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| David Porteous |
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Centre
for Integrative Physiology |
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| David Porteous |
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CIP links:
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 Personal Profile
ResearchProfessor Porteous was appointed Professor of Human Molecular Genetics & Medicine, University of Edinburgh, in September 1999. Professor Porteous is also Head of the Medical Genetics Section, Chairman of the Molecular Medicine Centre, University of Edinburgh and Director of the Genetics Core at the Wellcome Trust Clinical Research Facility Western General Hospital Campus. An Edinburgh first degree and PhD graduate in Genetics, Professor Porteous spent three years as a post-doctoral researcher in Oxford, before returning to Edinburgh to take up an MRC Recombinant DNA Training Fellowship with Professor Ed Southern. In 1983 he moved to the MRC Human Genetics Unit where he was closely involved in transforming the Unit into one of the leading centres in human molecular genetics. A major focus of his work is the application of knowledge emerging from the Human Genome Project to the identification of risk factors, disease processes and new treatments for common disorders prevalent in the Scottish population. This has evolved into a major collaborative initiative between the Scottish Medical Schools, the NHS in Scotland and allied research institutes called Generation Scotland (for further details see http://www.generationscotland.org), funded by the Scottish Funding Council (£1.97million) and the Chief Scientists Office (£4.4million). Generation Scotland was formally launched on 2nd February, 2006 and was the subject of an Edinburgh Lecture on that day given jointly by Professor Porteous and Professor Andrew Morris, Dundee. His own laboratory (see http://www.genetics.med.ed.ac.uk/) focuses on (a) gene therapy for the inherited lung disorder of cystic fibrosis and (b) the genetics of psychiatric illness. His work on gene therapy for cystic fibrosis includes developing the first transgenic model of the disease to show a lung defect that parallels the human disease, the first UK clinical trial of non-viral gene therapy for cystic fibrosis and the first clinical trial in Scotland, all supported by the Medical Research Council and the Cystic Fibrosis Trust. In 2000, his group joined with Imperial College London and Oxford University to form the UK Cystic Fibrosis Gene Therapy Consortium, backed to the tune of £15million over 7 years by the CF Trust to develop and apply the next generation of gene therapy. His other major area of research interest is in psychiatric genetics. To date, his group has identified six genes of major effect in determining the risk of developing schizophrenia or bipolar affective disorder. Of particular note is the identification of the DISC1 gene as a risk factor in schizophrenia, which is now recognised as one of the best validated findings in the field. The landmark paper by Millar et al, Science, 2005 was ranked 5th in the annual list of Scientific Breakthroughs of the Year by Science Magazine. This work is supported by MRC Programme Grant funding, other charities and industry (Organon Laboratories Ltd and Merck Sharpe and Dohme). Professor Porteous has published over 160 peer reviewed papers. He is a Fellow of the Royal Society of Edinburgh, the Academy of Medical Sciences and the Royal College of Physicians of Edinburgh. He provides expert advice on genetics to the European Union, the Medical Research Council, the Wellcome Trust, the Department of Health and the UK Government. He has been involved in the work of a range of Advisory Committees including the House of Commons Select Committee on Science & Technology Report on ‘Human Genetics: the science and its consequences’, the Protocol Development Committee for the UK Biobank, the Council of Scientists for the Human Frontiers Science Program and the British Medical Association Genetics Steering Group. Professor Porteous received the Chancellor’s Award for Research from the HRH Duke of Edinburgh in 2004. Funding
Team Members
Collaborations
Recent Publications2008 Chubb JE, Bradshaw NJ, Soares DC, Porteous DJ, Millar JK (2008) The DISC locus in psychiatric illness. Mol Psychiatry 13(1):36-64 Hennah W, Thomson P, McQuillin A, Bass N, Loukola A, Anjorin A, Blackwood D, Curtis D, Deary IJ, Harris SE, Isometsä ET, Lawrence J, Lönnqvist J, Muir W, Palotie A, Partonen T, Paunio T, Pylkkö E, Robinson M, Soronen P, Suominen K, Suvisaari J, Thirumalai S, Clair DS, Gurling H, Peltonen L, Porteous D (2008) DISC1 association, heterogeneity and interplay in schizophrenia and bipolar disorder. Mol Psychiatry [Epub ahead of print] Horsley AR, Gustafsson PM, Macleod K, Saunders CJ, Greening AP, Porteous D, Davies J, Cunningham S, Alton E, Innes JA (2007) Lung clearance index is a sensitive, repeatable and practical measure of airways disease in adults with cystic fibrosis. Thorax 63(2):135-40 Hyde SC, Pringle IA, Abdullah S, Lawton AE, Davies LA, Varathalingam A, Nunez-Alonso G, Green A-M, Bazzani RP, Sumner-Jones SG, Chan M, Li H, Yew NS, Cheng SH, Boyd AC, Davies JC, Griesenbach U, Porteous DJ, Sheppard DN, Munkonge FM, Alton EWFW, Gill DR (2008) CpG-free plasmids confer reduced inflammation and sustained pulmonary gene expression. Nat Biotech [epub ahead of publishing] Macgregor G, Gray RD, Hilliard TN, Imrie M, Boyd AC, Alton EW, Bush A, Davies JC, Innes JA, Porteous DJ, Greening AP (2008) Biomarkers for cystic fibrosis lung disease: Application of SELDI-TOF mass spectrometry to BAL fluid. J Cyst Fibros [Epub ahead of print] Pickard BS, Christoforou A, Thomson PA, Fawkes A, Evans KL, Morris SW, Porteous DJ, Blackwood DH, Muir WJ (2008) Interacting haplotypes at the NPAS3 locus alter risk of schizophrenia and bipolar disorder. Mol Psychiatry [Epub ahead of print] 2007 Blackwood DH, Pickard BJ, Thomson PA, Evans KL, Porteous DJ, Muir WJ (2007) Are some genetic risk factors common to schizophrenia, bipolar disorder and depression? Evidence from DISC1, GRIK4 and NRG1. Neurotox Res 11(1):73-83 Christoforou A, Le Hellard S, Thomson PA, Morris SW, Tenesa A, Pickard BS, Wray NR, Muir WJ, Blackwood DH, Porteous DJ, Evans KL (2007) Association analysis of the chromosome 4p15-p16 candidate region for bipolar disorder and schizophrenia. Mol Psychiatry 12(11):1011-1025 Clapcote, SJ, Lipina, TV, Millar, JK, Mackie, S, Christie, S, Ogawa, F, Lerch, JP, Trimble, K, Uchiyama, M, Sakuraba, Y, Kaneda, H, Shiroishi, T, Houslay, MD, Henkelman, RM, Sled, JG, Gondo, Y, Porteous, DJ, Roder, JC (2007) Behavioural phenotupes of DISC1 missense mutations in mice. Neuron 54(3):387-402 Deary IJ, Gow AJ, Taylor MD, Corley J, Brett C, Wilson V, Campbell H, Whalley LJ, Visscher PM, Porteous DJ, Starr JM (2007) The Lothian Birth Cohort 1936: a study to examine influences on cognitive ageing from age 11 to age 70 and beyond. BMC Geriatr 7(1):28 Ferrari, S, Griesenbach, U, Iida, A, Farley, R, Wright, AM, Zhu, J, Munkonge, FM, Smith, SN, You, J, Ban, H, Inoue, M, Chan, M, Singh, C, Verdon, B, Argent, BE, Wainwright, B, Jeffrey, PK, Geddes, DM, Porteous, DJ, Hyde, SC, Gray, MA, Hasegawa, M, Alton, EWFW (2007) Sendai cirus-mediated CFTR gene transfer to the airway epithelium. Gene Therapy 14(19):1371-1379 Ishizuka K, Chen J, Li W, Millar JK, Xu Y, Clapcote SJ, Hookway C, Morita M, Kamiya A, Tomoda T, Lipska BK, Roder JC, Pletnikov M, Porteous DJ, Silva AJ, Cannon TD, Kaibuchi K, Brandon NJ, Weinberger DR, Sawa A (2007) Evidence that many of the DISC1 isoforms in C57BL/6J mice are also expressed in 129S6/SvEv mice. Mol Psych 12(10): 897-899 Le Hellard, S, Lee, AJ, Underwood, S, Thomson, PA, Morris, SW, Torrance, HS, Anderson, SM, Adams, RA, Navarro, P, Christoforou, A, Houlihan, LM, Detera-Wadleigh, S, Owen, MJ, Asherson, P, Muir, WJ, Blackwood, DHR, Wray, NR, Porteous, DJ, Evans, KL (2007) Haplotype analysis and a novel allele sharing method refines a chromosome 4p locus linked to bipolar disorder and schizophrenia. Biol Psych 61(6):797-805 McIntosh AM, Baig BJ, Hall J, Job D, Whalley HC, Lymer GK, Moorhead TW, Owens DG, Miller P, Porteous D, Lawrie SM, Johnstone EC (2007) Relationship of catechol-O-methyltransferase variants to brain structure and function in a population at high risk of psychosis. Biol Psychiatry 61(10):1127-1134 McIntosh AM, Moorhead TW, Job D, Lymer GK, Muñoz Maniega S, McKirdy J, Sussmann JE, Baig BJ, Bastin ME, Porteous D, Evans KL, Johnstone EC, Lawrie SM, Hall J (2007) The effects of a neuregulin 1 variant on white matter density and integrity. Mol Psychiatry [Epub ahead of print] McLachlan G, Baker A, Tennant P, Gordon C, Vrettou C, Renwick L, Blundell R, Cheng SH, Scheule RK, Davies L, Painter H, Coles RL, Lawton AE, Marriott C, Gill DR, Hyde SC, Griesenbach U, Alton EW, Boyd AC, Porteous DJ, Collie DD (2007) Optimizing aerosol gene delivery and expression in the ovine lung. Mol Ther 15(2):348-354 Mackie, S, Millar, JK, Porteous, DJ (2007) Role of DISC1 in neural development and schizophrenia. Current Opinion in Neurobiology 17:95-102 Millar JK, Mackie S, Clapcote SJ, Murdoch H, Pickard BS, Christie S, Muir WJ, Blackwood DH, Roder JC, Houslay MD, Porteous DJ (2007) Disrupted in schizophrenia 1 and phosphodiesterase 4B: towards an understanding of psychiatric illness. J Physiol 584(Pt 2):401-405 Murdoch, H, Mackie, S, Collins, DM, Hill, EV, Bolger, GB, Klussmann, E, Porteous, DJ, Millar, JK, Houslay, MD et al (2007) Isoform-selective susceptibility of DISC1/phosphodiesterade-4 complexes to dissociation by elevated intracellular cAMP levels. J Neuroscience 27(35):9513-9524 Pickard, BS, Thomson, PA, Christoforou, A, Evans, KL, Morris, SW, Porteous, DJ, Blackwood, DH, Muir, WJ (2007) The PDE4B gene confers sex-specific protection against schizophrenia. Psychiatr Genet 17(3):129-133 Thomson PA, Christoforou A, Morris SW, Adie E, Pickard BS, Porteous DJ, Muir WJ, Blackwood DH, Evans KL (2007) Association of Neuregulin 1 with schizophrenia and bipolar disorder in a second cohort from the Scottish population. Mol Psychiatry 12(1):94-104
Adie, EA, Adams, RR, Evans, KL, Porteous, DJ, Pickard, BS (2006) SUSPECTS: enabling fast and effective prioritization of positional candidates. Bioinformatics 22(6):773-774 Davidson, H, McLachlan, G, Wilson, A, Boyd, AC, Doherty, A, MacGregor, G, Painter, HA, Smith, R, Hyde, SC, Gill, DR, Amaral, MD, Collie, DDS, Porteous, DJ, Penque, D (2006) Human specific CFTR antibodies detect in vitro gene transfer to ovine airways. Am J of Resp Cell and Mol Biol 35(1):72-83 Hall, J, Whalley, HC, Job, DE, Baig, BJ, McIntosh, AM, Evans, KL, Thomson, PA, Porteous, DJ, Cunningham-Owens, DG, Johnstone, EC, Lawrie, SM (2006) A neuregulin 1 variant associated with abnormal cortical function and psychotic symptoms. Nature Neurocscience 9:1477-1478 Hennah, W, Thomson, P, Peltonen, L, Porteous, D (2006) Beyond schizophrenia: The role of DISC1 in major mental illness. Schizophrenia Bulletin 32:409-416 McIntosh AM, Baig BJ, Hall J, Job D, Whalley HC, Lymer GK, Moorhead TW, Owens DG, Miller P, Porteous D, Lawrie SM, Johnstone EC. (2006) Relationship of Catechol-O-Methyltransferase Variants to Brain Structure and Function in a Population at High Risk of Psychosis. Biol Psychiatry Sep 30; (epub ahead of print) Pickard BS, Malloy MP, Christoforou A, Thomson PA, Evans KL, Morris SW, Hampson M, Porteous DJ, Blackwood DH, Muir WJ. (2006) Cytogenetic and genetic evidence supports a role for the kainate-type glutamate receptor gene, GRIK4, in schizophrenia and bipolar disorder. Mol Psychiatry 11(9):847-857 Pickard, BS, Pieper, AA, Porteous, DJ, Blackwood, DH, Muir, WJ (2006) The NPAS3 gene – emerging evidence for a role in psychiatric illness. Trends in Molecular Medicine 38:439-448 Porteous, DJ and Millar, JK (2006) Disrupted in schizophrenia 1: building brains and memorty, Trends in Mol Med 12(6):255-261 Porteous, DJ, Thomson, P, Brandon, NJ, Millar, JK (2006) The genetics and biology of DISC1 – an emerging role in brain order and disorder. Biol Psychiatry 60:123-131 Smith, BS, Campbell, H, Blackwood, D, Connell, J, Connor, M, Deary, IJ, Dominiczac, AF, Fitzpatrick, B, Ford, I, Jackson, C, Haddow, G, Kerr, S, Lindsay, R, McGilchrist, M, Morton, R, Murray, G, Palmer, CAN, Pell, JP, Ralston, SR, St Clair, D, Sullivan, F, Watt, G, Wold, R, Wright, A, Porteous, DJ, Morris, AD (2006) Generation Scotland: the Scottish Family Health Study; a new resource for researching genes and heritability. BMC Medical Genetics 7:74 Smith, EMD, Baillie, JK, Thompson, AAR, Irving, JB, Porteous, DJ, Webb, DJ (2006) Endothelial nitric oxide synthase polymorphisms do not influence pulmonary artery systolic pressure at altitude. High Altitude Med & Biol 7:221-227 Thomson PA, Christoforou A, Morris SW, Adie E, Pickard BS, Porteous DJ, Muir WJ, Blackwood DHR and Evans KL (2006) Association of Neuregulin 1 with schizophrenia and bipolar disorder in a second cohort from Scottish population. Molecular Psychiatry 12(1):94-104 Underwood, SL, Christoforou, A, Thomson, PA, Wray, NR, Tenesa, A, Whittaker, J, Adams, R, Le Hellard, S, Morris, SW, Blackwood, DHR, Muir, WJ, Porteous, DJ, Evans, KL (2006) Association analysis of the chromosome 4p-located G protein-coupled receptor 78 (GPR78) gene in bipolar affective disorder and schizophrenia. Mol Psy 11(4):384-394 2005 Adie EA, Adams RR, Evans KL, Porteous DJ, Pickard BS (2005) Speeding Disease Gene Discovery by Sequence Based Candidate Prioritization. BMC Bioinformatics 6:55 Brandon NJ, Schurova I, Camargo LM, Handford EJ, Duran-Jimeniz B, Hunt P, Millar JK, Porteous DJ, Shearman MS, Whiting PJ (2005) Subcellular targeting of DISC1 is dependent on a domain independent from the Nudel binding site.Molecular and Cellular Neuroscience 28 (4): 613-624 Davidson H, McLachlan G, Wilson A, Boyd AC, Doherty A, MacGregor G, Painter HA, Smith R, Hyde SC, Gill DR, Amaral MD, Collie DDS, Porteous DJ, Penque D (2005) Human specific CFTR antibodies detect in vitro gene transfer to ovine airways. Am J of Resp Cell and Mol Biol (submitted) James R, Adams RR, Christie S, Buchanan SR, Porteous DJ, Millar JK (2004) Disrupted in Schizophrenia 1 (DISC1) is a multicompartmentalized protein that predominantly localizes to mitochondria. Mol Cell Neurosci 26(1):112-122 Le Hellard S, Lee AJ, Underwood S, Thomson PA, Morris SW, Torrance HS, Anderson SM, Adams RA, Navarro P, Christoforou A, Houlihan LM, Detera-Wadleight S, Owen MJ, Asherson P, Muir WJ, Blackwood DHR, Wray NR, Porteous DJ, Evans KL (2005) Haplotype analysis and a novel allele sharing method refines a chromosome 4p locus linked to bipolar disorder and schizophrenia (submitted) Millar JK, James R, Christie S, Porteous DJ (2005) Disrupted In Schizophrenia 1(DISC1): Subcellular targeting and induction of ring mitochondria. Molecular and Cellular Neuroscience Epub Millar JK, Pickard BS, Mackie S, James R, Christie S, Buchanan SR, Malloy MP, Chubb JE, Huston E, Baillie G, Thomson PA, Hill EV, Brandon NJ, Rain J-C, Camargo C, Whiting PJ, Houslay MD, Blackwood DHR, Muir WJ, Porteous DJ (2005) DISC1 and PDE4B are interacting genetic factors in schizophrenia that regulate cAMP signalling. Science 310: 1189-1191 Montier T, Hyndman L, Delepine P, Payne CM, Doherty A, Ferec C, Porteous DJ, Boyd C (2005) KLN-47, a safe lipophosphoramide reagent, efficiently transfects large plasmids into epithelial cells. Journal of Control Rel (submitted) Pickard BS, Malloy MP, Clarke L, LeHellard S, Ewald H, Mors O, Porteous DJ, Blackwood DHR, Muir WJ (2005) Candidate psychiatric illness genes identified in patients with pericentric inversions of chromosome 18. Psy Genet 15(1):37-44 Pickard BS, Malloy MP, Christoforou A, Thomson PA, Evans KA, Morris SW, Hampson M, Porteous DJ, Muir WJ, Blackwood DHR (2005) Cytogenetic and genetic evidence supporting a role for the kainate0type glutamate receptor gene, GRIK4, in the aetiology of schizophrenia and bipolar affective disorder. Hum Mol Gen (submitted) Pickard, BS, Millar, JK, Porteous DJ, Muir, WJ, Blackwood DH. (2005) Cytogenetics and gene discovery in psychiatric disorders. Pharmacogenomics Journal 5:81-88 Porteous DJ, Porteous JW (2005) Editors, Keynes M, Edwards AWF, Peel R. A century of Mendelism in Human Genetics, CRC Press Porteous DJ, Thomson P, Brandon NJ, Millar JK (2005) The genetics and biology of DISC1 – an emerging role in brain order and disorder. Biological Psychiatry (submitted) Thomson P, Wray N, Thomson A, Condie A, Walker M, Pulford D, Muir W, Blackwood D, Porteous D (2005) Sex-specific association between bipolar affective disorder in women and GPR50, an X-linked orphan G protein-coupled receptor. Molecular Psychiatry 10(5):470-478 Thomson PA, Wray NR, Millar JK, Evans KL, Le Hellard S, Condie A, Muir WJ, Blackwood DHR, Porteous DJ (2005) Association between the TRAX/DISC locus and both bipolar disorder and schizophrenia in the Scottish population. Molecular Psychiatry 10:657-668 Thomson PA, Christoforou A, Morris SW, Pickard BS, Porteous DJ, Muir WJ, Blackwood DHR, Evans KL (2005) Association of Neuregulin 1 with schizophrenia and bipolar disorder in a second cohort from Scottish population. Molecular Psychiatry (submitted) 2004 Adie EA, Adams RR, Evans KL, Porteous DJ, Pickard BS (2004) Speeding Disease Gene Discovery by Sequence Based Candidate Prioritization. BMC Bioinformatics 6(1):55 Boyd AC, Porteous DJ (2004) Revisiting the mouse lung model for CF. Gene Therapy 11 (9): 737-738 Hyndman L, Lemoine J, Huang L, Porteous D, Boyd AC, Nan X (2004) HIV-1 Tat protein transduction domain peptide facilitates gene transfer. J Contr Rel 99:435-444 James R, Adams RR, Christie S, Buchanan SR, Porteous DJ, Millar JK (2004) Disrupted in Schizophrenia 1 (DISC1) is a multicompartmentalized protein that predominantly localizes to mitochondria. Mol Cell Neurosci 26: 112-122 Macgregor S, Visscher PM, Knott SA, Thomson P, Porteous D, Blackwood D, Muir W (2004) A genome scan and follow up study identify a bipolar disorder susceptibility locus on chromosome 1q42. Molecular Psychiatry 9(12):1083-90 Malloy MP, Pickard BS, MacIntyre D, Porteous DJ, Blackwood DHR, Muir WJ (2004) Ring 14 stably inherited from mother to daughter but with an aparent change in associated clinical phenotype. American Journal of Medical Genetics Part B – Neuropsychiatric Genetics 130B (1): 73-73 Millar JK, James R, Brandon NJ, Thomson P (2004) DISC1 and DISC2: Discovering and dissecting molecular mechanisms underlying psychiatric illness. Annals of Medicine 36 (Review) Montier T, Deldpine P, Pichon C, Ferec C, Porteous DJ, Midoux P (2004) Non-viral vectors in cystic fibrosis gene therapy: progress and challenges. Trends in Biotechnology 22: 586-592 Nan X, Hyndman L, Agbi N, Porteous DJ, Boyd AC (2004) Potent Stimulation of Gene Expression by Histone Deacetylase Inhibitors on Transiently Transfected DNA. Biochemical and Biophysical Research Communications 324: 348-54 Pickard BS, Hollox EJ, Malloy MP, Porteous DJ, Blackwood DH, Armour JA, Muir WJ (2004) A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation. BMC Med Genet 5:21-25 Pickard BS, Malloy MP, Porteous DJ, Blackwood DHR, Muir WJ (2004) Disruption of a brain transcription factor, NPAS3, is associated with schizophrenia and learning disability. Am J Med Gen 136(1):26-32 Pickard BS, Millar JK, Porteous DJ, Muir WJ, Blackwood DHR (2004) Cytogenetics and gene discovery in psychiatric disorders. Pharmacogen J 5(2):81-88 Thomas S, Porteous DJ, Visscher PM (2004) Power of direct vs. indirect haplotyping in association studies. Genet Epidemiol. 26(2):116 Thompson PJ, Mitchell TN, Free SL, Williamson KA, Hanson IM, van Heyningen V, Moore AT, Sisodiya SM (2004) Cognitive functioning in humans with mutations of the PAX6 gene. Neurology 62:1216-1218 Walker WE, Porteous DJ, Boyd AC (2004) The effects of plasmid copy number and sequence context upon transfection efficiency. Journal of Controlled Release 94 (1): 245-252 2003 Emerson M, Renwick L, Tate S, Rhind S, Milne E, Painter HA et al (2003) Transfection efficiency and toxicity following delivery of naked plasmid DNA and cationic lipid-DNA complexes to ovine lung segments. Mol Ther 8(4):646-653 MacIntyre DJ, Blackwood DHR, Porteous DJ, Pickard BS, Muir WJ (2003) Chromosomal abnormalities and mental illness. Molecular Psychiatry 8(3):275-287 Millar JK, Christie S, Porteous DJ (2003) Yeast two-hybrid screens implicate DISC1 in brain development and function. Biochem Biophys Res Commun 311(4):1019-1025 Millar JK, Thomson PA, Wray NR, Muir WJ, Blackwood DHR, Porteous DJ (2003) Response to A J S Klar: The chromosome 1;11 translocation provides the best evidence supporting genetics etiology for schizophrenia and bipolar disorders. Genetics 163: 833-835 Pickard BS, Hollox EJl, Malloy P, Porteous DJ, Blackwood DH, Armour JAL et al (2004) A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation. BMC Med Genet 13: 5:21 Porteous DJ, Evans KL, Millar JK, Pickard BS, Thomson PA, James R, MacGregor,S, Wray NR, Visscher PM, Muir WJ, Blackwood DH (2003) Genetics of schizophrenia and bipolar affective disorder: strategies to identify candidate genes. Cold Spring Harbor Symposium of Quantitative Biology 68:383-394 Stronach EA, Sellar GC, Blenkiron C, Rahiasz GJ, Taylor KJ, Miller EP, Massie CE, Al-Nafussi A, Smyth JF, Porteous DJ, Gabra H (2003) Identification of clinically relevant genes on chromosome 11 in a functional model of ovarian cancer tumor suppression. Cancer Research 63 (24): 8648-8655 Taylor SM, Devon RS, Millar JK, Porteous DJ (2003) Evolutionary constraints on the Disrupted in Schizophrenia locus. Genomics 81(1):67-77 2002 Blenkiron C, Stronach EA, Sellar GC, Rabiasz GJ, Miller EP, Porteous DJ, Smyth JF, Gabra H (2002) Identification of differentially expressed mRNAS associated with chromosome 11 transfer into the ovarian cancer cell line OVCAR3. British Journal of Cancer 86: S90-S90 Suppl Dickinson P, Smith SN, Webb S, Kilanowski FM, Campbell IJ, Taylor MS, Porteous DJ, Willemsen R, de Jonge HR, Farley R, Alton EW, Dorin JR (2002) The severe G480C cystic fibrosis mutation, when replicated in the mouse, demonstrates mistrafficking, normal survival and organ-specific bioelectrics. Human Molecular Genetics 11: 243-251 Larbig M, Jansen S, Dorsch M, Bernhard W, Bellmann B, Dorin JR, Porteous DJ, von der Hardt H, Steinmetz I, Hedrich HJ, Tuemmler B, Tschernig T (2002) Residual cftr expression varies with age in cftr(tm1Hgu) cystic fibrosis mice: Impact on morphology and physiology. Pathobiology 70 (2): 89-97 Le Hellard S, Ballereau SJ, Visscher P, Torrance HS, Pinson J, Morris SW, Thomson ML, Semple CAM, Muir WJ, Blackwood DHR, Porteous DJ, Evans KL (2002) SNP genotyping on pooled DNAs: comparison of genotyping technologies and a semi automated method for DATA storage. Nucleic Acids Research 30(15):e74 MacGregor S, Visscher PM, Knott S, Porteous D, Muir W, Millar K, Blackwood D (2002) Is schizophrenia linked to chromosome 1q?. Science 298:2277 Morrison D, FitzPatrick D, Hanson I, Williamson K, van Heyningen V, Fleck B, Jones I, Chalmers J, Campbell H (2002) National study of microphthalmia, anophthalmia, and coloboma (MAC). In Scotland: investigation of genetic aetiology. J Med Genet 39:16-22 Sellar GC, Watt KP, Li L, Nelkin BD, Rabiasz GJ, Porteous DJ, Smyth JF, Gabra H (2002) The homeobox gene BARX2 can modulate cisplatin sensitivity in human epithelial ovarian cancer. International Journal of Oncology 21:929-933 Semple CA, Morris SW, Porteous DJ, Evans KL (2002) Computational comparison of human genomic sequence assemblies for a region of chromosome 4. Genome Res (3).424-429 Tate S, MacGregor G, Davis M, Innes JA, Greening AP (2002) Airways in cystic fibrosis are acidified: detection by exhaled breath condensate. Thorax 57:926-929 Thorpe P, Stevenson BJ, Porteous D.J (2002) Optimising gene repair strategies in cell culture. Gene Therapy 9: 700-702 Thorpe PH, Stevenson BJ, Porteous DJ (2002) Functional correction of episomal mutations with short DNA fragments and RNA-DNA oligonucleotides. Journal of Gene Medicine. Journal of Gene Medicine 4(2):195-204 2001 Blackwood D, Muir W (2001) Molecular genetics and the epidemiology of bipolar disorder. Annals of Medicine 33:242-247 Blackwood DHR, Visscher PM, Muir WJ (2001) Genetic studies of Biopolar Affective Disorder in large families. British Journal of Psychiatry 178(suppl 41) 134-136 Blackwood DHR, Fordyce A, Walker MT, St Clair D, Porteous DJ, Muir WJ (2001) Schizophrenia and affective disorders - cosegregation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: clinical and P300 findings in a family. Am J Hum Genet 69(2):428-33 Blackwood DHR, Visscher PM, MuirWJ (2001) Genetic studies of bipolar affective disorder in large families. British Journal of Psychiatry Supplement, 41:s134-6. Review Blenkiron C, Sellar GC, Stronach E, Rabiasz GJ, Miller EP, Porteous DJ, Smyth JF, Gabra H, (2001) Functional identification of RALDH2 dysregulation by cDNA representational difference analysis in chromosome 11 mediated growth suppression of ovarian cancer. British Journal of Cancer 85: 73-73 Suppl Børglum AD, Hampson M, Kjeldsen TE, Muir W, Murray V, Ewald H, Mors O, Blackwood D, Kruse TA (2001) Dopa decarboxylase genotypes may influence age at onset of schizophrenia and bipolar affective disorder. Psychiatric Genetics 11:71-78 Boyd AC (2001) British Pharmaceutical Society - 138th Annual Conference. Controlled release technology for infectious diseases. (Meeting report) Drugs 4: 1228-1231 Boyd AC (2001) Gene therapy for cystic fibrosis. (Review) Exp Opin Ther Patents 11: 1-15 Chambers DM, Rouleau G, Abbott CM (2001) Comparative genomic analysis of genes encoding translation elongation factor 1Ba (EEF1B) in human and mouse shows “EEF1B1” to be a recent retrotransposition event. Genomics 77:145-148 Devon RS, Anderson S, Teague PW, Burgess P, Kipari TM, Semple CA, Millar JK, Muir WJ, Murray V, Pelosi AJ, Blackwood DH, Porteous DJ (2001) Identification of polymorphisms within disrupted in schizophrenia 1 and disrupted in schizophrenia 2, and an investigation of their association with schizophrenia and bipolar affective disorder. Psychiatric Genetics 11:71-78 Devon RS, Anderson S, Teague P, Muir WJ, Murray V, Pelosi AJ, Blackwood DHR, Porteous DJ (2001) The genomic organisation of the metabotropic glutamate receptor subtype 5 gene and its association with schizophrenia. Molecular Psychiatry 6:311-314 Evans KL, Le Hellard S, Morris SW, Lawson D, Whitton C, Semple CAM, Fantes J, Torrance H, Malloy MP, Maule J, Humphray SJ, Ross MT, Bentley D, Muir WJ, Blackwood DHR, Porteous DJ (2001) A 6.9Mb high resolution BAC/PAC contig of human 4p15.3-p16.1, a candidate region for bipolar affective disorder. Genomics 71:315-323 Evans KL, Muir WJ, Blackwood DHR, Porteous DJ (2001) Nuts and bolts of psychiatric genetics. Trends Genet 17:37-40 Hanson IM (2001) Mammalian homologues of the Drosophila eye specification genes. Seminars in Cell & Developmental Biology 12: 475-484 Le Hellard S, Semple CA, Morris S, Porteous D J, Evans KL (2001) Physical mapping: integrating computational and molecular genetic data. Annals Of Human Genetics 65:221-228 Lerer B, Macciardi F, Segman RH, Adolfsson R, Blackwood D, Blairy S, Del Favero J, Dikeos DG, Kaneva R, Lilli R, Massat I, Milanova V, Muir W, Noethen M, Oruc L, Petrova T, Papadimitriou GN, Rietschel M, Serretti A, Souery D, Van Gester S, Van Broeckhoven D, Mendlewicz J (2001) Variability of 5-HT2C receptor cys23ser polymorphism among European populations and vulnerability to affective disorder. Molecular Psychiatry 6:579-585 Massat I, Souery D, Del-Favero J, Van Gestel S, Serretti A, Macciardi F, Smeraldi E, Kaneva R, Adolfsson R, Nylander PO, Blackwood D, Muir W, Papadimitriou GN, Dikeos D, Oruc L, Jakovljevic M, Folnegovic V, Aschauer H, Ackenheil M, Fuchshuber S, Dam H, Peltonen L, Hilger C, Hentges F, Staner L, Milanova V, Jazin E, Lerer B, Van Broeckhoven C, Mendlewicz J, (2001) Positive association of dopamine D2 recepor polymorphism with Bipolar Affective Disorder in a European multicentre association study of affective disorders. Molecular Psychiatry 114(2):177-185 Millar JK, Christie S, Anderson S, Lawson D, Hsiao-Weh Loh D, Devon RS, Arveiler B, Muir WJ, Blackwood DHR, Porteous DJ (2001) Genomic structure and localisation with a linkage hotspot of Disrupted In Schizophrenia 1, a gene disrupted by a translocation segregating with schizophrenia. Molecular Psychiatry 6:173-178 Moore RC, Xiang F, Monaghan J, Han D, Zhang Z, Edstrom L, Anvret M, Prusiner SB (2001) Huntington's disease phenocopy is a familial prion disease. Am J Hum Genet 69:1385-1388 Moore RC, Mastrangelo P, Bouzamondo E, Heinrich C, Legname G, Prusiner SB, Hood L, Westaway D, DeArmond SJ, Tremblay P (2001) Doppel-induced cerebellar degeneration in transgenic mice. Proc Natl Acad Sci USA 98:15288-15293 Muir WJ, Thomson ML, McKeon P, Mynett-Johnson L, Evans KL, Porteous DJ, Blackwood DHR (2001) Markers close to the dopamine D5 receptor gene (DRD5) show significant association with schizophrenia but not bipolar disorder. American Journal Of Medical Genetics 105:152-158 Nan X, Bird A (2001) The biological functions of the methyl-CpG-binding protein MeCP2 and its implication in Rett syndrome. Brain and Development 23:S32-S37 Paige AJ, Taylor KJ, Taylor C, Hillier SG, Farrington S, Scott D, Porteous DJ, Smyth JF, Gabra H, Watson JEV (2001) WWOX: A candidate tumor suppressor gene involved in multiple tumor types. Proc Nat Acad Sci 98:11417-11422 Pickard B, Dean W, Engemann S, Bergmann K, Fuermann M, Jung M, Reis A, Allen N, Reik W, Walter J. (2001) Epigenetic targeting in the mouse zygote marks DNA for later methylation: a mechanism for maternal effects in development. Mech Dev 103(1-2):35-47 Robson AG, Innes JA (2001) Short term variability of single breath carbon monoxide transfer factor. Thorax 56(5):358-361 Sellar GC, Watt KP, Nelkin BD, Rabiasz GJ, Stronach EA, Miller EP, Porteous DJ, Smyth JF, Gabra H (2001) BARX induces cadherin 6 expression and is a functional suppressor of ovarian cancer progression. Cancer Research 61: 6977-6981 Semple CAM, Devon RS, Le Hellard S, Porteous DJ (2001) Identification of genes from a schizophrenia-linked translocation breakpoint region. Genomics 73:123-126 Semple CAM, Evans KL, Morris SW, Porteous DJ (2001) Comparing human genome mapping data. Science 293:2394-2395 Semple CAM, Evans KL, Porteous DJ (2001) Twin peaks: the draft human genome sequence. Genome Biology 2(3). Comment Sisodiya S, Free SL, Williamson KA, Mitchell TN, Willis C, Stevens JM, Kendall BE, Shorvon SD, Hanson IM, Moore AT, Van Heyningen V (2001) PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans. Nature Genetics 28: 214-216 Simpson AJ, Cunningham GA, Porteous DJ, Haslett C, Sallenave JM (2001) Regulation of adenovirus-mediated elafin transgene expression by bacterial lipopolysaccharide. Hum Gene Ther 20;12:1395-1406 Simpson AJ, Wallace WA, Marsden ME, Govan JR, Porteous DJ, Haslett C, Sallenave JM (2001) Adenoviral augmentation of elafin protects the lung against acute injury mediated by activated neutrophils and bacterial infection. J Immunol 167:1778-1786 Souery D, Van Gestel S, Massat I, Blairy S, Adolfsson R, Blackwood D, Del-Favero J, Dikeos D, Jakovljevic M, Kaneva R, Lattuada E, Lerer B, Lilli R, Milanova V, Muir W, Nothen M, Oruc L, Papadimitriou G, Propping P, Schulze T, Serretti A, Shapira B, Smeraldi E, Stefanis C, Thomson M, Van Broeckhoven C, Mendlewicz J (2001) Tryptophan hydroxylase polymorphism and suicidality in unipolar and bipolar affective disorders: a multicenter association study. Biological Psychiatry 49: 405-409 Stronach EA, Sellar GC, Blenkiron C, Rabiasz GJ, Massey C, Porteous DJ, Smyth JF, Gabra H (2001) Identification of putative ovarian cancer tumour suppressor genes from chromosome (chr) 11 by expression difference analysis. British Journal of Cancer 85: 73-73 Suppl Taylor MS (2001) Characterization and comparative analysis of the EGLN gene family. Gene 275:132 Taylor MS (2001) More biology from the sequence. Genome Biology 2: Reports 4018- Visscher PM, Yazdi MH, Jackson AD, Schalling M, Lindblad K, Yuan Q, Porteous DJ, Muir WJ, Blackwood DHR (2001) Genetic survival analysis of age-at-onset of bipolar disorder: evidence for anticipation or cohort effect in families. Psychiatric Genetics 11:129-137 Valenza-Schaerly P, Pickard B, Walter J, Jung M, Pourcel L, Reik W, Gauguier D, Vergnaud G, Pourcel C (2001) A dominant modifier of transgene methylation is mapped by QTL analysis to mouse chromosome 13. Genome Res 11(3):382-388 Visscher PM, Yazdi MH, Jackson AD, Schalling M, Linblad K, Yuan QP, Porteous D, Muir WJ, Blackwood D (2001) Genetic survival analysis of age-at-onset of Bipolar Disorder. Evidence for anticipation and a year-of-birth effect in families. Psychiatric Expression of inducible nitric oxide synthase in nasal mucosa of stable cystic fibrosis patients. Journal Of Pathology (GENERIC). Ref Type: Submitted Visscher PM, Yazdi MH, Jackson AD, Schalling M, Lindblad K, Yuan QP, Porteous D, Muir WJ, Blackwood DHR (2001) Genetic survival analysis of age-at-onset of bipolar disorder: evidence for anticipation or cohort effect in families. Psychiatric Genetics 11(3): 129-137 Warner JP, Gilfillan AJ, Porteous DJ, Fitzpatrick DR, Porteous ME, (2001) An unusual pedigree illustrating the dilemmas posed by screening for the cystic fibrosis mutation R117H. American Journal of Human Genetics 6 (4): 1482 Suppl
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