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List of works by Anna Gloyn

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

scientific article published on 19 December 2017
Relationship between E23K (an established type II diabetes-susceptibility variant within KCNJ11), polycystic ovary syndrome and androgen levels

article published in 2007
Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia

scientific article
Loss of ZnT8 function protects against diabetes by enhanced insulin secretion

scientific article published on 01 November 2019
A CRISPR/Cas9 genome editing pipeline in the EndoC-βH1 cell line to study genes implicated in beta cell function

scientific article published on 08 October 2019
When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes

scientific article published on September 2015
Type 2 diabetes risk alleles in PAM impact insulin release from human pancreatic β-cells

scientific article published on 27 July 2018
The role of the HNF4α enhancer in type 2 diabetes

scientific article published on 01 June 2002
Quantitative traits associated with the Type 2 diabetes susceptibility allele in Kir6.2

scientific article published on 18 June 2003
Translational genomics and precision medicine: Moving from the lab to the clinic

scientific article
Human calcium/calmodulin-dependent protein kinase II gamma gene (CAMK2G): cloning, genomic structure and detection of variants in subjects with type II diabetes.

scientific article
Corrigendum: Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

scholarly article published in Nature Genetics
Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

Genetics: how the UKPDS contributed to determining the genetic landscape of Type 2 diabetes.

scientific article published on August 2008
Metabolic profiling in Maturity-onset diabetes of the young (MODY) and young onset type 2 diabetes fails to detect robust urinary biomarkers

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
Assessment of the role of common genetic variation in the transient neonatal diabetes mellitus (TNDM) region in type 2 diabetes: a comparative genomic and tagging single nucleotide polymorphism approach

scientific article
A panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human disease

scientific article (publication date: 2014)
Bridging the gap between genetic associations and molecular mechanisms for type 2 diabetes

scientific article
Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to type 2 diabetes

scientific article published on 12 August 2009
Genome-edited human stem cell-derived beta cells: a powerful tool for drilling down on type 2 diabetes GWAS biology

scientific article
Prevalence and clinical characteristics of maternally inherited diabetes and deafness caused by the mt3243A > G mutation in young adult diabetic subjects in Sri Lanka.

scientific article published on 13 February 2008
Electrophysiological properties of human beta-cell lines EndoC-βH1 and -βH2 conform with human beta-cells

scientific article published in Scientific Reports
Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach

scientific article published in June 2008
The Importance of Context: Uncovering Species- and Tissue-Specific Effects of Genetic Risk Variants for Type 2 Diabetes

scientific article published on 31 August 2016
Plasma Fucosylated Glycans and C-Reactive Protein as Biomarkers of HNF1A-MODY in Young Adult–Onset Nonautoimmune Diabetes

scientific article published on 19 November 2018
Insights into metabolic disease from studying genetics in isolated populations: stories from Greece to Greenland

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

scientific article published on 6 July 2007
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
Genes Associated with Pancreas Development and Function Maintain Open Chromatin in iPSCs Generated from Human Pancreatic Beta Cells

scientific article published on 24 October 2017
Maturity onset diabetes of the young due to HNF1A variants in Croatia

scientific article published on 15 April 2018
Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes

scientific article published on 30 January 2020
Mutations in the third gene shown to alter fasting glucose levels in the population (G6PC2) are not a common cause of monogenic forms of pancreatic B-cell dysfunction.

scientific article published in January 2009
Genetic variant effects on gene expression in human pancreatic islets and their implications for T2D

scientific article published on 30 September 2020
Reclassification of diabetes etiology in a family with multiple diabetes phenotypes

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

scientific article published on 23 January 2018
Author Correction: Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition

article
Identification of type 2 diabetes loci in 433,540 East Asian individuals

scientific article published on 06 May 2020
The beta-cell Ca2+/calmodulin-dependent protein kinase II (CaM kinase II) beta3 isoform containing a proline-rich tandem repeat in the association domain can be found in the human genome

scientific article published in June 2001
Response to Comment on Misra et al. Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes. Diabetes Care 2020;43:909-912

scientific article published on 01 October 2020
Developing a network view of type 2 diabetes risk pathways through integration of genetic, genomic and functional data

Exocrine or endocrine? A circulating pancreatic elastase that regulates glucose homeostasis

scientific article published on 01 September 2019
Deep learning models predict regulatory variants in pancreatic islets and refine type 2 diabetes association signals

scientific article published on 27 January 2020
Integration of human pancreatic islet genomic data refines regulatory mechanisms at Type 2 Diabetes susceptibility loci

Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization

scientific article published in 2023
Type 2 Diabetes Risk Alleles Reveal a Role for Peptidylglycine Alpha-amidating Monooxygenase in Beta Cell Function

HumanIslets: An integrated platform for human islet data access and analysis

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

Type 2 Diabetes risk alleles in Peptidyl-glycine Alpha-amidating Monooxygenase influence GLP-1 levels and response to GLP-1 Receptor Agonists

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

scientific article published on 01 August 2007

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