Research Topics
Genomes and Genes | S EllardSummaryAffiliation: Royal Devon and Exeter NHS Foundation Trust Country: UK Publications
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Publications
Patients' understanding of genetic susceptibility testing in mainstream medicine: qualitative study on thrombophiliaPaula M Saukko
ESRC Centre for Genomics in Society, University of Exeter, UK
BMC Health Serv Res 7:82. 2007..There are no studies on patients' experience and understanding of the process of testing for common genetic susceptibilities in mainstream medicine...- Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the youngS Ellard
Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
Diabetologia 51:546-53. 2008..These monogenic forms of diabetes are often misdiagnosed as type 1 or 2 diabetes. Best practice guidelines for genetic testing were developed to guide testing and reporting of results... 
Semi-automated unidirectional sequence analysis for mutation detection in a clinical diagnostic settingSian Ellard
Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom
Genet Test Mol Biomarkers 13:381-6. 2009..We evaluated the sensitivity of semiautomated unidirectional sequence analysis for the detection of heterozygous base substitutions using the Mutation Surveyor software package...
Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the youngS Ellard
Institute of Biomedical Science and Clinical Medicine, Peninsula Medical School, Exeter, UK
Diabetologia 50:2313-7. 2007..We investigated the prevalence of partial and whole gene deletions in UK patients meeting clinical criteria for GCK or HNF-1alpha/-4alpha MODY and in whom no mutation had been identified by sequence analysis...- Heterozygous ABCC8 mutations are a cause of MODYP Bowman
Peninsula NIHR Clinical Research Facility, Peninsula Medical School, University of Exeter, Exeter, UK
Diabetologia 55:123-7. 2012..Our aim was to establish whether mutations in the ABCC8 gene cause MODY that is responsive to sulfonylurea therapy... - Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemiaSe Flanagan
Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter, UK
Pediatr Diabetes 13:285-9. 2012.... - Predictive genetic testing in maturity-onset diabetes of the young (MODY)M Shepherd
Department of Diabetes and Vascular Medicine, School of Postgraduate Medicine and Health Sciences, University of Exeter, Exeter, UK
Diabet Med 18:417-21. 2001..CONCLUSIONS: This case emphasizes that decisions on predictive testing are very personal and require appropriate counselling... - Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal periodA M Patch
Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
Diabetes Obes Metab 9:28-39. 2007..We reviewed the existing literature, extended the number of cases and explored genotype-phenotype correlations... - Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotypeS E Flanagan
Institute of Biomedical and Clinical Science, Peninsula Medical School, Barrack Road, Exeter, EX25DW, UK
Diabetologia 49:1190-7. 2006..We aimed to determine the age of presentation of patients with KCNJ11 mutations and to examine if there was a relationship between genotype and phenotype... - Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutationsN V Whittock
Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
Clin Genet 66:67-72. 2004..Their two unaffected siblings were heterozygotes for the 1440delG mutation. Pseudodominant inheritance has been confirmed, and the findings raise potential consequences for genetic counseling in relation to the SCD disorders... - The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetesB M Shields
Peninsula NIHR Clinical Research Facility, Peninsula Medical School, University of Exeter, Barrack Road, Exeter EX2 5DW, UK
Diabetologia 55:1265-72. 2012..We aimed to use multiple, weighted, clinical criteria to determine an individual's probability of having MODY, as a crucial tool for rational genetic testing... - Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A geneA M Steele
Peninsula NIHR Clinical Research Facility, Peninsula Medical School, Exeter
Diabet Med 27:157-61. 2010..To investigate all-cause and cardiovascular mortality in subjects with diabetes caused by a mutation in the hepatocyte nuclear factor 1alpha gene (HNF1A)... - Severe intrauterine growth retardation and atypical diabetes associated with a translocation breakpoint disrupting regulation of the insulin-like growth factor 2 geneR Murphy
Institute of Clinical and Biomedical Sciences, Peninsula Medical School, Barrack Road, Exeter EX2 5DW, United Kingdom
J Clin Endocrinol Metab 93:4373-80. 2008..In mice, enhancers of the IGF2 gene are located up to 260 kb telomeric to the gene. The role of IGF-II in humans is unclear... - Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemiaS E Flanagan
Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter, UK
Clin Genet 79:582-7. 2011..The identification of dominant vs recessive mutations does not predict clinical course but it is important for estimating the risk of HH in future siblings and offspring... - A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patientsM Shepherd
Institute of Health and Social Care Research Peninsula Medical School, Exeter, UK
Diabet Med 26:437-41. 2009..We aimed to assess if patients do change from insulin to sulphonylurea treatment when HNF1A diabetes is confirmed and the impact of this treatment change on long-term glycaemic control... - Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collectionE R Pearson
Diabetes and Vascular Medicine, Institute of Biomedical and Clinical Science, Peninsula Medical School, Barrack Road, Exeter EX2 5AX, UK
Diabetologia 48:878-85. 2005..The description of the phenotype is limited to single families. We investigated the genetics and phenotype of HNF-4alpha mutations in a large European Caucasian collection... - Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutationsS E Flanagan
Peninsula Medical School, Institute of Biomedical and Clinical Science, University of Exeter, Exeter, UK
Eur J Endocrinol 162:987-92. 2010..In this study, we investigated the prevalence of HNF4A mutations in a large cohort of patients with diazoxide responsive hyperinsulinemic hypoglycemia (HH)... - Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY)K L Thomson
Department of Molecular Genetics, Royal Devon and Exeter NHS Healthcare Trust, Exeter, EX2 5DW
Hum Mutat 22:417. 2003..Mutation screening has identified 43 different mutations in 61 individuals, of which 21 are novel. This report details the mutations identified and their associated clinical features... - Sequencing PDX1 (insulin promoter factor 1) in 1788 UK individuals found 5% had a low frequency coding variant, but these variants are not associated with Type 2 diabetesE L Edghill
Institute of Biomedical and Clinical Science Genetics of Complex Traits, Peninsula College of Medicine and Dentistry, University of Exeter, Barrack Road, Exeter, UK
Diabet Med 28:681-4. 2011..In contrast, the role of low frequency genetic variants (minor allele frequency 0.1-5%) in Type 2 diabetes is not known. The aim of this study was to assess the role of low frequency PDX1 (also called IPF1) variants in Type 2 diabetes... - Heterogeneity in young adult onset diabetes: aetiology alters clinical characteristicsK R Owen
Centre for Molecular Genetics, School of Postgraduate Medicine and Health Sciences, University of Exeter, Exeter, UK
Diabet Med 19:758-61. 2002..To describe the characteristics of hepatocyte nuclear factor (HNF) 1 alpha mutation carriers diagnosed with diabetes after 25 years and compare them with young-onset Type 2 diabetic patients (YT2D) diagnosed at the same age... - Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney diseaseC Bingham
Department of Vascular Medicine and Diabetes Research, School of Postgraduate Medicine and Health Sciences, University of Exeter, Exeter, EX2 5AX, Devon, United Kingdom
Am J Hum Genet 68:219-24. 2001..We conclude that there is genetic heterogeneity in familial GCKD and that the hypoplastic subtype is a part of the clinical spectrum of the renal cysts and diabetes syndrome that is associated with HNF-1beta mutations... - Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1beta in human pancreatic developmentE L Edghill
Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
Diabet Med 23:1301-6. 2006..We aimed to investigate the role of HNF-1beta mutations in neonatal diabetes and also the impact of HNF-1beta mutations on fetal growth... - Pregnancy outcome in patients with raised blood glucose due to a heterozygous glucokinase gene mutationG Spyer
Institute of Biomedical Sciences, Peninsula Medical School, Exeter, UK
Diabet Med 26:14-8. 2009..To assess determinants of fetal growth in the offspring of pregnant women with hyperglycaemia due to a heterozygous glucokinase (GCK) gene mutation... - Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndromeL W Harries
Molecular Genetics, Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
Diabetologia 47:937-42. 2004..This is the aim of the present study... - SLC2A2 mutations can cause neonatal diabetes, suggesting GLUT2 may have a role in human insulin secretionF H Sansbury
Peninsula College of Medicine and Dentistry, University of Exeter, Peninsula Medical School Building, Barrack Road, Exeter, Devon EX2 5DW, UK
Diabetologia 55:2381-5. 2012..We investigated the potential role of GLUT2 in the neonatal period by testing whether SLC2A2 mutations can present with neonatal diabetes before the clinical features of FBS appear... - Maturity-onset diabetes of the young (MODY): how many cases are we missing?B M Shields
Peninsula Medical School, University of Exeter, Exeter, UK
Diabetologia 53:2504-8. 2010..We aimed to compare the regional distribution of confirmed MODY cases in the UK and to estimate the minimum prevalence... - JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndromeK Guegan
Department of Molecular Genetics Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, UK
Clin Genet 82:33-40. 2012.... - HNF1B deletions in patients with young-onset diabetes but no known renal diseaseE L Edghill
Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter, UK
Diabet Med 30:114-7. 2013..We investigated the prevalence of HNF1B deletions in patients with diabetes but no known renal disease... - Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testingS Ellard
Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK
Clin Endocrinol (Oxf) 62:169-75. 2005..We examined the appropriateness of these clinical criteria... - Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the youngS Ellard
Department of Vascular Medicine and Diabetes Research, School of Postgraduate Medicine and Health Sciences, University of Exeter, Exeter, UK
Hum Mutat 16:377-85. 2000..The identification of an HNF-1 alpha gene mutation in a patient with type 2 diabetes confirms the diagnosis of MODY and has important implications for clinical management... - Large variation in t(11;14)(q13;q32) and t(14;18)(q32;q21) translocation product size is confirmed by sequence analysis of PCR productsC L Wickham
Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Devon, UK
Clin Lab Haematol 28:248-53. 2006..We demonstrate the utility of sequence analysis to confirm unusual-sized translocation products and reduce false-positive results because of nonspecific amplification... - Analysis of haematopoietic chimaerism by quantitative real-time polymerase chain reactionL W Harries
Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, Devon, England
Bone Marrow Transplant 35:283-90. 2005..The use of more sensitive and accurate techniques permits earlier intervention for improved clinical outcome... - The laminopathies: a clinical reviewJ Rankin
Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK
Clin Genet 70:261-74. 2006..These phenotypes and the emerging genotype/phenotype correlations are the subject of this review... - Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosisM P Bulman
Molecular Genetics, School of Postgraduate Medicine and Health Sciences, Barrack Road, Exeter, UK
Nat Genet 24:438-41. 2000..These represent the first mutations in a human Delta homologue, thus highlighting the critical role of the Notch signalling pathway and its components in patterning the mammalian axial.. - Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United KingdomJ C Evans
Department of Diabetes and Vascular Medicine, School of Postgraduate Medicine and Health Sciences, University of Exeter, Exeter, EX2 5AX, United Kingdom
Am J Hum Genet 69:544-52. 2001..In conclusion, we were not able to replicate the association of the specific calpain-10 alleles identified by Horikawa et al. but suggest that other alleles at this locus may increase type 2 diabetes risk in the U.K. population... - Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigreesSarah E Flanagan
Institute of Biomedical and Clinical Science, Peninsula Medical School, Barrack Road, Exeter, EX2 5DW, United Kingdom
J Clin Endocrinol Metab 96:E498-502. 2011.... - Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1alpha gene: implications for predictive testingZ Miedzybrodzka
Medical Genetics, University of Aberdeen Medical School, Scotland, UK
Eur J Hum Genet 7:729-32. 1999..Predictive testing is now possible within the majority of MODY families, and is of clinical benefit, but the possibility of non-penetrance should be addressed during counselling and interpretation of results... - Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 betaC Bingham
Department of Vascular Medicine and Diabetes Research, School of Postgraduate Medicine and Health Sciences, University of Exeter, England, United Kingdom
Kidney Int 57:898-907. 2000..HNF-1 beta gene mutations are associated with a unique disorder characterized by maturity-onset diabetes of the young (MODY) and early-onset and progressive nondiabetic renal dysfunction, which may lead to chronic renal failure... - Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetesW M Macfarlane
Department of Molecular and Cell Biology, Institute of Medical Sciences, University of Aberdeen, Foresterhill, Aberdeen AB25 2ZD, United Kingdom
J Clin Invest 104:R33-9. 1999..We conclude that mutations in the IPF-1 gene may predispose to type 2 diabetes and are a rare cause of MODY and pancreatic agenesis, with the phenotype depending upon the severity of the mutation... - Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.KT M Frayling
Institute of Clinical Science, University of Exeter, Devon, U K
Diabetes 46:720-5. 1997..K. families and result in early onset NIDDM with a progressive clinical course. Mutation-based genetic counseling can now be considered for the majority of patients with MODY... - Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the youngM P Bulman
Centre for Molecular Genetics, School of Postgraduate Medicine and Health Sciences, University of Exeter, Exeter EX2 5AX, UK
Diabetologia 45:1463-7. 2002..This study aimed to define the pathogenic mechanism in three novel splice site mutations by analysing illegitimate transcripts... - Mutations in hepatocyte nuclear factor-1beta and their related phenotypesE L Edghill
J Med Genet 43:84-90. 2006..Molecular genetic testing for HNF-1beta mutations should be considered in patients with unexplained renal cysts (including GCKD), especially when associated with diabetes, early-onset gout, or uterine abnormalities... - Asian MODY: are we missing an important diagnosis?J R Porter
Institute of Child Health, Birmingham Children s Hospital, Birmingham, UK
Diabet Med 23:1257-60. 2006..The first UK survey of childhood MODY identified 20 White, but no Asian children with MODY. We hypothesized that MODY causes diabetes in UK Asians, but is underdiagnosed... - Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancyM Wabitsch
Paediatric Endocrinology, Department of Paediatrics, University of Ulm, Ulm, Germany
Diabet Med 24:1393-9. 2007..The aim of this study was to relate genotype to phenotype [clinical phenotype, glucose-stimulated insulin release (GSIR) and GCK functional analysis] in a large pedigree with eight affected individuals... - Permanent neonatal diabetes in an Asian infantJ R Porter
Birmingham Children s Hospital, Birmingham, UK
J Pediatr 146:131-3. 2005..Both parents were heterozygous for R397L and had mild hyperglycemia. Glucokinase mutations should be considered in infants of all ethnic groups with neonatal diabetes and consanguinity... - Complete glucokinase deficiency is not a common cause of permanent neonatal diabetesA L Gloyn
Diabetologia 45:290. 2002 - A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the youngM P Bulman
Division of Molecular Genetics, University of Exeter, UK
Diabetologia 40:859-62. 1997..This is the first missense mutation to be described in the HNF-4 alpha gene... - A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetesT M Frayling
Division of Molecular Genetics, University of Exeter, UK
Hum Genet 101:351-4. 1997..Our results indicate that the prevalence of the nine frameshift mutations in strictly defined UK MODY is 18%, with the P291fsinsC mutation alone having a frequency of 13%... - Mutations in the glucokinase gene of the fetus result in reduced birth weightA T Hattersley
Department of Vascular Medicine and Diabetes Research, Postgraduate Medical School, University of Exeter, UK
Nat Genet 19:268-70. 1998..This observation suggests that variation in fetal growth could be used in the assessment of the role of genes which modify either insulin secretion or insulin action... - Multiple endocrine neoplasia type 1Burin from Mauritius: a novel MEN1 mutationC Kong
Department of Endocrinology, Hemel Hempstead General Hospital, Hemel Hempstead, Herts, UK
J Endocrinol Invest 24:806-10. 2001..Thus, similar to the classic syndrome, MEN 1Burin phenotype shows poor correlation to MEN 1 genotype... - Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1alpha gene hinders the identification of mutations in three families with maturity-onset diabetes of the youngS Ellard
Department of Diabetes and Vascular Medicine, School of Postgraduate Medicine and Health Sciences, University of Exeter, UK
Diabetes 48:921-3. 1999 - A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3P D Turnpenny
Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter EX2 5DW United Kingdom
Am J Hum Genet 65:175-82. 1999..Identification of these genes will improve the understanding of the molecular processes contributing to both normal and abnormal human vertebral development... - ACE gene polymorphism as a prognostic indicator in patients with type 2 diabetes and established renal diseaseS Fava
Diabetes Clinic, St Luke s Hospital, Guardamangia, Malta
Diabetes Care 24:2115-20. 2001..To investigate whether the DD genotype is a predictor of mortality and of the decline in renal function in patients with type 2 diabetes and established nephropathy... - Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosisP D Turnpenny
Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter EX2 5DW, UK
J Med Genet 40:333-9. 2003..This is a very consistent phenotype-genotype correlation and we suggest the designation SCD type 1 for the AR form caused by mutations in the DLL3 gene... - Mutations in HHEX are not a common cause of monogenic forms of beta cell dysfunctionJ A L Minton
Diabetologia 50:2019-22. 2007 - A distant upstream promoter of the HNF-4alpha gene connects the transcription factors involved in maturity-onset diabetes of the youngH Thomas
Institut für Zellbiologie Tumorforschung, Universitatsklinikum Essen, Hufelandstrasse 55, D 45122 Essen, Germany
Hum Mol Genet 10:2089-97. 2001..25). These data suggest a regulatory network of the four MODY transcription factors interconnected at the distant upstream P2 promoter of the HNF-4alpha gene... - Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human developmentM Kolatsi-Joannou
Nephro-Urology Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, United Kingdom
J Am Soc Nephrol 12:2175-80. 2001..These results constitute the first demonstration of HNF-1beta expression during human nephrogenesis and emphasize a disease spectrum associated with HNF-1beta mutation... - The generalized aminoaciduria seen in patients with hepatocyte nuclear factor-1alpha mutations is a feature of all patients with diabetes and is associated with glucosuriaC Bingham
Department of Vascular Medicine and Diabetes Research, School of Postgraduate Medicine and Health Sciences, University of Exeter, Devon, UK
Diabetes 50:2047-52. 2001..Glucose may depolarize and dissipate the electrical gradient of the sodium-dependent amino acid transporters in the proximal renal tubule, causing a reduction in amino acid resorption...