List of works - Anna Gloyn

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

scientific article

Type 2 diabetes susceptibility gene TCF7L2 and its role in beta-cell function

scientific article published in April 2009

Species-specific differences in the expression of the HNF1A, HNF1B and HNF4A genes

scientific article

Glucokinase regulatory protein: complexity at the crossroads of triglyceride and glucose metabolism

scientific article published on April 2015

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

scientific article published on 7 February 2018

Mutations in HNF1A result in marked alterations of plasma glycan profile

scientific article published on 28 December 2012

The genetics of type 2 diabetes

article

Permanent neonatal diabetes in an Asian infant.

scientific article

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

Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes

scientific article published on 19 December 2011

Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy

scientific article published on 6 March 2008

Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings

scientific article published on 27 February 2007

Loss-of-Function Mutations in the Cell-Cycle Control Gene CDKN2A Impact on Glucose Homeostasis in Humans.

scientific article

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY)

scientific article published on 01 November 2003

Maturity-onset diabetes of the young caused by a balanced translocation where the 20q12 break point results in disruption upstream of the coding region of hepatocyte nuclear factor-4alpha (HNF4A) gene

scientific article published in July 2002

The search for type 2 diabetes genes

scientific article

From Genetic Association to Molecular Mechanism

scientific article published on December 1, 2010

Evaluation of serum 1,5 anhydroglucitol levels as a clinical test to differentiate subtypes of diabetes

scientific article

Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.

scientific article published on 11 November 2008

A role for coding functional variants in HNF4A in type 2 diabetes susceptibility

scientific article (publication date: 2011)

Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism

scientific article published on 31 August 2009

Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition

scientific article

Activating Mutations in the KCNJ11 Gene Encoding the ATP-Sensitive K+ Channel Subunit Kir6.2 Are Rare in Clinically Defined Type 1 Diabetes Diagnosed Before 2 Years

article

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes

scientific article published on 01 February 2002

Naturally occurring glucokinase mutations are associated with defects in posttranslational S-nitrosylation

scientific article

Variation across the allele frequency spectrum

scientific article published on 01 August 2010

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

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

scientific article

Prioritising Causal Genes at Type 2 Diabetes Risk Loci

scientific article

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

scientific article published on 15 August 2018

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

Human islet function following 20 years of cryogenic biobanking

scientific article published on May 2015

Defining the genetic aetiology of monogenic diabetes can improve treatment

scientific article published on September 2006

The pancreatic β cell: recent insights from human genetics

scientific article published on June 28, 2014

Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families

scientific article

Analysis of the co-operative interaction between the allosterically regulated proteins GK and GKRP using tryptophan fluorescence

scientific article

TCF7L2 and Diabetes: A Tale of Two Tissues, and of Two Species

scientific article published on 01 February 2013

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

Small molecular glucokinase activators: has another new anti-diabetic therapeutic lost favour?

scientific article published on January 2013

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

scientific article published on April 2016

Cell biology assessment of glucokinase mutations V62M and G72R in pancreatic beta-cells: evidence for cellular instability of catalytic activity

scientific article

Precision medicine in the management of type 2 diabetes

scientific article published on 23 April 2018

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

scientific article

NKX6.1 induced pluripotent stem cell reporter lines for isolation and analysis of functionally relevant neuronal and pancreas populations

scientific article published on 23 April 2018

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

scientific article published in May 2010

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.

scientific article

Asian MODY: are we missing an important diagnosis?

article

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

scientific article

Human genetics as a model for target validation: finding new therapies for diabetes

scientific article

A Partial Loss-of-Function Variant in AKT2 Is Associated With Reduced Insulin-Mediated Glucose Uptake in Multiple Insulin-Sensitive Tissues: A Genotype-Based Callback Positron Emission Tomography Study

scientific article published on 15 November 2017

List of works by Anna Gloyn

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

Type 2 diabetes susceptibility gene TCF7L2 and its role in beta-cell function

Species-specific differences in the expression of the HNF1A, HNF1B and HNF4A genes

Glucokinase regulatory protein: complexity at the crossroads of triglyceride and glucose metabolism

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

Mutations in HNF1A result in marked alterations of plasma glycan profile

The genetics of type 2 diabetes

Permanent neonatal diabetes in an Asian infant.

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

Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes

Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy

Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings

Loss-of-Function Mutations in the Cell-Cycle Control Gene CDKN2A Impact on Glucose Homeostasis in Humans.

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY)

Maturity-onset diabetes of the young caused by a balanced translocation where the 20q12 break point results in disruption upstream of the coding region of hepatocyte nuclear factor-4alpha (HNF4A) gene

The search for type 2 diabetes genes

From Genetic Association to Molecular Mechanism

Evaluation of serum 1,5 anhydroglucitol levels as a clinical test to differentiate subtypes of diabetes

Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.

A role for coding functional variants in HNF4A in type 2 diabetes susceptibility

Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism

Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition

Activating Mutations in the KCNJ11 Gene Encoding the ATP-Sensitive K+ Channel Subunit Kir6.2 Are Rare in Clinically Defined Type 1 Diabetes Diagnosed Before 2 Years

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes

Naturally occurring glucokinase mutations are associated with defects in posttranslational S-nitrosylation

Variation across the allele frequency spectrum

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 Mice

Prioritising Causal Genes at Type 2 Diabetes Risk Loci

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

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

Human islet function following 20 years of cryogenic biobanking

Defining the genetic aetiology of monogenic diabetes can improve treatment

The pancreatic β cell: recent insights from human genetics

Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families

Analysis of the co-operative interaction between the allosterically regulated proteins GK and GKRP using tryptophan fluorescence

TCF7L2 and Diabetes: A Tale of Two Tissues, and of Two Species

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

Small molecular glucokinase activators: has another new anti-diabetic therapeutic lost favour?

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

Cell biology assessment of glucokinase mutations V62M and G72R in pancreatic beta-cells: evidence for cellular instability of catalytic activity

Precision medicine in the management of type 2 diabetes

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

NKX6.1 induced pluripotent stem cell reporter lines for isolation and analysis of functionally relevant neuronal and pancreas populations

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

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.

Asian MODY: are we missing an important diagnosis?

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

Human genetics as a model for target validation: finding new therapies for diabetes

A Partial Loss-of-Function Variant in AKT2 Is Associated With Reduced Insulin-Mediated Glucose Uptake in Multiple Insulin-Sensitive Tissues: A Genotype-Based Callback Positron Emission Tomography Study