Lorna W Harries

Summary

Affiliation: University of Exeter
Country: UK

Publications

  1. pmc MicroRNAs as Mediators of the Ageing Process
    Lorna W Harries
    RNA mediated Mechanisms of Disease Group, Institute of Biomedical and Clinical Sciences, University of Exeter Medical School, Barrack Road, Exeter EX2 5DW, UK
    Genes (Basel) 5:656-70. 2014
  2. pmc Increased expression of miR-187 in human islets from individuals with type 2 diabetes is associated with reduced glucose-stimulated insulin secretion
    J M Locke
    Institute of Biomedical and Clinical Science, University of Exeter Medical School, Barrack Road, Exeter, EX2 5DW, UK
    Diabetologia 57:122-8. 2014
  3. pmc The splice site variant rs11078928 may be associated with a genotype-dependent alteration in expression of GSDMB transcripts
    Faer S Morrison
    RNA mediated Mechanisms of Disease Group, University of Exeter Medical School, EX2 5DW Exeter, UK
    BMC Genomics 14:627. 2013
  4. pmc A role for SPARC in the moderation of human insulin secretion
    Lorna W Harries
    Institute of Biomedical and Clinical Sciences, Exeter Medical School, University of Exeter, Exeter, United Kingdom
    PLoS ONE 8:e68253. 2013
  5. doi request reprint Long non-coding RNAs and human disease
    Lorna W Harries
    Institute of Biomedical and Clinical Sciences, Peninsula College of Medicine and Dentistry, Exeter, UK
    Biochem Soc Trans 40:902-6. 2012
  6. pmc An alternative polyadenylation signal in TCF7L2 generates isoforms that inhibit T cell factor/lymphoid-enhancer factor (TCF/LEF)-dependent target genes
    J M Locke
    Institute of Biomedical and Clinical Sciences, Peninsula College of Medicine and Dentistry, University of Exeter, Barrack Road, Exeter, EX2 5DW, UK
    Diabetologia 54:3078-82. 2011
  7. 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
  8. pmc Alterations in LMTK2, MSMB and HNF1B gene expression are associated with the development of prostate cancer
    Lorna W Harries
    Institute of Biomedical and Clinical Sciences, Peninsula NIHR Clinical Research Facility, University of Exeter, Peninsula Medical School, Exeter, Devon, UK
    BMC Cancer 10:315. 2010
  9. 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
  10. doi request reprint Messenger RNA processing and its role in diabetes
    L W Harries
    Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, UK
    Diabet Med 28:1010-7. 2011

Detail Information

Publications58

  1. pmc MicroRNAs as Mediators of the Ageing Process
    Lorna W Harries
    RNA mediated Mechanisms of Disease Group, Institute of Biomedical and Clinical Sciences, University of Exeter Medical School, Barrack Road, Exeter EX2 5DW, UK
    Genes (Basel) 5:656-70. 2014
    ..Definition of the factors involved in degeneration of organismal, tissue and cellular homeostasis may provide biomarkers for healthy ageing and increase understanding of the processes that underpin the ageing process itself. ..
  2. pmc Increased expression of miR-187 in human islets from individuals with type 2 diabetes is associated with reduced glucose-stimulated insulin secretion
    J M Locke
    Institute of Biomedical and Clinical Science, University of Exeter Medical School, Barrack Road, Exeter, EX2 5DW, UK
    Diabetologia 57:122-8. 2014
    ..MicroRNAs (miRNAs) are post-transcriptional regulators of gene expression and therefore alterations in miRNA levels may be involved in the deterioration of beta cell function...
  3. pmc The splice site variant rs11078928 may be associated with a genotype-dependent alteration in expression of GSDMB transcripts
    Faer S Morrison
    RNA mediated Mechanisms of Disease Group, University of Exeter Medical School, EX2 5DW Exeter, UK
    BMC Genomics 14:627. 2013
    ..PCR and sequence analysis of whole blood RNA samples from population controls was then carried out for the 8 most promising variants to determine the effect of genetic variation on splicing of target genes...
  4. pmc A role for SPARC in the moderation of human insulin secretion
    Lorna W Harries
    Institute of Biomedical and Clinical Sciences, Exeter Medical School, University of Exeter, Exeter, United Kingdom
    PLoS ONE 8:e68253. 2013
    ..We therefore aimed to characterise the effect of SPARC on beta-cell function and features of diabetes...
  5. doi request reprint Long non-coding RNAs and human disease
    Lorna W Harries
    Institute of Biomedical and Clinical Sciences, Peninsula College of Medicine and Dentistry, Exeter, UK
    Biochem Soc Trans 40:902-6. 2012
    ..In the present review, I outline the potential mechanisms of action of lncRNAs, the cellular processes that have been associated with them, and also explore some of the emerging evidence for their involvement in common human disease...
  6. pmc An alternative polyadenylation signal in TCF7L2 generates isoforms that inhibit T cell factor/lymphoid-enhancer factor (TCF/LEF)-dependent target genes
    J M Locke
    Institute of Biomedical and Clinical Sciences, Peninsula College of Medicine and Dentistry, University of Exeter, Barrack Road, Exeter, EX2 5DW, UK
    Diabetologia 54:3078-82. 2011
    ..The aim of this study was to seek evidence for the existence of novel TCF7L2 isoforms encoded within the type 2 diabetes-associated genomic region...
  7. 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...
  8. pmc Alterations in LMTK2, MSMB and HNF1B gene expression are associated with the development of prostate cancer
    Lorna W Harries
    Institute of Biomedical and Clinical Sciences, Peninsula NIHR Clinical Research Facility, University of Exeter, Peninsula Medical School, Exeter, Devon, UK
    BMC Cancer 10:315. 2010
    ..Most of these variants, like other GWAS association signals, are located in non-coding regions of potential candidate genes, and thus could act at the level of the mRNA transcript...
  9. 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...
  10. doi request reprint Messenger RNA processing and its role in diabetes
    L W Harries
    Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, UK
    Diabet Med 28:1010-7. 2011
    ..The potential for mRNA processing to impact on more complex causes of diabetes as well will also be considered...
  11. pmc Species-specific differences in the expression of the HNF1A, HNF1B and HNF4A genes
    Lorna W Harries
    Institute of Biomedical and Clinical Sciences, Peninsula Medical School, University of Exeter, Exeter, United Kingdom
    PLoS ONE 4:e7855. 2009
    ..We hypothesised that some differences may arise from variation in the expression profile of alternatively processed isoforms between species...
  12. 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...
  13. 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...
  14. 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...
  15. pmc Towards a gene expression biomarker set for human biological age
    Alice C Holly
    Institute of Biomedical and Clinical Science, Exeter Medical School, University of Exeter, Exeter, EX2 5DW, UK
    Aging Cell 12:324-6. 2013
    ..64, 0.74, 0.74; P = 2.4 × 10(-2) , 3.5 × 10(-4) , 1.8 × 10(-2) , 1.5 × 10(-2) , respectively). We conclude that our expression signature of age is robust across three populations and may have utility for estimation of biological age...
  16. doi request reprint Changes in splicing factor expression are associated with advancing age in man
    Alice C Holly
    Institute of Biomedical and Clinical Sciences, University of Exeter Medical School, University of Exeter, Exeter EX1 2LU, UK
    Mech Ageing Dev 134:356-66. 2013
    ..These findings suggest for the first time that ATM, a core element in the DNA damage response, is a key regulator of the splicing machinery in man. ..
  17. ncbi request reprint Different oxygen treatment pressures alter inflammatory gene expression in human endothelial cells
    Alexandra C Kendall
    University of Exeter Medical School, University of Exeter, Devon, UK
    Undersea Hyperb Med 40:115-23. 2013
    ..We noted differences in expression between different treatment pressures, highlighting the need for further research into the use of different therapeutic protocols in the treatment of inflammatory conditions such as chronic wounds...
  18. 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...
  19. pmc Human aging is characterized by focused changes in gene expression and deregulation of alternative splicing
    Lorna W Harries
    Institute of Biomedical and Clinical Sciences, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, UK
    Aging Cell 10:868-78. 2011
    ..05]. This is supported by our observation of age-associated disruption to the balance of alternatively expressed isoforms for selected genes, suggesting that modification of mRNA processing may be a feature of human aging...
  20. 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...
  21. pmc Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association
    Andrew R Wood
    Genetics of Complex Traits, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter EX1 2LU, UK
    Hum Mol Genet 20:4082-92. 2011
    ....
  22. pmc Leukocyte CCR2 expression is associated with mini-mental state examination score in older adults
    Lorna W Harries
    Institute of Biomedical and Clinical Sciences, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, United Kingdom
    Rejuvenation Res 15:395-404. 2012
    ....
  23. pmc Advancing age is associated with gene expression changes resembling mTOR inhibition: evidence from two human populations
    Lorna W Harries
    Institute of Biomedical and Clinical Sciences, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter EX2 5DW, UK
    Mech Ageing Dev 133:556-62. 2012
    ..Work is needed to establish whether these changes are predictive of human longevity and whether further mTOR inhibition would be beneficial in older people...
  24. 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...
  25. ncbi request reprint Messenger RNA transcripts of the hepatocyte nuclear factor-1alpha gene containing premature termination codons are subject to nonsense-mediated decay
    Lorna W Harries
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, U K
    Diabetes 53:500-4. 2004
    ..Haploinsufficiency is therefore likely to be the most important mutational mechanism of HNF-1alpha mutations causing MODY...
  26. doi request reprint Functional characterisation of ADIPOQ variants using individuals recruited by genotype
    Benjamin P Lee
    Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, Devon, EX2 5DW, UK
    Mol Cell Endocrinol 428:49-57. 2016
    ..These studies illustrate the utility of recruit-by-genotype studies in relevant human tissues in functional interpretation of GWAS signals. ..
  27. 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...
  28. ncbi request reprint Conditional expression of hepatocyte nuclear factor-1beta, the maturity-onset diabetes of the young-5 gene product, influences the viability and functional competence of pancreatic beta-cells
    Hannah J Welters
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Universities of Exeter and Plymouth, Research Way, Plymouth, Devon PL6 8BU, UK
    J Endocrinol 190:171-81. 2006
    ....
  29. doi request reprint Splicing factor 3B1 hypomethylation is associated with altered SF3B1 transcript expression in older humans
    Alice C Holly
    Institute of Biomedical and Clinical Sciences, University of Exeter Medical School, University of Exeter, Exeter EX2 5DW, UK
    Mech Ageing Dev 135:50-6. 2014
    ..SF3B1 encodes a critical component of the U2 snRNP; altered expression of this gene may therefore contribute to the loss of regulated mRNA splicing that occurs with age. ..
  30. 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...
  31. doi request reprint Changes in apoptotic gene expression in lymphocytes from rheumatoid arthritis and systemic lupus erythematosus patients compared with healthy lymphocytes
    Paul Eggleton
    Peninsula Medical School, University of Exeter and Royal Devon and Exeter Hospital, Exeter, UK
    J Clin Immunol 30:649-58. 2010
    ..This study examined the levels of in vitro apoptosis in lymphocytes from healthy, rheumatoid arthritis (RA) and SLE individuals and related observed differences to their lymphocyte apoptosis gene profiles...
  32. 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...
  33. pmc Investigating the targets of MIR-15a and MIR-16-1 in patients with chronic lymphocytic leukemia (CLL)
    Katy Hanlon
    Department of Haematology, Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, United Kingdom
    PLoS ONE 4:e7169. 2009
    ..Deregulation of miRNAs is common in human tumorigenesis. The miRNAs, MIR-15a/16-1, at chromosome band 13q14 are down-regulated in the majority of patients with chronic lymphocytic leukaemia (CLL)...
  34. doi request reprint Comparison of senescence-associated miRNAs in primary skin and lung fibroblasts
    Alice C Holly
    Institute of Biomedical and Clinical Sciences, University of Exeter Medical School, University of Exeter, Barrack Road, Exeter, Devon, EX1 2LU, UK
    Biogerontology 16:423-34. 2015
    ..However, miRNAs showing common effects across tissue types may represent those associated with core, rather than tissue-specific senescence processes. ..
  35. pmc Gene expression markers of age-related inflammation in two human cohorts
    Luke C Pilling
    Epidemiology and Public Health, Medical School, University of Exeter, RILD, Exeter EX2 5DW, UK
    Exp Gerontol 70:37-45. 2015
    ..We aimed to identify gene transcripts statistically mediating, as drivers or responders, the increasing levels of IL6 protein in blood at older ages...
  36. pmc Changes in CEBPB expression in circulating leukocytes following eccentric elbow-flexion exercise
    Jamie Blackwell
    Sport and Health Sciences, College of Life and Environmental Sciences, University of Exeter, St Luke s Campus, Exeter, UK
    J Physiol Sci 65:145-50. 2015
    ..Associations between CEBPB expression in blood and muscle strength may be consistent with the CEBPB-dependent muscle repair process...
  37. 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
    ....
  38. pmc CCAAT-enhancer-binding protein-beta expression in vivo is associated with muscle strength
    Lorna W Harries
    Institute of Biomedical and Clinical Sciences, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, UK
    Aging Cell 11:262-8. 2012
    ..This association may be consistent with mouse model evidence of CEBPB-triggered muscle repair: if this mechanism is confirmed, it may provide a target for intervention to protect and enhance aging muscle...
  39. 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...
  40. 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...
  41. pmc Human longevity is influenced by many genetic variants: evidence from 75,000 UK Biobank participants
    Luke C Pilling
    Epidemiology and Public Health Group, University of Exeter Medical School, RILD Level 3, Royal Devon and Exeter Hospital, Exeter, EX2 5DW, UK
    Aging (Albany NY) 8:547-60. 2016
    ..Several of these genetically influenced risks, including blood pressure and tobacco exposure, are potentially modifiable. ..
  42. pmc Evaluation of 13q14 status in multiple myeloma by digital single nucleotide polymorphism technology
    Katy Hanlon
    Institute of Biomedical and Clinical Sciences, Peninsula Medical School, Barrack Road, Exeter, EX2 5DW
    J Mol Diagn 11:450-7. 2009
    ..Digital SNP represents an attractive approach for the investigation of tumors not suitable for genomic-array analysis...
  43. doi request reprint Targeted allelic expression profiling in human islets identifies cis-regulatory effects for multiple variants identified by type 2 diabetes genome-wide association studies
    Jonathan M Locke
    Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, U K
    Diabetes 64:1484-91. 2015
    ..The results of this study support the hypothesis that changes to cis-regulation of gene expression are involved in a large proportion of SNP associations with type 2 diabetes susceptibility. ..
  44. pmc A common variant of the p16(INK4a) genetic region is associated with physical function in older people
    David Melzer
    Peninsula Medical School, RD and E Wonford Site, Barrack Road, Exeter EX2 5DW, UK
    Mech Ageing Dev 128:370-7. 2007
    ..The mechanism involved may be via greater cellular restorative activity and reduced stem cell senescence...
  45. doi request reprint MicroRNA expression profiling of human islets from individuals with and without type 2 diabetes: promises and pitfalls
    Jonathan M Locke
    Institute of Biomedical and Clinical Science, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, UK
    Biochem Soc Trans 40:800-3. 2012
    ..The present review discusses some of the potential pitfalls and promises of such an approach...
  46. doi request reprint Changes in inflammatory gene expression induced by hyperbaric oxygen treatment in human endothelial cells under chronic wound conditions
    Alexandra C Kendall
    Peninsula Medical School, University of Exeter, Exeter, Devon, EX1 2LU, UK
    Exp Cell Res 318:207-16. 2012
    ..These studies indicate that elevated oxygen transiently regulates inflammatory gene expression in endothelial cells, which may enhance chronic wound healing...
  47. ncbi request reprint Dysregulation of Hnf1b gene expression in cultured beta-cells in response to cytotoxic fatty acid
    Karen A Johnstone
    Institute of Biomedical and Clinical Science, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter, United Kingdom
    JOP 12:6-10. 2011
    ..Pancreatic beta-cells in culture are sensitive to exposure to long-chain saturated fatty acids (e.g. palmitate) which cause cytotoxicity, whereas the monounsaturated equivalents (e.g. palmitoleate) are cytoprotective...
  48. pmc A cautionary tale: the non-causal association between type 2 diabetes risk SNP, rs7756992, and levels of non-coding RNA, CDKAL1-v1
    Jonathan M Locke
    Institute of Biomedical and Clinical Science, University of Exeter Medical School, RILD Building, Barrack Road, Exeter, EX2 5DW, UK
    Diabetologia 58:745-8. 2015
    ....
  49. pmc Oxidative metabolism genes are not responsive to oxidative stress in rodent Beta cell lines
    Faer Morrison
    Institute of Biomedical and Clinical Sciences, Peninsula College of Medicine and Dentistry, University of Exeter, Barrack Road, Exeter EX2 5DW, UK
    Exp Diabetes Res 2012:793783. 2012
    ..The alterations to the expression of oxidative metabolism genes previously observed in human diabetic skeletal muscle do not appear to be mirrored in rodent pancreatic beta cells...
  50. pmc A rare SNP in pre-miR-34a is associated with increased levels of miR-34a in pancreatic beta cells
    Jonathan M Locke
    Institute of Biomedical and Clinical Science, University of Exeter Medical School, Barrack Road, Exeter, EX2 5DW, UK
    Acta Diabetol 51:325-9. 2014
    ..Given that small changes in miR-34a levels have been shown to cause increased levels of beta-cell apoptosis this finding may be of interest to studies looking at determining the effect of rare variants on type 2 diabetes susceptibility...
  51. doi request reprint PFOA and PFOS are associated with reduced expression of the parathyroid hormone 2 receptor (PTH2R) gene in women
    Tamara S Galloway
    Biosciences, College of Life and Environmental Sciences, University of Exeter, Exeter, UK
    Chemosphere 120:555-62. 2015
    ..41, p=0.046). As the parathyroid signalling cascade is a known candidate for osteoarthritis risk and our findings raise the possibility that exposure to these chemicals may contribute to the pathogenesis of OA in some individuals. ..
  52. doi request reprint Extracellular calreticulin is present in the joints of patients with rheumatoid arthritis and inhibits FasL (CD95L)-mediated apoptosis of T cells
    Joanna M Tarr
    Peninsula College of Medicine and Dentistry, and University of Exeter, Exeter, UK
    Arthritis Rheum 62:2919-29. 2010
    ..Thus, the present study was undertaken to determine which factors might inhibit FasL-Fas binding in vivo and those that would inhibit apoptosis of T lymphocytes in an in vitro model system...
  53. doi request reprint Severe intrauterine growth retardation and atypical diabetes associated with a translocation breakpoint disrupting regulation of the insulin-like growth factor 2 gene
    R 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...
  54. ncbi request reprint Reduced peripheral blood mitochondrial DNA content is not a risk factor for Type 2 diabetes
    R Singh
    Institute of Biomedical and Clinical Sciences, Peninsula Medical School, Exeter, UK
    Diabet Med 24:784-7. 2007
    ....
  55. pmc Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes
    Eleftheria Zeggini
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, OX3 7LJ, UK
    Science 316:1336-41. 2007
    ..The regions identified underscore the importance of pathways influencing pancreatic beta cell development and function in the etiology of type 2 diabetes...
  56. ncbi request reprint Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy
    Julian P H Shield
    Department of Endocrinology and Diabetes, Bristol Royal Hospital for Children and University of Bristol, Bristol, UK
    Diabetes 57:255-8. 2008
    ..5. We investigated a male with hemihypertrophy, a condition classically associated with neonatal hyperinsulinemia and hypoglycemia, who developed neonatal diabetes at age 5 weeks...
  57. pmc Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome
    Therina Theron
    Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton BN1 9RQ, United Kingdom
    Mol Cell Biol 25:8368-78. 2005
    ....