David Porteous

Summary

Affiliation: University of Edinburgh
Country: UK

Publications

  1. pmc Copy number variation across European populations
    Wanting Chen
    Medical Genetics Section, Centre for Molecular Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road South, Edinburgh, United Kingdom
    PLoS ONE 6:e23087. 2011
  2. pmc DISC1-binding proteins in neural development, signalling and schizophrenia
    Nicholas J Bradshaw
    Medical Genetics Section, Molecular Medicine Centre, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road South, Edinburgh, Midlothian EH4 2XU, UK
    Neuropharmacology 62:1230-41. 2012
  3. pmc Generation Scotland: the Scottish Family Health Study; a new resource for researching genes and heritability
    Blair H Smith
    University of Aberdeen, Department of General Practice and Primary Care, Foresterhill Health Centre, Westburn Road, Aberdeen, UK
    BMC Med Genet 7:74. 2006
  4. pmc A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation
    Ben S Pickard
    Medical Genetics, Molecular Medicine Centre, Univ, of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK
    BMC Med Genet 5:21. 2004
  5. pmc Generation Scotland: Donor DNA Databank; A control DNA resource
    Shona M Kerr
    Medical Genetics Section, Centre for Molecular Medicine, University of Edinburgh, Institute of Genetics and Molecular Medicine, Western General Hospital, Crewe Road, Edinburgh, UK
    BMC Med Genet 11:166. 2010
  6. pmc The Lothian Birth Cohort 1936: a study to examine influences on cognitive ageing from age 11 to age 70 and beyond
    Ian J Deary
    Department of Psychology, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK
    BMC Geriatr 7:28. 2007
  7. pmc Speeding disease gene discovery by sequence based candidate prioritization
    Euan A Adie
    Medical Genetics Section, Department of Medical Sciences, The University of Edinburgh, Edinburgh, UK
    BMC Bioinformatics 6:55. 2005
  8. ncbi request reprint The genetics and biology of DISC1--an emerging role in psychosis and cognition
    David J Porteous
    Medical Genetics Section, Molecular Medicine Centre, University of Edinburgh, Crewe Road South, Edinburgh
    Biol Psychiatry 60:123-31. 2006
  9. ncbi request reprint Disrupted in schizophrenia 1: building brains and memories
    David J Porteous
    Medical Genetics Section, Edinburgh University Centre for Molecular Medicine, Western General Hospital Campus, Crewe Road, Edinburgh EH4 2XU, UK
    Trends Mol Med 12:255-61. 2006
  10. doi request reprint How DISC1 regulates postnatal brain development: girdin gets in on the AKT
    David Porteous
    Medical Genetics Section, Molecular Medicine Centre, Institute of Genetics and Molecular Medicine, University of Edinburgh, EH4 2XU, Edinburgh, UK
    Neuron 63:711-3. 2009

Detail Information

Publications68

  1. pmc Copy number variation across European populations
    Wanting Chen
    Medical Genetics Section, Centre for Molecular Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road South, Edinburgh, United Kingdom
    PLoS ONE 6:e23087. 2011
    ....
  2. pmc DISC1-binding proteins in neural development, signalling and schizophrenia
    Nicholas J Bradshaw
    Medical Genetics Section, Molecular Medicine Centre, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road South, Edinburgh, Midlothian EH4 2XU, UK
    Neuropharmacology 62:1230-41. 2012
    ..Thus, a picture begins to emerge of DISC1 as a key hub for multiple critical developmental pathways within the brain, disruption of which can lead to a variety of psychiatric illness phenotypes...
  3. pmc Generation Scotland: the Scottish Family Health Study; a new resource for researching genes and heritability
    Blair H Smith
    University of Aberdeen, Department of General Practice and Primary Care, Foresterhill Health Centre, Westburn Road, Aberdeen, UK
    BMC Med Genet 7:74. 2006
    ....
  4. pmc A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation
    Ben S Pickard
    Medical Genetics, Molecular Medicine Centre, Univ, of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK
    BMC Med Genet 5:21. 2004
    ..We describe here a screen for telomeric abnormalities in a cohort of 69 patients in which mental retardation co-exists with severe psychiatric illness...
  5. pmc Generation Scotland: Donor DNA Databank; A control DNA resource
    Shona M Kerr
    Medical Genetics Section, Centre for Molecular Medicine, University of Edinburgh, Institute of Genetics and Molecular Medicine, Western General Hospital, Crewe Road, Edinburgh, UK
    BMC Med Genet 11:166. 2010
    ..The Generation Scotland: Donor DNA Databank (GS:3D) aims to help solve this problem by providing a resource of control DNA and plasma samples accessible for research...
  6. pmc The Lothian Birth Cohort 1936: a study to examine influences on cognitive ageing from age 11 to age 70 and beyond
    Ian J Deary
    Department of Psychology, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK
    BMC Geriatr 7:28. 2007
    ..A limitation of many studies is the lack of a sufficiently long period between cognitive assessments to examine determinants. Here, the aim is to examine influences on cognitive ageing between childhood and old age...
  7. pmc Speeding disease gene discovery by sequence based candidate prioritization
    Euan A Adie
    Medical Genetics Section, Department of Medical Sciences, The University of Edinburgh, Edinburgh, UK
    BMC Bioinformatics 6:55. 2005
    ..However, here we show that disease genes share patterns of sequence-based features that can provide a good basis for automatic prioritization of candidates by machine learning...
  8. ncbi request reprint The genetics and biology of DISC1--an emerging role in psychosis and cognition
    David J Porteous
    Medical Genetics Section, Molecular Medicine Centre, University of Edinburgh, Crewe Road South, Edinburgh
    Biol Psychiatry 60:123-31. 2006
    ..Both are potential "drug" targets. DISC1 has thus emerged as a key molecular player in the etiology of major mental illness and in normal brain processes...
  9. ncbi request reprint Disrupted in schizophrenia 1: building brains and memories
    David J Porteous
    Medical Genetics Section, Edinburgh University Centre for Molecular Medicine, Western General Hospital Campus, Crewe Road, Edinburgh EH4 2XU, UK
    Trends Mol Med 12:255-61. 2006
    ..In the long term, this might lead to the discovery of drugs that are more efficacious and safer than currently available ones...
  10. doi request reprint How DISC1 regulates postnatal brain development: girdin gets in on the AKT
    David Porteous
    Medical Genetics Section, Molecular Medicine Centre, Institute of Genetics and Molecular Medicine, University of Edinburgh, EH4 2XU, Edinburgh, UK
    Neuron 63:711-3. 2009
    ..Girdin in turn regulates AKT signaling. Thus, another facet of the role of DISC1 is established, shedding more light on fundamental brain processes and the developmental basis of major psychiatric disorders...
  11. doi request reprint Genetic causality in schizophrenia and bipolar disorder: out with the old and in with the new
    David Porteous
    Medical Genetics Section, University of Edinburgh Centre for Molecular Medicine, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
    Curr Opin Genet Dev 18:229-34. 2008
    ..Risk genes and convergent biological pathways common to both disorders are being revealed, offering hope for a better understanding of aetiological factors and for the development of biomarkers to aid in diagnosis and prognosis...
  12. pmc DISC1 at 10: connecting psychiatric genetics and neuroscience
    David J Porteous
    Molecular Medicine Centre, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK
    Trends Mol Med 17:699-706. 2011
    ....
  13. doi request reprint DISC1, PDE4B, and NDE1 at the centrosome and synapse
    Nicholas J Bradshaw
    Medical Genetics Section, Molecular Medicine Centre, Crewe Road, Edinburgh EH4 2XU, United Kingdom
    Biochem Biophys Res Commun 377:1091-6. 2008
    ..We propose that DISC1 acts as an assembly scaffold for all of these proteins and that the NDE1/NDEL1/LIS1/dynein complex is modulated by cAMP levels via PKA and PDE4...
  14. pmc A cytogenetic abnormality and rare coding variants identify ABCA13 as a candidate gene in schizophrenia, bipolar disorder, and depression
    Helen M Knight
    Division of Psychiatry, University of Edinburgh, Royal Edinburgh Hospital, Edinburgh EH10 5HF, UK
    Am J Hum Genet 85:833-46. 2009
    ..These data identify a candidate gene, highlight the genetic overlap between schizophrenia, bipolar disorder, and depression, and suggest that rare coding variants may contribute significantly to risk of these disorders...
  15. pmc Sputum proteomics in inflammatory and suppurative respiratory diseases
    Robert D Gray
    School of Molecular and Clinical Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
    Am J Respir Crit Care Med 178:444-52. 2008
    ..Markers of inflammatory activity are important for assessment and management of many respiratory diseases. Markers that are currently unrecognized may be more valuable than those presently believed to be useful...
  16. pmc NDE1 and NDEL1: multimerisation, alternate splicing and DISC1 interaction
    Nicholas J Bradshaw
    The Centre for Molecular Medicine, Western General Hospital, The University of Edinburgh, Edinburgh EH4 2XU, UK
    Neurosci Lett 449:228-33. 2009
    ..We also show that NDE1 can complex with NDEL1. Together these results predict a high degree of complexity of DISC1-mediated regulation of neuronal activity...
  17. ncbi request reprint Evolutionary constraints on the Disrupted in Schizophrenia locus
    Martin S Taylor
    Medical Genetics Section, Molecular Medicine Centre, University of Edinburgh, Crewe Road, Edinburgh EH4 2XU, UK
    Genomics 81:67-77. 2003
    ..The amino acid sequence of DISC1 is diverging rapidly, although a putative nuclear localization signal and discrete blocks of coiled coil are specifically conserved features...
  18. ncbi request reprint Detection of CFTR transgene mRNA expression in respiratory epithelium isolated from the murine nasal cavity
    Emma Holder
    Medical Genetics Section, Molecular Medicine Centre, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK
    J Gene Med 12:55-63. 2010
    ..Only the respiratory epithelium is a satisfactory model for human airway epithelium and therefore CFTR gene transfer should be specifically assessed in respiratory epithelial cells (RECs)...
  19. ncbi request reprint HIV-1 Tat protein transduction domain peptide facilitates gene transfer in combination with cationic liposomes
    Laura Hyndman
    Medical Sciences Medical Genetics, Molecular Medicine Centre, The University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
    J Control Release 99:435-44. 2004
    ..Treatment with chloroquine increased, and incubation at low temperature decreased, TLD transfection, suggesting that the endocytosis uptake pathway is involved...
  20. doi request reprint Apolipoprotein E is not related to memory abilities at 70 years of age
    Michelle Luciano
    Department of Psychology, Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, 7 George Square, Edinburgh, EH8 9JZ, UK
    Behav Genet 39:6-14. 2009
    ..04) in the analysis not controlling for IQ. Neither of these tests was significant when a correction for multiple testing was applied. APOE e4 does not influence memory abilities in a normal population of 70-year-olds...
  21. ncbi request reprint The role of ECE1 variants in cognitive ability in old age and Alzheimer's disease risk
    Gillian Hamilton
    Medical Genetics, Molecular Medicine Centre, University of Edinburgh, Edinburgh, UK
    Am J Med Genet B Neuropsychiatr Genet 159:696-709. 2012
    ..We observed significantly less expression from the 338A variant in two human neuroblastoma cell lines and speculate that this promoter may be subject to tissue-specific regulation...
  22. pmc The DISC1 pathway modulates expression of neurodevelopmental, synaptogenic and sensory perception genes
    William Hennah
    Medical Genetics Section, University of Edinburgh, Edinburgh, United Kingdom
    PLoS ONE 4:e4906. 2009
    ..There is evidence for genetic interplay between variants in DISC1 and in biologically interacting loci in psychiatric illness. DISC1 also associates with normal variance in behavioral and brain imaging phenotypes...
  23. ncbi request reprint Relationship of catechol-O-methyltransferase variants to brain structure and function in a population at high risk of psychosis
    Andrew M McIntosh
    Division of Psychiatry, University of Edinburgh, Royal Edinburgh Hospital, Edinburgh, United Kingdom
    Biol Psychiatry 61:1127-34. 2007
    ....
  24. ncbi request reprint Data integration in eHealth: a domain/disease specific roadmap
    Jenny Ure
    Generation Scotland
    Stud Health Technol Inform 126:144-53. 2007
    ..It outlines emerging strategies, recommendations and objectives for collaboration on shared ontology-building and harmonization of data for multi-site trials in this domain...
  25. pmc Disrupted in schizophrenia 1 and phosphodiesterase 4B: towards an understanding of psychiatric illness
    J Kirsty Millar
    University of Edinburgh, Medical Genetics Section, Molecular Medicine Centre, Crewe Road, Edinburgh EH4 2XU, Scotland, UK
    J Physiol 584:401-5. 2007
    ..Dysregulated cAMP signalling in specific cellular compartments may therefore be a predisposing factor for major mental illness...
  26. doi request reprint An interrupted beta-propeller and protein disorder: structural bioinformatics insights into the N-terminus of alsin
    Dinesh C Soares
    Medical Genetics Section, Molecular Medicine Centre, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Crewe Road, Edinburgh EH42XU, UK
    J Mol Model 15:113-22. 2009
    ..This study aids design of experimental studies by highlighting the importance of construct length, will enhance interpretation of protein-protein interactions, and enable rational site-directed mutagenesis...
  27. pmc A case-control association study and family-based expression analysis of the bipolar disorder candidate gene PI4K2B
    Lorna M Houlihan
    Medical Genetics Section, Molecular Medicine Centre, The University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
    J Psychiatr Res 43:1272-7. 2009
    ..There is no evidence to suggest that PI4K2B is contributing to bipolar disorder in this family but a role for this gene in schizophrenia has not been excluded...
  28. doi request reprint An immunocytochemical assay to detect human CFTR expression following gene transfer
    Heather Davidson
    Medical Genetics, School of Molecular and Clinical Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH42XU, UK
    Mol Cell Probes 23:272-80. 2009
    ..Our aim was to develop a reproducible immunocytochemical assay for human CFTR protein which can measure both endogenous CFTR levels and augmented CFTR expression after gene delivery...
  29. doi request reprint Sputum trace metals are biomarkers of inflammatory and suppurative lung disease
    Robert D Gray
    School of Molecular and Clinical Medicine, University of Edinburgh, Western General Hospital, Edinburgh, Scotland
    Chest 137:635-41. 2010
    ..Increases in sputum iron have been described in inflammatory lung disease. We hypothesized that other sputum metals may be affected by airways inflammation and investigated their potential value as biomarkers...
  30. pmc Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time
    Lorna M Houlihan
    Centre for Cognitive Ageing and Cognitive Epidemiology, Department of Psychology, The University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK
    Am J Hum Genet 86:626-31. 2010
    ..16 x 10(-30)), KNG1 (rs710446, combined p = 9.52 x 10(-22)), and HRG (rs9898, combined p = 1.34 x 10(-11)). These three SNPs explain approximately 18% of phenotypic variance in aPTT in the Lothian Birth Cohorts...
  31. ncbi request reprint Association analysis of Neuregulin 1 candidate regions in schizophrenia and bipolar disorder
    Rosie M Walker
    Medical Genetics Section, Centre for Molecular Medicine and Institute of Genetics and Molecular Medicine, Molecular Medicine Centre, Western General Hospital, University of Edinburgh, Crewe Road, Edinburgh EH4 2XU, UK
    Neurosci Lett 478:9-13. 2010
    ..022; BPD+SCZ: p(st)=0.044). This study supports the involvement of NRG1 variants in the less well studied 3' region in conferring susceptibility to SCZ and BPD in the Scottish population...
  32. pmc Whole genome association scan for genetic polymorphisms influencing information processing speed
    Michelle Luciano
    Centre for Cognitive Aging and Cognitive Epidemiology, Department of Psychology, University of Edinburgh, Scotland, UK
    Biol Psychol 86:193-202. 2011
    ..g., receptor binding, cellular metabolic process). These highlighted genes and pathways will be able to inform future research, including results for psychiatric disease...
  33. doi request reprint The effects of DISC1 risk variants on brain activation in controls, patients with bipolar disorder and patients with schizophrenia
    Goultchira Chakirova
    The University of Edinburgh, Royal Edinburgh Hospital, Edinburgh, Scotland, UK
    Psychiatry Res 192:20-8. 2011
    ..These findings may provide a better understanding of the neural effects of DISC1 variants and on the pathophysiology of schizophrenia and bipolar disorder...
  34. pmc Structural models of human eEF1A1 and eEF1A2 reveal two distinct surface clusters of sequence variation and potential differences in phosphorylation
    Dinesh C Soares
    Medical Genetics Section, Molecular Medicine Centre, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, United Kingdom
    PLoS ONE 4:e6315. 2009
    ..This may reflect the differential requirements of the cell-types in which they are expressed and is consistent with complex roles for these proteins that extend beyond delivery of tRNA to the ribosome...
  35. ncbi request reprint Candidate psychiatric illness genes identified in patients with pericentric inversions of chromosome 18
    Ben S Pickard
    Department of Medical Genetics, Molecular Medicine Centre, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK
    Psychiatr Genet 15:37-44. 2005
    ....
  36. ncbi request reprint A neuregulin 1 variant associated with abnormal cortical function and psychotic symptoms
    Jeremy Hall
    Division of Psychiatry, University of Edinburgh, Royal Edinburgh Hospital, Morningside Park, Edinburgh, EH10 5HF, UK
    Nat Neurosci 9:1477-8. 2006
    ..We show that this variant is associated with (i) decreased activation of frontal and temporal lobe regions, (ii) increased development of psychotic symptoms and (iii) decreased premorbid IQ...
  37. ncbi request reprint Optimizing aerosol gene delivery and expression in the ovine lung
    Gerry McLachlan
    Medical Genetics Section, School of Molecular and Clinical Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK
    Mol Ther 15:348-54. 2007
    ..Dose-related toxicity of GTA was reduced by aerosol administration compared to direct instillation. This large animal model will allow us to move toward clinical studies with greater confidence...
  38. ncbi request reprint Human-specific cystic fibrosis transmembrane conductance regulator antibodies detect in vivo gene transfer to ovine airways
    Heather Davidson
    Medical Sciences Medical Genetics, University of Edinburgh, Molecular Medicine Centre, Western General Hospital, Edinburgh EH4 2XU, United Kingdom
    Am J Respir Cell Mol Biol 35:72-83. 2006
    ..The strategic use of hCFTR-specific antibodies supports the utility of the normal sheep as a model for hCFTR gene transfer studies...
  39. ncbi request reprint DISC1 and PDE4B are interacting genetic factors in schizophrenia that regulate cAMP signaling
    J Kirsty Millar
    Medical Genetics Section, Molecular Medicine Centre, University of Edinburgh, Edinburgh EH4 2XU, UK
    Science 310:1187-91. 2005
    ..We propose a mechanistic model whereby DISC1 sequesters PDE4B in resting cells and releases it in an activated state in response to elevated cAMP...
  40. ncbi request reprint Disrupted in schizophrenia 1 (DISC1): subcellular targeting and induction of ring mitochondria
    J Kirsty Millar
    Medical Genetics Section, Department of Medical Sciences, The University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
    Mol Cell Neurosci 30:477-84. 2005
    ..DISC1 over-expression produces striking mitochondrial reorganization in some cells, with formation of mitochondrial ring-like structures, indicating a potential involvement of DISC1 in mitochondrial fusion and/or fission...
  41. ncbi request reprint Yeast two-hybrid screens implicate DISC1 in brain development and function
    J Kirsty Millar
    Medical Genetics Section, Department of Medical Sciences, The University of Edinburgh, Western General Hospital, Crewe Road, EH4 2XU, Edinburgh, UK
    Biochem Biophys Res Commun 311:1019-25. 2003
    ..Intriguingly, mutations in one of the proteins identified, WKL1, have been previously suggested to underlie the aetiology of catatonic schizophrenia...
  42. ncbi request reprint Potent stimulation of gene expression by histone deacetylase inhibitors on transiently transfected DNA
    Xinsheng Nan
    Medical Genetics Section, Molecular Medicine Centre, The University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, United Kingdom
    Biochem Biophys Res Commun 324:348-54. 2004
    ..Furthermore, the overall enhancement of transgene expression by HDAC inhibitors was not as pronounced as in transiently transfected cells...
  43. pmc SNP genotyping on pooled DNAs: comparison of genotyping technologies and a semi automated method for data storage and analysis
    Stephanie Le Hellard
    Medical Genetics Section, Molecular Medicine Centre, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
    Nucleic Acids Res 30:e74. 2002
    ..Finally, we describe an extension to our ACeDB database that facilitates management and analysis of the data generated by association studies...
  44. ncbi request reprint The PDE4B gene confers sex-specific protection against schizophrenia
    Benjamin S Pickard
    Medical Genetics Section, School of Clinical and Molecular Medicine, Molecular Medicine Centre, University of Edinburgh, Royal Edinburgh Hospital, Edinburgh, UK
    Psychiatr Genet 17:129-33. 2007
    ....
  45. pmc Computational comparison of human genomic sequence assemblies for a region of chromosome 4
    Colin A M Semple
    Medical Genetics Section, Department of Medical Sciences, The University of Edinburgh, Molecular Medicine Centre, Western General Hospital, Edinburgh EH4 2XU, Scotland, United Kingdom
    Genome Res 12:424-9. 2002
    ..We also show that even in a problematic region, existing software tools can be used with high-quality mapping data to produce genomic sequence contigs with a low rate of rearrangements...
  46. ncbi request reprint Are some genetic risk factors common to schizophrenia, bipolar disorder and depression? Evidence from DISC1, GRIK4 and NRG1
    Douglas H R Blackwood
    Division of Psychiatry, The University of Edinburgh, Royal Edinburgh Hospital, Edinburgh EH10 5HF, UK
    Neurotox Res 11:73-83. 2007
    ..Identifying genes implicated in the psychoses may eventually provide the basis for classification based on biology rather than symptoms, and suggest novel treatment strategies for these complex brain disorders...
  47. ncbi request reprint The NPAS3 gene--emerging evidence for a role in psychiatric illness
    Benjamin S Pickard
    Medical Genetics Section, School of Clinical and Molecular Medicine, Molecular Medicine Centre, University of Edinburgh, Edinburgh, UK
    Ann Med 38:439-48. 2006
    ..In addition, we speculate on the physiological regulation of NPAS3 and whether NPAS3 gene variation contributes to psychiatric illness at the population level...
  48. pmc Genetic variation in Hyperpolarization-activated cyclic nucleotide-gated channels and its relationship with neuroticism, cognition and risk of depression
    Andrew M McIntosh
    Division of Psychiatry, Royal Edinburgh Hospital, University of Edinburgh, Edinburgh, UK
    Front Genet 3:116. 2012
    ..The current study does not support a genetic role for HCN channels in conferring risk of depression or cognitive impairment in individuals from the Scottish population...
  49. ncbi request reprint Haplotype analysis and a novel allele-sharing method refines a chromosome 4p locus linked to bipolar affective disorder
    Stephanie Le Hellard
    Medical Genetics Section, School of Clinical and Molecular Medicine, Molecular Medicine Centre, University of Edinburgh, Scotland, United Kingdom
    Biol Psychiatry 61:797-805. 2007
    ..Previously, we described significant linkage of BPAD to a chromosome 4p locus within a large pedigree (F22). Others subsequently have found evidence for linkage of BPAD and SCZ to this region...
  50. ncbi request reprint The effects of plasmid copy number and sequence context upon transfection efficiency
    Wendy E Walker
    Molecular Medicine Centre, Department of Medicine, University of Edinburgh, Western General Hospital, Crewe Road, EH4 2XU, UK
    J Control Release 94:245-52. 2004
    ..Therefore, it seems that the plasmid content of a liposome-DNA complex need not be 100% reporter construct for optimum transfection efficiency. This discovery has potential practical utility in a number of applications...
  51. ncbi request reprint Role of DISC1 in neural development and schizophrenia
    Shaun Mackie
    Medical Genetics Section, University of Edinburgh Centre for Molecular Medicine, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK
    Curr Opin Neurobiol 17:95-102. 2007
    ..Genetic variants of DISC1 also predispose to related affective (mood) disorders. As a consequence, we can speculate on the mechanisms of DISC1 action and possible routes to treatment for these common, debilitating brain disorders...
  52. ncbi request reprint Power of direct vs. indirect haplotyping in association studies
    Stuart Thomas
    Institute of Cell, Animal and Population Biology, University of Edinburgh, Edinburgh, UK
    Genet Epidemiol 26:116-24. 2004
    ..In the context of multipurpose, prospective cohort studies (e.g., the UK Biobank study), there may be a general value in establishing a series of directly haplotyped individuals to serve as controls for a number of alternative studies...
  53. ncbi request reprint Is schizophrenia linked to chromosome 1q?
    Stuart Macgregor
    Institute of Cell, Animal and Population Biology, Ashworth Laboratory, University of Edinburgh, West Mains Road, Edinburgh, EH9 3JT, UK
    Science 298:2277; author reply 2277. 2002
  54. doi request reprint GPR50 interacts with neuronal NOGO-A and affects neurite outgrowth
    Ellen Grünewald
    Medical Genetics Section, University of Edinburgh, Molecular Medicine Centre, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh EH42XU, UK
    Mol Cell Neurosci 42:363-71. 2009
    ..The results are markedly similar to a recent study in Nogo-A KO mice and support the involvement of GPR50 in mental disorders with links to several disease mechanisms...
  55. ncbi request reprint The severe G480C cystic fibrosis mutation, when replicated in the mouse, demonstrates mistrafficking, normal survival and organ-specific bioelectrics
    Paul Dickinson
    MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
    Hum Mol Genet 11:243-51. 2002
    ....
  56. doi request reprint Biomarkers for cystic fibrosis lung disease: application of SELDI-TOF mass spectrometry to BAL fluid
    Gordon MacGregor
    School of Molecular and Clinical Medicine, University of Edinburgh, EH4 2XU, United Kingdom
    J Cyst Fibros 7:352-8. 2008
    ..For cystic fibrosis (CF) patients there is a lack of good assays of disease activity and response to new therapeutic interventions, including gene therapy. Current measures of airways inflammation severity are insensitive or non-specific...
  57. ncbi request reprint The homeobox gene BARX2 can modulate cisplatin sensitivity in human epithelial ovarian cancer
    Grant C Sellar
    Cancer Research UK Edinburgh Oncology Unit and University of Edinburgh Department of Clinical Oncology, Western General Hospital, Crewe Road South, Edinburgh EH4 2XR, Scotland, UK
    Int J Oncol 21:929-33. 2002
    ..Taken together, our data demonstrate that the homeobox gene BARX2 may be a biological factor involved in determining sensitivity or resistance to the cytotoxic effects of cisplatin...
  58. doi request reprint Tripod-like cationic lipids as novel gene carriers
    Asier Unciti-Broceta
    School of Chemistry, West Mains Road, University of Edinburgh, UK
    J Med Chem 51:4076-84. 2008
    ....
  59. pmc DISC1 in schizophrenia: genetic mouse models and human genomic imaging
    Mandy Johnstone
    Department of Psychiatry, The Royal Edinburgh Hospital, Morningside Terrace, Edinburgh EH10 5HF, UK
    Schizophr Bull 37:14-20. 2011
    ..Here, we focus on the growing literature relating genetic variation in the DISC1 pathway to functional and structural studies of the brain in humans and in the mouse...
  60. pmc Chimeric constructs endow the human CFTR Cl- channel with the gating behavior of murine CFTR
    Toby S Scott-Ward
    Department of Physiology and Pharmacology, University of Bristol, School of Medical Sciences, University Walk, Bristol BS8 1TD, United Kingdom
    Proc Natl Acad Sci U S A 104:16365-70. 2007
    ..We conclude that the NBDs of murine CFTR determine the unique gating behavior of its subconductance state, whereas NBD2 controls channel potentiation by PP(i)...
  61. pmc Response to Amar J. Klar: The chromosome 1;11 translocation provides the best evidence supporting genetic etiology for schizophrenia and bipolar affective disorders
    J Kirsty Millar
    Genetics 163:833-5; author reply 837-8. 2003
  62. ncbi request reprint Transfection efficiency and toxicity following delivery of naked plasmid DNA and cationic lipid-DNA complexes to ovine lung segments
    Michael Emerson
    Medical Genetics Section, School of Molecular and Clinical Medicine, and Department of Veterinary Pathology, College of Medicine and Veterinary Medicine, University of Edinburg, Edinburgh EH8 9AG, United Kingdom
    Mol Ther 8:646-53. 2003
    ..The severity of the inflammatory response appeared to correlate with the administered dose of DNA and was generally more severe for pDNA:GL67...
  63. ncbi request reprint Enhanced lung gene expression after aerosol delivery of concentrated pDNA/PEI complexes
    Lee A Davies
    Nuffield Department of Clinical Laboratory Sciences, University of Oxford, John Radcliffe Hospital, Oxford, UK
    Mol Ther 16:1283-90. 2008
    ..It seems likely that similar benefits might be achievable with alternative delivery routes and with other nonviral formulations...
  64. ncbi request reprint Electroporation enhances reporter gene expression following delivery of naked plasmid DNA to the lung
    Ian A Pringle
    GeneMedicine Research Group, Nuffield Department of Clinical Laboratory Sciences, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK
    J Gene Med 9:369-80. 2007
    ..Electroporation has been used to enhance gene transfer in a range of tissues. Here we assess the usefulness of electroporation for enhancing gene transfer in the lungs of mice and sheep...
  65. ncbi request reprint Identification of clinically relevant genes on chromosome 11 in a functional model of ovarian cancer tumor suppression
    Euan A Stronach
    Cancer Research UK, Edinburgh Oncology Unit, University of Edinburgh Cancer Research Centre, Edinburgh, Scotland, United Kingdom
    Cancer Res 63:8648-55. 2003
    ..The detailed contextual characterization of these genes will determine the extent of their involvement in neoplastic development...
  66. ncbi request reprint Isoform-selective susceptibility of DISC1/phosphodiesterase-4 complexes to dissociation by elevated intracellular cAMP levels
    Hannah Murdoch
    Molecular Pharmacology Group, Division of Biochemistry and Molecular Biology, Institute of Biomedical and Life Sciences, University of Glasgow, Glasgow G12 8QQ, United Kingdom
    J Neurosci 27:9513-24. 2007
    ..Thus, genetic variation in DISC1 and PDE4 that influence either isoform expression or docking site functioning may directly affect psychopathology...
  67. ncbi request reprint Behavioral phenotypes of Disc1 missense mutations in mice
    Steven J Clapcote
    Samuel Lunenfeld Research Institute at Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada
    Neuron 54:387-402. 2007
    ..This study demonstrates that Disc1 missense mutations in mice give rise to phenotypes related to depression and schizophrenia, thus supporting the role of DISC1 in major mental illness...
  68. doi request reprint CpG-free plasmids confer reduced inflammation and sustained pulmonary gene expression
    Stephen C Hyde
    Gene Medicine Research Group, Nuffield Department of Clinical Laboratory Sciences, University of Oxford, Oxford OX3 9DU, UK
    Nat Biotechnol 26:549-51. 2008
    ..Using a CpG-free pDNA expression vector, we achieved sustained (>or=56 d) in vivo transgene expression in the absence of lung inflammation...