S Ellard

Summary

Affiliation: University of Exeter
Country: UK

Publications

  1. ncbi request reprint Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in HNF-1alpha gene mutation carriers
    Amanda Stride
    Department of Diabetes and Vascular Medicine, University of Exeter, Devon, UK
    Diabetes Care 25:2287-91. 2002
  2. pmc Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes
    Hana Lango Allen
    Genetics of Complex Traits, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, U K
    Diabetes 59:266-71. 2010
  3. pmc Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the -1131T>C polymorphism of the Apolipoprotein AV gene
    Kirsten J Ward
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    Lipids Health Dis 5:11. 2006
  4. pmc Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1
    Wai Man Chan
    Program in Genomics, Children s Hospital Boston, Boston, MA 02115, USA
    BMC Genet 8:26. 2007
  5. ncbi request reprint Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young
    S 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
  6. ncbi request reprint Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing
    S Ellard
    Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK
    Clin Endocrinol (Oxf) 62:169-75. 2005
  7. ncbi request reprint Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young
    Sian Ellard
    Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom
    Hum Mutat 27:854-69. 2006
  8. ncbi request reprint 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 young
    S Ellard
    Department of Diabetes and Vascular Medicine, School of Postgraduate Medicine and Health Sciences, University of Exeter, UK
    Diabetes 48:921-3. 1999
  9. ncbi request reprint No evidence for linkage at candidate type 2 diabetes susceptibility loci on chromosomes 12 and 20 in United Kingdom Caucasians
    T M Frayling
    Department of Diabetes and Vascular Medicine, School of Postgraduate Medicine and Health Sciences, University of Exeter, United Kingdom
    J Clin Endocrinol Metab 85:853-7. 2000
  10. doi request reprint Heterozygous ABCC8 mutations are a cause of MODY
    P Bowman
    Peninsula NIHR Clinical Research Facility, Peninsula Medical School, University of Exeter, Exeter, UK
    Diabetologia 55:123-7. 2012

Detail Information

Publications125 found, 100 shown here

  1. ncbi request reprint Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in HNF-1alpha gene mutation carriers
    Amanda Stride
    Department of Diabetes and Vascular Medicine, University of Exeter, Devon, UK
    Diabetes Care 25:2287-91. 2002
    ....
  2. pmc Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes
    Hana Lango Allen
    Genetics of Complex Traits, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, U K
    Diabetes 59:266-71. 2010
    ..We investigated the hypothesis that common polygenic variants that predispose to type 2 diabetes might account for the difference in age at diagnosis...
  3. pmc Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the -1131T>C polymorphism of the Apolipoprotein AV gene
    Kirsten J Ward
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    Lipids Health Dis 5:11. 2006
    ..Our results also emphasise the need for careful quality control in all molecular genetic studies, particularly while transferring genotyping methods between various ethnic groups...
  4. pmc Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1
    Wai Man Chan
    Program in Genomics, Children s Hospital Boston, Boston, MA 02115, USA
    BMC Genet 8:26. 2007
    ..To further define the spectrum of KIF21A mutations in CFEOM we have now identified all CFEOM probands newly enrolled in our study and determined if they harbor mutations in KIF21A...
  5. ncbi request reprint Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young
    S 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...
  6. ncbi request reprint Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing
    S 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...
  7. ncbi request reprint Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young
    Sian Ellard
    Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom
    Hum Mutat 27:854-69. 2006
    ..Sensitivity to treatment with sulfonylurea tablets is a feature of both HNF1A and HNF4A mutations. The identification of an HNF1A or 4A gene mutation confirms a diagnosis of MODY and has important implications for clinical management...
  8. ncbi request reprint 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 young
    S Ellard
    Department of Diabetes and Vascular Medicine, School of Postgraduate Medicine and Health Sciences, University of Exeter, UK
    Diabetes 48:921-3. 1999
  9. ncbi request reprint No evidence for linkage at candidate type 2 diabetes susceptibility loci on chromosomes 12 and 20 in United Kingdom Caucasians
    T M Frayling
    Department of Diabetes and Vascular Medicine, School of Postgraduate Medicine and Health Sciences, University of Exeter, United Kingdom
    J Clin Endocrinol Metab 85:853-7. 2000
    ..We have not confirmed in United Kingdom Caucasians the evidence for linkage previously reported on 12q and 20q. Our results highlight further the problems of replicating previous positive linkage results across different ethnic groups...
  10. doi request reprint Heterozygous ABCC8 mutations are a cause of MODY
    P 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...
  11. ncbi request reprint beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors
    T M Frayling
    Centre for Molecular Genetics, School of Postgraduate Medicine and Health Sciences, University of Exeter, Devon, UK
    Diabetes 50:S94-100. 2001
    ..There is little evidence to indicate that different mutations within the same gene have different phenotypes...
  12. pmc Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease
    C 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...
  13. ncbi request reprint 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 diabetes
    T 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%...
  14. ncbi request reprint Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young
    M 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...
  15. ncbi request reprint Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome
    L 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...
  16. doi request reprint Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia
    Se Flanagan
    Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter, UK
    Pediatr Diabetes 13:285-9. 2012
    ....
  17. ncbi request reprint Heterogeneity in young adult onset diabetes: aetiology alters clinical characteristics
    K 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...
  18. ncbi request reprint The generalized aminoaciduria seen in patients with hepatocyte nuclear factor-1alpha mutations is a feature of all patients with diabetes and is associated with glucosuria
    C 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...
  19. ncbi request reprint Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young
    S 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...
  20. ncbi request reprint 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...
  21. ncbi request reprint Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations
    N 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...
  22. pmc Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia
    S 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...
  23. pmc 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 diabetes
    E 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...
  24. doi request reprint A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients
    M 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...
  25. pmc Improved genetic testing for monogenic diabetes using targeted next-generation sequencing
    S Ellard
    Institute for Biomedical and Clinical Science, University of Exeter Medical School, Barrack Road, Exeter EX2 5DW, UK
    Diabetologia 56:1958-63. 2013
    ..Next-generation sequencing enables the simultaneous analysis of multiple genes in a single test. Our aim was to develop a targeted next-generation sequencing assay to detect mutations in all known MODY and neonatal diabetes genes...
  26. doi request reprint HNF1B deletions in patients with young-onset diabetes but no known renal disease
    E 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...
  27. pmc The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes
    B 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...
  28. ncbi request reprint 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...
  29. pmc Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations
    S 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)...
  30. ncbi request reprint Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1beta in human pancreatic development
    E 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...
  31. ncbi request reprint 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 period
    A 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...
  32. doi request reprint Pregnancy outcome in patients with raised blood glucose due to a heterozygous glucokinase gene mutation
    G 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...
  33. ncbi request reprint Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta
    C 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...
  34. pmc Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency
    E De Franco
    Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK
    Diabet Med 30:e197-200. 2013
    ..The aim of our study was to investigate the possibility of hypomorphic PDX1 mutations in a large cohort of patients with permanent neonatal diabetes and no reported pancreatic hypoplasia or exocrine insufficiency...
  35. ncbi request reprint Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis
    M 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..
  36. ncbi request reprint 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 genotype
    S 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...
  37. ncbi request reprint Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1alpha and -1beta mutations
    Ewan R Pearson
    Diabetes and Vascular Medicine, Peninsula Medical School, Exeter, UK
    Diabetes Care 27:1102-7. 2004
    ..However, physiological assessment of the HNF-1beta phenotype is limited. We aimed to test the hypothesis that the diabetes phenotype due to HNF-1beta mutations is similar to that in HNF-1alpha...
  38. ncbi request reprint Ten years of the national genetic diabetes nurse network: a model for the translation of genetic information into clinical care
    M Shepherd
    Exeter NIHR Clinical Research Facility, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK
    Clin Med 14:117-21. 2014
    ....
  39. pmc Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
    S 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...
  40. doi request reprint SLC2A2 mutations can cause neonatal diabetes, suggesting GLUT2 may have a role in human insulin secretion
    F 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...
  41. ncbi request reprint Analysis of haematopoietic chimaerism by quantitative real-time polymerase chain reaction
    L 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...
  42. pmc Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom
    J 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...
  43. ncbi request reprint A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young
    M 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...
  44. doi request reprint 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...
  45. ncbi request reprint Large variation in t(11;14)(q13;q32) and t(14;18)(q32;q21) translocation product size is confirmed by sequence analysis of PCR products
    C 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...
  46. ncbi request reprint 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
    Anna 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...
  47. ncbi request reprint A genome-wide scan in families with maturity-onset diabetes of the young: evidence for further genetic heterogeneity
    Timothy M Frayling
    Department of Diabetes and Vascular Medicine, Postgraduate School of Medicine and Health Science, University of Exeter, Exeter, U K
    Diabetes 52:872-81. 2003
    ..88 at 169-175 cM), and to chromosomes 3 (heterogeneity LOD [HLOD] score 1.27 at 124 cM) and 5 (HLOD score 1.22 at 175 cM) in 14 more strictly defined families. Our results provide evidence for further heterogeneity in MODY...
  48. ncbi request reprint Severe hyperglycemia after renal transplantation in a pediatric patient with a mutation of the hepatocyte nuclear factor-1beta gene
    Simon C Waller
    Nephro Urology Unit, Institute of Child Health, University College London and the Department of Diabetes and Vascular Medicine, School of Postgraduate Medicine and Health Sciences, University of Exeter, England
    Am J Kidney Dis 40:1325-30. 2002
    ....
  49. doi request reprint JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome
    K 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
    ....
  50. ncbi request reprint Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection
    E 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...
  51. pmc Detection of clonal T cell populations by high resolution PCR using fluorescently labelled nucleotides; evaluation using conventional LIS-SSCP
    C L Wickham
    Department of Haematology, Royal Devon and Exeter NHS Healthcare Trust, UK
    Mol Pathol 53:150-4. 2000
    ....
  52. pmc Amplification of PCR products in excess of 600 base pairs using DNA extracted from decalcified, paraffin wax embedded bone marrow trephine biopsies
    C L Wickham
    Department of Histopathology, Royal Devon and Exeter NHS Healthcare Trust, UK
    Mol Pathol 53:19-23. 2000
    ..To establish a robust method of extracting DNA from paraffin wax embedded bone marrow trephine (PBMT) biopsies for the amplification of relatively long polymerase chain reaction (PCR) products...
  53. ncbi request reprint Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes
    Lorna W Harries
    Institute of Biomedical and Clincal Sciences, Peninsula Medical School, Barrack Road, Exeter, Devon, UK
    Hum Mol Genet 15:2216-24. 2006
    ..We conclude that all three isomers may be critical for beta-cell function and could play a role in both the developing and mature beta cell...
  54. ncbi request reprint Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations
    Coralie Bingham
    Department of Vascular Medicine and Diabetes Research, School of Postgraduate Medicine and Health Sciences, University of Exeter, Devon, United Kingdom
    Kidney Int 61:1243-51. 2002
    ..Renal and uterine abnormalities have not been described in families without early-onset diabetes...
  55. pmc Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities
    Oscar Rubio-Cabezas
    Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter, UK
    Diabetes 59:2326-31. 2010
    ..Heterozygous mutations have previously been identified as a rare cause of maturity-onset diabetes of the young (MODY). We aimed to explore the potential contribution of NEUROD1 mutations in patients with permanent neonatal diabetes...
  56. doi request reprint The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development
    Lorna W Harries
    Institute of Biomedical and Clinical Sciences, Peninsula Medical School, Exeter, UK
    Diabetes 57:1745-52. 2008
    ..We characterized the spatial and developmental expression patterns of HNF4A transcripts in human tissues and investigated their role as potential moderators of the MODY phenotype...
  57. pmc Diabetes susceptibility in the Canadian Oji-Cree population is moderated by abnormal mRNA processing of HNF1A G319S transcripts
    Lorna W Harries
    Institute of Biomedical and Clinical Sciences, Peninsula Medical School, Exeter, U K
    Diabetes 57:1978-82. 2008
    ..We hypothesized that the variant site at the 3' end of exon 4 might influence splicing and characterized mRNA transcripts to investigate the mutational mechanism underlying this susceptibility to diabetes...
  58. pmc A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity
    Timothy M Frayling
    Genetics of Complex Traits, Institute of Biomedical and Clinical Science, Peninsula Medical School, Magdalen Road, Exeter, UK
    Science 316:889-94. 2007
    ..67-fold increased odds of obesity when compared with those not inheriting a risk allele. This association was observed from age 7 years upward and reflects a specific increase in fat mass...
  59. ncbi request reprint Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation
    Coralie Bingham
    Diabetes and Vascular Medicine, Peninsula Medical School, Exeter, United Kingdom
    Kidney Int 63:1645-51. 2003
    ....
  60. ncbi request reprint Etiological investigation of diabetes in young adults presenting with apparent type 2 diabetes
    Katharine R Owen
    Peninsula Medical School, Department of Diabetes and Vascular Medicine, Exeter, Devon, UK
    Diabetes Care 26:2088-93. 2003
    ..The characteristics of these groups have been described, but it is not known in which subjects investigation for etiology may be beneficial...
  61. ncbi request reprint Mutations in the glucokinase gene of the fetus result in reduced birth weight
    A 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...
  62. ncbi request reprint The laminopathies: a clinical review
    J 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...
  63. ncbi request reprint HNF4A mutation: switch from hyperinsulinaemic hypoglycaemia to maturity-onset diabetes of the young, and incretin response
    V B Arya
    Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children NHS, Trust, London The Institute of Child Health, University College London, Exeter, UK
    Diabet Med 31:e11-5. 2014
    ..We also measured the incretin response to a mixed meal in our patient...
  64. pmc Patients' understanding of genetic susceptibility testing in mainstream medicine: qualitative study on thrombophilia
    Paula 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...
  65. pmc Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene
    Ewan R Pearson
    Peninsula Medical School, Exeter, United Kingdom
    PLoS Med 4:e118. 2007
    ....
  66. ncbi request reprint Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis
    Neil V Whittock
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    Prenat Diagn 23:575-9. 2003
    ..This is the first case of molecular genetic prenatal diagnosis in any form of SCD...
  67. doi request reprint Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C
    Julia Rankin
    Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK
    Am J Med Genet A 146:1530-42. 2008
    ..This report provides further evidence of the extreme phenotypic diversity and low penetrance associated with the R644C mutation. Possible explanations for these observations are discussed...
  68. ncbi request reprint Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations
    Meena Rafiq
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    Diabetes Care 31:204-9. 2008
    ..2 mutations is well described, but less is known about changing therapy in patients with SUR1 mutations. We aimed to describe the response to sulfonylurea therapy in patients with SUR1 mutations and to compare it with Kir6.2 mutations...
  69. ncbi request reprint Hepatocyte nuclear factor-1beta gene deletions--a common cause of renal disease
    Emma L Edghill
    1Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    Nephrol Dial Transplant 23:627-35. 2008
    ..HNF-1beta gene deletions have recently been shown to cause renal malformations and early-onset diabetes...
  70. ncbi request reprint Quantitation of cyclin D1 over-expression using competitive fluorescent reverse transcription polymerase chain reaction: a tool for the differential diagnosis of mantle cell lymphoma
    C L Wickham
    Department of Molecular Genetics, Royal Devon and Exeter NHS Healthcare Trust, Exeter, Devon, England
    Med Oncol 20:77-85. 2003
    ....
  71. doi request reprint Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes
    Rinki Murphy
    Peninsula Medical School, Exeter, UK
    Nat Clin Pract Endocrinol Metab 4:200-13. 2008
    ..Finally, extrapancreatic features, such as renal disease (caused by mutations in HNF-1beta) or deafness (caused by a mitochondrial m.3243A>G mutation), usually require early treatment with insulin...
  72. doi request reprint Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata
    Carolyn Tysoe
    Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK
    Prenat Diagn 28:384-8. 2008
    ..Ser98Phe, in the emopamil binding protein (EBP) gene in order to perform a prenatal diagnostic test for X-linked dominant chondrodysplasia punctata (CDPX2) in a male foetus at 50% risk...
  73. ncbi request reprint Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes
    Anna 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...
  74. ncbi request reprint Mesangiocapillary glomerulonephritis type 2 associated with familial partial lipodystrophy (Dunnigan-Kobberling syndrome)
    Katharine R Owen
    Department of Diabetes and Vascular Medicine, Peninsula Medical School, Exeter, UK
    Nephron Clin Pract 96:c35-8. 2004
    ....
  75. doi request reprint Identification of mutations in the Kir6.2 subunit of the K(ATP) channel
    Sarah E Flanagan
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    Methods Mol Biol 491:235-45. 2008
    ..Details on DNA extraction from peripheral blood leukocytes, amplification of the KCNJ11 gene by the PCR, sequencing, and mutation detection are provided...
  76. doi request reprint Semi-automated unidirectional sequence analysis for mutation detection in a clinical diagnostic setting
    Sian 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...
  77. ncbi request reprint Phenotypic multiple endocrine neoplasia type 2B, without endocrinopathy or RET gene mutation: implications for management
    Gill Spyer
    Department of Endocrinology, Royal Devon and Exeter Hospital NHS Foundation Trust, Exeter, United Kingdom
    Thyroid 16:605-8. 2006
    ..We suggest that prophylactic thyroidectomy is unnecessary in these patients although they should still be screened for endocrinopathy on a regular basis...
  78. ncbi request reprint Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations
    Anna 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...
  79. doi request reprint Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations
    Richard A Oram
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    Am J Obstet Gynecol 203:364.e1-5. 2010
    ..Mutations of the hepatocyte nuclear factor-1β (HNF1B) gene are associated with renal and uterine abnormalities. We aimed to study the role of HNF1B mutations in a cohort with congenital uterine abnormalities...
  80. pmc Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects
    Sian Ellard
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, EX2 5DW, and Wessex Regional Genetics Labs, Salisbury District Hospital, UK
    Am J Hum Genet 81:375-82. 2007
    ..A novel mutational mechanism was observed in which a heterozygous activating mutation resulted in PNDM only when a second, loss-of-function mutation was also present...
  81. pmc Development of a quantitative real-time polymerase chain reaction assay for the detection of the JAK2 V617F mutation
    Elizabeth C Wolstencroft
    Molecular Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Barrack Rd, Exeter, UK EX2 5DW
    J Mol Diagn 9:42-6. 2007
    ....
  82. ncbi request reprint The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decay
    L W Harries
    Institute of Biomedical and Clinical Sciences, Peninsula Medical School, Barrack Road, Exeter, UK
    Hum Genet 118:214-24. 2005
    ..Our study suggests that reinitiation of translation may be an important mechanism in the evasion of NMD, but that other factors such as the distance from the native initiation codon may also play a part...
  83. ncbi request reprint Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations
    Ewan R Pearson
    Institute of Biomedical and Clinical Sciences, Peninsula Medical School, Exeter, United Kingdom
    N Engl J Med 355:467-77. 2006
    ..Diabetes results from impaired insulin secretion caused by a failure of the beta-cell K(ATP) channel to close in response to increased intracellular ATP. Sulfonylureas close the K(ATP) channel by an ATP-independent route...
  84. ncbi request reprint HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months
    Emma L Edghill
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    Diabetes 55:1895-8. 2006
    ..0001). We conclude that infants diagnosed with diabetes before 6 months of age are unlikely to have autoimmune type 1 diabetes and are most likely to have a monogenic etiology...
  85. ncbi request reprint Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood
    Sarah 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...
  86. ncbi request reprint Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings
    Emma 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...
  87. doi request reprint Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations
    Sarah E Flanagan
    Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter, United Kingdom
    Genet Test Mol Biomarkers 14:533-7. 2010
    ..Various in silico bioinformatic tools have been developed that predict the likely pathogenicity of missense variants; however, their utility within the diagnostic setting requires further investigation...
  88. ncbi request reprint A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes
    Peter Proks
    Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, UK
    Hum Mol Genet 15:1793-800. 2006
    ..Our results demonstrate that SUR1 mutations constitute a new genetic aetiology for neonatal diabetes and that they act by reducing the K(ATP) channel's ATP sensitivity...
  89. pmc Evaluation of 13q14 status in patients with chronic lymphocytic leukemia using single nucleotide polymorphism-based techniques
    Katy Hanlon
    Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK
    J Mol Diagn 11:298-305. 2009
    ..It may have applications for the analysis of other malignancies that are difficult to assess by conventional molecular techniques...
  90. ncbi request reprint Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology
    Emma L Edghill
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, United Kingdom
    JOP 11:14-7. 2010
    ..Many of the known genes causing MODY and PNDM were identified as being critical for beta cell function before their identification as a cause of monogenic diabetes...
  91. doi request reprint Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism
    Sarah E Flanagan
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, United Kingdom
    Hum Mutat 30:170-80. 2009
    ..This review focuses on reported mutations in both genes, the spectrum of phenotypes, and the implications for treatment on diagnosing patients with mutations in these genes...
  92. ncbi request reprint Analysis of gross deletions in the MEN1 gene in patients with multiple endocrine neoplasia type 1
    Martina Owens
    Department of Molecular Genetics, Royal Devon and Exeter Hospital, Peninsula Medical School, Exeter, UK
    Clin Endocrinol (Oxf) 68:350-4. 2008
    ..Some of these patients may have gross gene deletions not detected by direct DNA sequencing or mutations in the noncoding regions of the gene not examined routinely...
  93. ncbi request reprint Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA gene
    Katharine R Owen
    Department of Diabetes and Vascular Medicine, Peninsula Medical School, Barrack Road, Exeter EX2 5AX, UK
    Diabet Med 20:823-7. 2003
    ..Preliminary results from animals and man suggest that increasing subcutaneous fat by treatment with thiazolidinediones should improve insulin resistance and the associated features of this syndrome...
  94. ncbi request reprint Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation
    Bijay Vaidya
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    Clin Endocrinol (Oxf) 60:711-8. 2004
    ..We report clinical and genetic features of a new family with NAH, and highlight that premature delivery and low birth weight are important characteristics of this condition...
  95. ncbi request reprint Evidence for haploinsufficiency of the human HNF1alpha gene revealed by functional characterization of MODY3-associated mutations
    Heike Thomas
    Universitatsklinikum Essen, Institut für Zellbiologie Tumorforschung, Hufelandstrasse 55, D 45122 Essen, Germany
    Biol Chem 383:1691-700. 2002
    ..Our results suggest that haploinsufficiency of HNF1alpha is responsible for the pathogenesis of MODY3...
  96. pmc Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes
    Heidi de Wet
    Henry Wellcome Centre for Gene Function, Department of Physiology, Anatomy and Genetics, University of Oxford, Parks Road, Oxford OX1 3PT, United Kingdom
    Proc Natl Acad Sci U S A 104:18988-92. 2007
    ..Molecular modeling studies supported this idea. Because mutant channels were inhibited less strongly by MgATP, this would increase K(ATP) currents in pancreatic beta cells, thus reducing insulin secretion and producing diabetes...
  97. ncbi request reprint Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism
    Anna 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...
  98. ncbi request reprint Distinct molecular and morphogenetic properties of mutations in the human HNF1beta gene that lead to defective kidney development
    Silvia Bohn
    Institut fur Zellbiologie, Universitatsklinikum Essen, Essen, Germany
    J Am Soc Nephrol 14:2033-41. 2003
    ..The distinct properties observed in the various HNF1beta mutants may guide the classification of the phenotypes observed in patients with a mutated HNF1beta gene...
  99. ncbi request reprint Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young
    Anna 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...
  100. ncbi request reprint 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 channel
    Anna 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...
  101. pmc Rapid and sensitive real-time polymerase chain reaction method for detection and quantification of 3243A>G mitochondrial point mutation
    Rinki Singh
    Institute of Biomedical Sciences, Peninsula Medical School, Exeter, EX2 5DW UK
    J Mol Diagn 8:225-30. 2006
    ..Real-time PCR provides rapid simultaneous detection and quantification of the 3243A>G mutation to a detection limit of less than 0.1%, without post-PCR manipulation...