List of works - Anna Gloyn

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

scientific article

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

scientific article

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

scientific article

The genetic architecture of type 2 diabetes

scientific article (publication date: 11 July 2016)

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

scientific article published in February 2003

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

scientific article

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

scientific article

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

scientific article

Mutations in PTF1A cause pancreatic and cerebellar agenesis

scientific article

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia

scientific article

Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes

scientific article

Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy

scientific article published in October 2004

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

scientific article

The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver

scientific article published on 30 July 2009

Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

scientific article published on 08 October 2018

Global microRNA expression profiles in insulin target tissues in a spontaneous rat model of type 2 diabetes.

scientific article published on 3 March 2010

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

scientific article published on February 2009

Reduced insulin exocytosis in human pancreatic β-cells with gene variants linked to type 2 diabetes

scientific article

Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood

article

Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features

scientific article

Glucokinase (GCK) mutations in hyper- and hypoglycemia: Maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy

scientific article published on November 1, 2003

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

scientific article

A genome-wide association search for type 2 diabetes genes in African Americans

scientific article published on 4 January 2012

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

scientific article

Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients

scientific article published in October 2004

Role of KATP channels in glucose-regulated glucagon secretion and impaired counterregulation in type 2 diabetes

scientific article published on December 2013

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

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes

scientific article published in January 2005

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

scientific article

Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations

scientific article

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

scientific article

A putative functional polymorphism in the IGF-I gene: association studies with type 2 diabetes, adult height, glucose tolerance, and fetal growth in U.K. populations

scientific article published in July 2002

A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome

scientific article

Assessment of high-sensitivity C-reactive protein levels as diagnostic discriminator of maturity-onset diabetes of the young due to HNF1A mutations

scientific article

Argonaute2 mediates compensatory expansion of the pancreatic β cell

scientific article

Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus

scientific article

Comprehensive human adipose tissue mRNA and microRNA endogenous control selection for quantitative real-time-PCR normalization

scientific article

Coexpression 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

scientific article

Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism

scientific article

Insights into the molecular mechanism for type 2 diabetes susceptibility at the KCNQ1 locus from temporal changes in imprinting status in human islets.

scientific article published on 8 November 2012

Cellular characterisation of the GCKR P446L variant associated with type 2 diabetes risk.

scientific article

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features

scientific article published on 3 May 2006

A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes.

scientific article

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

scientific article

High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes

scientific article

Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation

scientific article published on July 2015

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

scientific article

Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young

scientific article

Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel

scientific article

Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation

scientific article published in May 2008

List of works by Anna Gloyn

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

The genetic architecture of type 2 diabetes

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

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

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

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

Mutations in PTF1A cause pancreatic and cerebellar agenesis

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia

Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes

Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy

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

The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver

Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

Global microRNA expression profiles in insulin target tissues in a spontaneous rat model of type 2 diabetes.

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

Reduced insulin exocytosis in human pancreatic β-cells with gene variants linked to type 2 diabetes

Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood

Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features

Glucokinase (GCK) mutations in hyper- and hypoglycemia: Maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy

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

A genome-wide association search for type 2 diabetes genes in African Americans

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

Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients

Role of KATP channels in glucose-regulated glucagon secretion and impaired counterregulation in type 2 diabetes

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

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations

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

A putative functional polymorphism in the IGF-I gene: association studies with type 2 diabetes, adult height, glucose tolerance, and fetal growth in U.K. populations

A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome

Assessment of high-sensitivity C-reactive protein levels as diagnostic discriminator of maturity-onset diabetes of the young due to HNF1A mutations

Argonaute2 mediates compensatory expansion of the pancreatic β cell

Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus

Comprehensive human adipose tissue mRNA and microRNA endogenous control selection for quantitative real-time-PCR normalization

Coexpression 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

Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism

Insights into the molecular mechanism for type 2 diabetes susceptibility at the KCNQ1 locus from temporal changes in imprinting status in human islets.

Cellular characterisation of the GCKR P446L variant associated with type 2 diabetes risk.

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features

A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes.

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

High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes

Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation

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

Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young

Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel

Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation