Research Topics
Genomes and Genes | A L GloynSummaryAffiliation: University of Oxford Country: UK Publications
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Publications
Insights into the molecular mechanism for type 2 diabetes susceptibility at the KCNQ1 locus from temporal changes in imprinting status in human isletsMary E Travers
Oxford Centre for Diabetes Endocrinology and Metabolism, University of Oxford, Oxford, UK
Diabetes 62:987-92. 2013....- Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cisNicola L Beer
Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
Diabetes Care 35:1482-4. 2012..To demonstrate the importance of using a combined genetic and functional approach to correctly interpret a genetic test for monogenic diabetes... - Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humansMartijn van de Bunt
Mol Genet Metab 94:268-9. 2008 
Association studies of variants in promoter and coding regions of beta-cell ATP-sensitive K-channel genes SUR1 and Kir6.2 with Type 2 diabetes mellitus (UKPDS 53)A L Gloyn
Diabetes Research Laboratories, Nuffield Department of Clinical Medicine, University of Oxford, Radcliffe Infirmary, Oxford, UK
Diabet Med 18:206-12. 2001..Secondly, novel and previously described variants associated with Type 2 diabetes (SUR1 exon 16-3t, exon 18 T, and Kir6.2 E23K) were investigated in the UKPDS cohort...- Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinismAnna L Gloyn
Diabetes Research Laboratories, Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, United Kingdom
Hum Mutat 27:220-31. 2006..This review focuses on reported mutations in both genes, the spectrum of phenotypes, and the implications for treatment when patients are diagnosed with mutations in these genes... - KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological featuresAnna L Gloyn
Diabetes Research Laboratories, Oxford Centre for Diabetes Endocrinology and Metabolism, University of Oxford, UK
Eur J Hum Genet 14:824-30. 2006..The severe DEND syndrome was seen with the novel C166F mutation and mild developmental delay with the V59M mutation. These features differ markedly from the neurological consequences of acute or chronic diabetes... 
Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approachAnna L Gloyn
Diabetes Research Laboratories, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Old Road, Headington, Oxford OX3 7LJ, UK
Biochem Soc Trans 36:306-11. 2008..Current results indicate the importance of these genes in pancreatic development and suggest that mutations which result in a severe functional defect could be lethal...- Genetics: how the UKPDS contributed to determining the genetic landscape of Type 2 diabetesA L Gloyn
Diabetes Research Laboratories, Oxford Centre for Diabetes Endocrinology and Metabolism, University of Oxford, UK
Diabet Med 25:35-40. 2008..Both of these concepts were explored in the early work of the UK Prospective Diabetes Study (UKPDS) genetics research groups... - RD Lawrence Lecture 2009. Old genes, new tricks: learning about blood glucose regulation from naturally occurring genetic variation in humansA L Gloyn
Oxford Centre for Diabetes Endocrinology and Metabolism, University of Oxford, Oxford, UK
Diabet Med 26:1083-9. 2009..It is possible that parallels can be drawn from functional work on rare regulatory mutations causing monogenic forms of diabetes. However, it is more likely that comprehensive approaches will be necessary... - Defining the genetic aetiology of monogenic diabetes can improve treatmentAnna L Gloyn
Diabetes Research Laboratories, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Old Road, Headington, Oxford, OX3 7LJ, UK
Expert Opin Pharmacother 7:1759-67. 2006..Molecular genetic testing is an essential prerequisite for the pharmacogenetic treatment of monogenic diabetes... - A role for coding functional variants in HNF4A in type 2 diabetes susceptibilityB Jafar-Mohammadi
Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Headington, UK
Diabetologia 54:111-9. 2011..We aimed to evaluate the contribution of these variants to type 2 diabetes susceptibility through large-scale association analysis... - A tale of two glucose transporters: how GLUT2 re-emerged as a contender for glucose transport into the human beta cellM Van de Bunt
Oxford Centre for Diabetes Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford OX3 7LJ, UK
Diabetologia 55:2312-5. 2012..This finding should encourage efforts to delineate the precise role of GLUT2 in the human beta cell at different developmental time points and is a further reminder of critical differences between human and rodent islets... - Cellular characterisation of the GCKR P446L variant associated with type 2 diabetes riskM G Rees
Oxford Centre for Diabetes Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Headington, Oxford, OX3 7LJ, UK
Diabetologia 55:114-22. 2012..As GCK inhibition is associated with nuclear sequestration, we aimed to determine whether this variant also alters the direct interaction between GKRP and GCK and their intracellular localisation... - Global microRNA expression profiles in insulin target tissues in a spontaneous rat model of type 2 diabetesB M Herrera
Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
Diabetologia 53:1099-109. 2010..To investigate the relationship between microRNA expression and type 2 diabetes, we compared global microRNA expression in insulin target tissues from three inbred rat strains that differ in diabetes susceptibility... - Prevalence and clinical characteristics of maternally inherited diabetes and deafness caused by the mt3243A > G mutation in young adult diabetic subjects in Sri LankaP Katulanda
Oxford Centre for Diabetes Endocrinology and Metabolism, University of Oxford, UK, and Faculty of Medicine, University of Columbo, Sri Lanka
Diabet Med 25:370-4. 2008..We aimed to determine the prevalence and clinical characteristics of MIDD in a large South Asian cohort of young adult-onset diabetic patients from Sri Lanka... - Apolipoprotein M can discriminate HNF1A-MODY from Type 1 diabetesS A Mughal
Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
Diabet Med 30:246-50. 2013..However, subsequent human studies examining apoM as a biomarker have yielded conflicting results. We aimed to evaluate apoM as a biomarker for HNF1A-MODY using a highly specific and sensitive ELISA... - A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypesG Thanabalasingham
Oxford Centre for Diabetes Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Headington, Oxford, OX3 7LJ, UK
Diabetologia 54:2801-10. 2011..In this large multi-centre study we aimed to assess the clinical validity of hsCRP as a diagnostic biomarker, examine the genotype-phenotype relationship and compare different hsCRP assays... - Human calcium/calmodulin-dependent protein kinase II gamma gene (CAMK2G): cloning, genomic structure and detection of variants in subjects with type II diabetesA L Gloyn
Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
Diabetologia 45:580-3. 2002..We therefore investigated the gene encoding the gamma isoform ( CAMK2G) which has been shown to be expressed in human beta cells as a candidate gene for Type II (non-insulin-dependent) diabetes mellitus... - Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblingsEmma L Edghill
Department of Molecular Genetics, Royal Devon and Exeter National Health Service Foundation Trust, Barrack Road, Exeter, United Kingdom
J Clin Endocrinol Metab 92:1773-7. 2007..2 subunit of the pancreatic beta-cell K(ATP) channel, result in permanent and transient neonatal diabetes. The majority of KCNJ11 mutations are spontaneous, but the parental origin of these mutations is not known... - Relationship between E23K (an established type II diabetes-susceptibility variant within KCNJ11), polycystic ovary syndrome and androgen levelsThomas M Barber
Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Old Road, Headington, Oxford, UK
Eur J Hum Genet 15:679-84. 2007..08). In conclusion, these data (involving >4600 subjects) provide no evidence that common variants of the KCNJ11 E23K polymorphism have a major influence on PCOS susceptibility, though modest effect sizes (OR<1.25) cannot be excluded... - Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthoodSarah E Flanagan
Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
Diabetes 56:1930-7. 2007..Remitting neonatal diabetes was observed in two of three mutation carriers, and permanent diabetes occurred after 6 months of age in subjects without an initial diagnosis of neonatal diabetes... - Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapyDoga Turkkahraman
From the Department of Pediatric Endocrinology, Akdeniz University Hospital, Antalya, Turkey
J Pediatr 153:122-6. 2008..To evaluate the clinical response to sulphonylurea treatment in a child with a homozygous T168A GCK (glucokinase) mutation, causing permanent neonatal diabetes mellitus (PNDM)... - Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutationHenrik B T Christesen
HC Andersen Children s Hospital, Odense University Hospital, DK 5000 Odense C, Denmark
Eur J Endocrinol 159:27-34. 2008..Activating glucokinase (GCK) mutations are a rarely reported cause of congenital hyperinsulinism (CHI), but the prevalence of GCK mutations is not known... - 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 diabetesAnna L Gloyn
Centre for Molecular Genetics, Peninsula Medical School, Exeter, UK
Diabetes 52:568-72. 2003..000002); but the ABCC8 variants were not associated. Our results confirm that E23K increases risk of type 2 diabetes and show that large-scale association studies are important for the identification of diabetes susceptibility alleles... - 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 approachAnna L Gloyn
Diabetes Research Laboratories, Oxford Centre for Diabetes, Endocrinology and Metabolism, Oxford, UK
Diabetes 55:2272-6. 2006..Using a study sufficiently powered to detect odds ratios of <1.2, we conclude that common variation in the TNDM region does not play an important role in the genetic susceptibility to type 2 diabetes... - 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) geneAnna L Gloyn
Department of Diabetes and Vascular Medicine, School of Postgraduate Medical and Health Sciences, University of Exeter, Barrack Road, Exeter EX2 5AX, U K
Diabetes 51:2329-33. 2002..This is the first case of MODY due to a balanced translocation, and it provides evidence to confirm the crucial role of an upstream regulator of HNF4A gene expression in the beta-cell... - Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancyAnna L Gloyn
Diabetes and Vascular Medicine, Peninsula Medical School, Exeter, UK
Hum Mutat 22:353-62. 2003..The identification of a GCK mutation in hyper- and hypoglycemia has implications for the clinical course and clinical management of the disorder... - Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetesAnna L Gloyn
Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, United Kingdom
N Engl J Med 350:1838-49. 2004..2 subunit of this channel (KCNJ11) cause neonatal diabetes... - 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 channelAnna L Gloyn
Diabetes and Vascular Medicine, Peninsula Medical School, Exeter EX2 5AX, United Kingdom
J Clin Endocrinol Metab 89:3932-5. 2004..The possibility of germline mosaicism should be considered when counseling recurrence risks for the parents of a child with an apparently de novo KCNJ11 activating mutation... - Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapyJørn V Sagen
Section of Pediatrics, Department of Clinical Medicine, University of Bergen, N 5021 Bergen, Norway
Diabetes 53:2713-8. 2004..2 may be managed on an oral sulfonylurea with sustained metabolic control rather than insulin injections, illustrating the principle of pharmacogenetics applied in diabetes treatment... - Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patientsMartine Vaxillaire
Centre National de la Recherche Scientifique UMR 8090, Institut of Biology and Pasteur Institute, Lille, France
Diabetes 53:2719-22. 2004..2 is associated with in utero insulin secretory insufficiency and growth retardation. In conclusion, we confirmed that Kir6.2 mutations are a common cause (53%) of PND in Caucasians... - 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 yearsEmma L Edghill
Institute of Biomedical and Clinical Science, Peninsula Medical School, Barrack Road, Exeter EX2 5AX, UK
Diabetes 53:2998-3001. 2004..Although activating KCNJ11 mutations are rare in patients diagnosed with type 1 diabetes, the identification of a KCNJ11 mutation may have important treatment implications... - Mutations in PTF1A cause pancreatic and cerebellar agenesisGabrielle S Sellick
Section of Cancer Genetics, Institute of Cancer Research, Surrey SM2 5NG, UK
Nat Genet 36:1301-5. 2004..The essential role of PTF1A in normal cerebellar development was confirmed by detailed neuropathological analysis of Ptf1a(-/-) mice... - KCNJ11 activating mutations in Italian patients with permanent neonatal diabetesOrnella Massa
Laboratory of Molecular Endocrinology and Metabolism, The Diabetes Unit, and the Scientific Directorate, Bambino Gesu Pediatric Hospital, Scientific Institute IRCCS, Rome, Italy
Hum Mutat 25:22-7. 2005..g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion between patients with early-onset, autoimmune type 1 diabetes... - Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the youngAnna L Gloyn
Diabetes Research Laboratories, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford OX3 7LJ, United Kingdom
J Biol Chem 280:14105-13. 2005..Elucidating such mechanisms leads to a deeper understanding of the GCK glucose sensor and the biochemistry of beta-cells and hepatocytes... - Relapsing diabetes can result from moderately activating mutations in KCNJ11Anna L Gloyn
Institute of Biomedical and Clinical Science, Peninsula Medical School, Barrack Road, Exeter EX2 5DW, USA
Hum Mol Genet 14:925-34. 2005..This suggests that a fixed ion channel abnormality can result in a fluctuating glycaemic phenotype. The multiple phenotypes associated with activating KCNJ11 mutations may reflect their severity in vitro... - A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndromePeter Proks
University Laboratory of Physiology, Oxford University, Oxford OX1 3PT, UK
EMBO Rep 6:470-5. 2005..The results implicate a new region in Kir-channel gating and suggest that disease severity is correlated with the extent of reduction in ATP sensitivity... - Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological featuresPeter Proks
University Laboratory of Physiology, Oxford University, Oxford OX1 3PT, United Kingdom
Proc Natl Acad Sci U S A 101:17539-44. 2004..2 (V59G) influence the channel kinetics, providing evidence that this domain is involved in Kir channel gating, and suggest that the efficacy of sulfonylurea therapy in PNDM may vary with genotype... - 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. populationsTimothy M Frayling
Department of Diabetes and Vascular Medicine, University of Exeter, Barrack Road, Exeter EX2 5AX, U K
Diabetes 51:2313-6. 2002..66). There was no association with measures of fetal growth, including birth weight (P = 0.17). Our results do not support the previous associations and suggest that the promoter microsatellite is unlikely to be functionally important... - The search for type 2 diabetes genesAnna L Gloyn
Department of Diabetes and Vascular Medicine, Peninsular Medical School, Barrack Road, Exeter EX2 5AX, UK
Ageing Res Rev 2:111-27. 2003..This review focuses on the main approaches currently adopted and our current understanding of the genes involved in susceptibility to type 2 diabetes... - Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutationsAnna L Gloyn
Department of Diabetes and Vascular Medicine, Peninsula Medical School, Exeter, UK
Diabetes 52:2433-40. 2003..In vitro studies confirm the validity of structural and functional models of GCK and the putative allosteric activator site, which is a potential drug target for the treatment of type 2 diabetes... - Cell biology assessment of glucokinase mutations V62M and G72R in pancreatic beta-cells: evidence for cellular instability of catalytic activityCatherine Arden
Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK
Diabetes 56:1773-82. 2007..These results suggest that cellular loss of GK catalytic activity rather than impaired translation or enhanced protein degradation may account for the hyperglycemia in subjects with V62M and G72R mutations... - The role of the HNF4alpha enhancer in type 2 diabetesSimon M S Mitchell
Department of Diabetes and Vascular Medicine, University of Exeter, Barrack Road, EX2 5DW, UK
Mol Genet Metab 76:148-51. 2002..No variants of the enhancer element were found in this population. We conclude that variation in the HNF4alpha enhancer element is not a common cause of susceptibility to type 2 diabetes...