of Glycaemic and Obesity-Related Trait Loci Using High-Density Imputation

Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans

Electrophysiological properties of human beta-cell lines EndoC-βH1 and -βH2 conform with human beta-cells

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Evaluating the Performance of Fine-Mapping Strategies at Common Variant GWAS Loci

Extent, causes, and consequences of small RNA expression variation in human adipose tissue

From Genetic Association to Molecular Mechanism ⬇️

GLUT2 (SLC2A2) is not the principal glucose transporter in human pancreatic beta cells: implications for understanding genetic association signals at this locus

Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach

Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy.

Human islet function following 20 years of cryogenic biobanking

Human β cell transcriptome analysis uncovers lncRNAs that are tissue-specific, dynamically regulated, and abnormally expressed in type 2 diabetes

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia

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 humans

Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease

Improved detection of common variants associated with schizophrenia by leveraging pleiotropy with cardiovascular-disease risk factors

Insights into islet development and biology through characterization of a human iPSC-derived endocrine pancreas model

Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis

Integration of human pancreatic islet genomic data refines regulatory mechanisms at Type 2 Diabetes susceptibility loci.

Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance.

Integrative network analysis highlights biological processes underlying GLP-1 stimulated insulin secretion: A DIRECT study

Isocitrate-to-SENP1 signaling amplifies insulin secretion and rescues dysfunctional β cells

Loss of ZnT8 function protects against diabetes by enhanced insulin secretion

Loss of ZnT8 function protects against diabetes by enhanced insulin secretion

Monogenic disorders of the pancreatic β-cell: personalizing treatment for rare forms of diabetes and hypoglycemia

Mutations in HHEX are not a common cause of monogenic forms of beta cell dysfunction.

PTEN mutations as a cause of constitutive insulin sensitivity and obesity.

Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants

Patterns of differential gene expression in a cellular model of human islet development, and relationship to type 2 diabetes predisposition.

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability

Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.

Reduced Insulin Production Relieves Endoplasmic Reticulum Stress and Induces β Cell Proliferation

SSTR2 is the functionally dominant somatostatin receptor in human pancreatic β- and α-cells

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Systematic Functional Characterization of Candidate Causal Genes for Type 2 Diabetes Risk Variants.

The genetic architecture of type 2 diabetes

The miRNA profile of human pancreatic islets and beta-cells and relationship to type 2 diabetes pathogenesis

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

Understanding human fetal pancreas development using subpopulation sorting, RNA sequencing and single-cell profiling

Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation