Anna L. Gloyn
A5017761772- Pancreatic function and diabetes
- Diabetes and associated disorders
- Metabolism, Diabetes, and Cancer
- Genetic Associations and Epidemiology
- Diabetes Management and Research
- Epigenetics and DNA Methylation
- Genetics and Neurodevelopmental Disorders
- Diabetes Treatment and Management
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Bioinformatics and Genomic Networks
- RNA modifications and cancer
- Genomics and Rare Diseases
- Diet, Metabolism, and Disease
- Diet and metabolism studies
- Genetic Mapping and Diversity in Plants and Animals
- Cancer-related gene regulation
- Endoplasmic Reticulum Stress and Disease
- CRISPR and Genetic Engineering
- Nutrition, Genetics, and Disease
- Cardiac Ischemia and Reperfusion
- Cardiovascular Function and Risk Factors
- Cancer-related molecular mechanisms research
- Pancreatic and Hepatic Oncology Research
- MicroRNA in disease regulation
- Genetic Syndromes and Imprinting
University of Oxford
2016-2025
Oxford Centre for Diabetes, Endocrinology and Metabolism
2016-2025
Stanford University
2020-2025
Stanford Medicine
2020-2025
Pediatrics and Genetics
2021-2025
Centre for Human Genetics
2015-2024
Churchill Hospital
2014-2023
National University Cancer Institute, Singapore
2023
National University of Singapore
2023
Oxford BioMedica (United Kingdom)
2011-2021
Patients with permanent neonatal diabetes usually present within the first three months of life and require insulin treatment. In most, cause is unknown. Because ATP-sensitive potassium (K(ATP)) channels mediate glucose-stimulated secretion from pancreatic beta cells, we hypothesized that activating mutations in gene encoding Kir6.2 subunit this channel (KCNJ11) diabetes.We sequenced KCNJ11 29 patients diabetes. The secretory response to intravenous glucagon, glucose, sulfonylurea...
The genes ABCC8 and KCNJ11, which encode the subunits sulfonylurea receptor 1 (SUR1) inwardly rectifying potassium channel (Kir6.2) of β-cell ATP-sensitive (KATP) channel, control insulin secretion. Common polymorphisms in these (ABCC8 exon 16–3t/c, 18 T/C, KCNJ11 E23K) have been variably associated with type 2 diabetes, but no large (∼2,000 subjects) case-control studies performed. We evaluated role three variants by studying 2,486 U.K. subjects: 854 1,182 population subjects, 150...
Genome-wide association studies have identified a number of signals for both Type 2 Diabetes and related quantitative traits. For the majority loci, transition from signal to mutational mechanism has been difficult establish. Glucokinase (GCK) regulates glucose storage disposal in liver where its activity is regulated by glucokinase regulatory protein (GKRP; gene name GCKR ). Fructose-6 fructose-1 phosphate (F6P F1P) enhance or reduce GKRP-mediated inhibition, respectively. A common variant...
OBJECTIVE Proinsulin is a precursor of mature insulin and C-peptide. Higher circulating proinsulin levels are associated with impaired β-cell function, raised glucose levels, resistance, type 2 diabetes (T2D). Studies the processing pathway could provide new insights about T2D pathophysiology. RESEARCH DESIGN AND METHODS We have conducted meta-analysis genome-wide association tests ∼2.5 million genotyped or imputed single nucleotide polymorphisms (SNPs) fasting in 10,701 nondiabetic adults...
Transient neonatal diabetes mellitus (TNDM) is diagnosed in the first 6 months of life, with remission infancy or early childhood. For approximately 50% patients, their will relapse later life. The majority cases result from anomalies imprinted region on chromosome 6q24, and 14 patients ATP-sensitive K+ channel (K(ATP) channel) gene mutations have been reported. We determined 6q24 status 97 TNDM. In whom no abnormality was identified, KCNJ11 and/or ABCC8 gene, which encode Kir6.2 SUR1...
MicroRNAs regulate a broad range of biological mechanisms. To investigate the relationship between microRNA expression and type 2 diabetes, we compared global in insulin target tissues from three inbred rat strains that differ diabetes susceptibility.
The majority of genetic risk variants for type 2 diabetes (T2D) affect insulin secretion, but the mechanisms through which they influence pancreatic islet function remain largely unknown. We functionally characterized human islets to determine secretory, biophysical, and ultrastructural features in relation profiles diabetic nondiabetic donors. Islets from donors with T2D exhibited impaired was more pronounced lean than obese assessed impact 14 disease susceptibility on measures glucose...
Epidemiologic and genetic evidence links type 2 diabetes, obesity, cancer. The tumor-suppressor phosphatase tensin homologue (PTEN) has roles in both cellular growth metabolic signaling. Germline PTEN mutations cause a cancer-predisposition syndrome, providing an opportunity to study the effect of haploinsufficiency humans.
The intersection of genome-wide association analyses with physiological and functional data indicates that variants regulating islet gene transcription influence type 2 diabetes (T2D) predisposition glucose homeostasis. However, the specific genes through which these regulatory act remain poorly characterized. We generated expression quantitative trait locus (eQTL) in 118 human samples using RNA-sequencing high-density genotyping. identified fourteen loci at cis-exon-eQTL signals overlapped...
Permanent neonatal diabetes (PND) can be caused by mutations in the transcription factors insulin promoter factor (IPF)-1, eukaryotic translation initiation factor-2α kinase 3 (EIF2AK3), and forkhead box-P3 key components of secretion: glucokinase (GCK) ATP-sensitive K+ channel subunit Kir6.2. We sequenced gene encoding Kir6.2 (KCNJ11) 11 probands with GCK-negative PND. Heterozygous were identified seven probands, causing three novel (F35V, Y330C, F333I) two known (V59M R201H) amino acid...
Inwardly rectifying potassium channels (Kir channels) control cell membrane K + fluxes and electrical signaling in diverse types. Heterozygous mutations the human Kir6.2 gene ( KCNJ11 ), pore-forming subunit of ATP-sensitive (K ATP ) channel, cause permanent neonatal diabetes mellitus (PNDM). For some mutations, PNDM is accompanied by marked developmental delay, muscle weakness, epilepsy (severe disease). To determine molecular basis these different phenotypes, we expressed wild-type or...