Publication Archives 2007

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Human Genetics Unit: Staff Papers 2007

 

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  1. Alanentalo, T; Asayesh, A.; Morrison, H.; Loren, C.E.; Holmberg, D.; Sharp, J. and Ahlgren, U. Tomographic molecular imaging and 3D quantification within adult mouse organs.
    Nature Methods 4(1):31-3, 2007
    PubMed Abstract

  2. Andersen, K.M.; Semple, C.A. and Hartmann-Petersen, R. Characterisation of the nascent polypeptide-associated complex in fission yeast.
    Mol Biol Rep
    34(4):275-81, 2007
    PubMed Abstract

  3. Asai-Coakwell, M.; French, C.R.; Berry, K.M.; Ye, M.; Koss, R.; Somerville, M.; Mueller, R.; van Heyningen, V.; Waskiewicz, A.J. and Lehmann, O.J. GDF6, a Novel Locus for a Spectrum of Ocular Developmental Anomalies. American Journal of Human Genetics 80: 306-315, 2007
    PubMed Abstract

  4. Bamiou, D-E.; Campbell, N.G.; Musiek, F.E.; Taylor, R.; Chong, W.K.; Moore, A.; van Heyningen, V.; Free, S.; Sisodiya, S. and Luxon, L.M. Auditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutation. International Journal of Audiology 46:196-202, 2007
    PubMed Abstract

  5. Bamiou, D.E.; Free, S.L.; Sisodiya, S.M.; Chong, W.K.; Musiek, F.; Williamson, K.A.; van Heyningen, V.; Moore, A.T.; Gadian, D. and Luxon, L.M. Auditory Interhemispheric Transfer Deficits, Hearing Difficulties, and Brain Magnetic Resonance Imaging Abnormalities in Children With Congenital Aniridia Due to PAX6 Mutations. Arch Pediatr Adolesc Med 161:463-469, 2007
    PubMed Abstract

  6. Barnetson, R.A.; Devlin, L.; Miller, J.; Farrington, S.M.; Slater, S.; Drake, A.C.; Campbell, H.; Dunlop, M.G., and Porteous, M.E. Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer.
    Clin Genet 72(6):551-555, 2007
    PubMed Abstract

  7. Boland, E.; Clayton-Smith, J.; Woo, V.G.; McKee, S.; Manson, F.D.; Medne, L.; Zackai, E.; Swanson, E.A.; Fitzpatrick, D.; Millen, K.J.; Sherr, E.H.; Dobyns, W.B. and Black, G.C. Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.
    Am.J.Hum.Genet.
    81:292-303, 2007 PubMed Abstract

  8. Bolcun-Filas, E.; Costa, Y.; Speed, R.; Taggart, M.; Benavente, R.; de Rooij, D.G. and Cooke, H.J. SYCE2 is required for synaptonemal complex assembly, double strand break repair, and homologous recombination.
    J Cell Biol 176:741-747, 2007
    PubMed Abstract


  9. Brinckmann, A.; Ruther, K.; Williamson, K.; Lorenz, B.; Lucke, B.; Nurnberg, P.; Trijbels, F.; Janssen, A. and Schuelke, M. De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease. J.Mol.Med. 85:163-168, 2007
    PubMed Abstract

  10. Brunk, K.; Vernay B, Griffith E, Reynolds NL, Strutt D, Ingham PW, Jackson AP Microcephalin coordinates mitosis in the syncytial Drosophila embryo. Journal of Cell Science 120:3578-3588, 2007
    PubMed Abstract


  11. Burn, S.F. and Hill, R.E. A regulatory region upstream of Nks2.5 dives spleen and pyloric sphincter expression. Developmental Biology 295:381-392, 2007

  12. Burger, A. Agent Technologies in the Life Sciences. In: Semantic Web Revolutionizing Knowledge Discovery in the Life Sciences. Baker, J.O. and Cheung, K.H.  (Eds.) Springer, 2007, 341-354

  13. Caceres, J.F.; and Misteli, T. Minor Splicing in the Cytoplasm. Cell 131:645-647, 2007
    PubMed Abstract

  14. Caceres, J.F.; Krainer, A.R. and Kornblihtt, A.R. The pathology of pre-mRNA splicing: a meeting in the Italian Alps. Workshop on Pre-mRNA Processing and Disease.
    EMBO Reports
    8(8), 730-734, 2007
    PubMed Abstract

  15. Campbell, H.; Carothers, A.D.; Rudan, I.; Hayward, C.; Biloglav, Z.; Barac, L.; Pericic, M.; Janicijevic, B.; Smolej-Narancic, N.; Polasek, O.; Kolcic, I.; Weber, J.L.; Hastie, N.D.; Rudan, P. and Wright, A.F. Effects of genome-wide heterozygosity on a range of biomedically relevant human quantitative traits
    Hum Mol Genet 16(2) 233-41, 2007 PubMed Abstract

  16. Chakarova CF, Papaioannou MG, Khanna H, Lopez I, Waseem N, Shah A, Theis T, Friedman J, Maubaret C, Bujakowska K, Veraitch B, El Aziz MM, Prescott dQ, Parapuram SK, Bickmore WA, Munro PM, Gal A, Hamel CP, Marigo V, Ponting CP, Wissinger B, Zrenner E, Matter K, Swaroop A, Koenekoop RK, Bhattacharya SS Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy.
    Am.J.Hum.Genet. 81:1098-1103, 2007 Pubmed Abstract

  17. Christoforou, A.; Le Hellard, S.; Thomson, P.A.; Morris, S.W.; Tenesa, A.; Pickard, B.S.; Wray, N.R.; Muir, W.J.; Blackwood, D.H.; Porteous, D.J. and Evans, K.L. Association Analysis of The Chromosome 4p15-16 Candidate region in Biopolar Disorder and Schizophrenia. Molecular Psychiatry 12(11):1011-25, 2007
    Pubmed Abstract


  18. Clapp, J.; Mitchell, L.M.; Bolland, D.J.; Fantes, J.; Corcoran, A.E.; Scotting, P.J.; Armour, J.A., and Hewitt, J.E. Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy.
    Am.J.Hum.Genet. 81(2): 264-279, 2007 PubMed Abstract

  19. Costa, Y. and Cooke H.J. Dissecting the mammalian synaptonemal complex using targeted mutations.
    Chromosome Res
    15:579-589, 2007 PubMed Abstract

  20. Cotton, R.G.; 2006 Human Genome Project; Appelbe, W.; Auerbach, A.D.; Becker, K.; Bodmer, W.; Boone, D.J.; Boulyjenkov, V.; Brahmachari, S.; Brody, L.; Brookes, A.; Brown, A.F.; Byers, P.; Cantu, J.M.; Cassiman, J.J.; Claustres, M.; Concannon, P.; Cotton, R.G.; den Dunnen, J.T.; Flicek, P.; Gibbs, R.; Hall, J.; Hasler, J.; Katz, M.; Kwok, P.Y.; Laradi, S.; Lindblom, A.; Maglott, D.; Marsh, S.; Masimirembwa, C.M.; Minoshima, S.; de Ramirez, A.M.; Pagon, R.; Ramesar, R.; Ravine, D.; Richards, S.; Rimoin, D.; Ring, H.Z.; Scriver, C.R.; Sherry, S.; Shimizu, N.; Stein, L.; Tadmouri, G.O.; Taylor, G. and Watson, M. Recommendations of the 2006 Human Variome Project meeting.
    NatGenet
    39:433-436, 2007
    PubMed Abstract

  21. Cotton, R.G.H.; Auerbach, A.D.; Brown, A.F.; Carrera, P.; Christodoulou, J.; Claustres, M.; Compton, J.; Cox, D.W.; De Baere, E.; den Dunnen, J.T.; Greenblatt, M.; Fujiwara, M.; Hilbert, P.; Jani, A.; Lehvaslaiho, H.; Nebert, D.W.; Vihinen, M.; Members of the Human Genome Variation Society the Human Variome Project Diagnostic Laboratory Working Group. A Structured Simple Form for Ordering Genetic Tests Is Needed to Ensure Coupling of Clinical Detail (Phenotype) with DNA Variants (Genotype) to Ensure Utility in Publication and Databases.
    Human Mutation 28(10):931-932, 2007 PubMed Abstract

  22. Coull, D.B.; Lee, F.D.; Anderson, J.H.; McKee, R.F.; Finlay, I.G., and Dunlop, M.G Long-term cancer risk of the anorectal cuff following restorative proctocolectomy assessed by p53 expression and cuff dysplasia.
    Colorectal Dis
    9:321-327, 2007
    PubMed Abstract

  23. Dorin, J.R. and Jackson, I.J. Genetics. Beta-defensin repertoire expands. Science 318(5855):1395, 2007
    PubMed Abstract


  24. Dunleavy, E.M.; Pidoux, A.L.; Monet, M.; Bonilla, C.; Richardson, W.; Hamilton, G.L.; Ekwall, K.; McLaughlin, P.J., and Allshire, R.C. A NASP (N1/N2)-related protein, Sim3, binds CENP-A and is required for its deposition at fission yeast centromeres.
    Mol Cell 28(6):1029-1044, 2007
    PubMed Abstract


  25. Espada, J.; Ballestar, E.; Santoro, R.; Fraga, M.F.; Villar-Garea, A.; Nemeth, A.; Lopez-Serra, L.; Ropero, S.; Aranda, A.; Orozco, H.; Moreno, V.; Juarranz, A.; Stockert, J.C.; Langst, G.; Grummt, I.; Bickmore, W. and Esteller, M. Epigenetic disruption of ribosomal RNA genes and nucleolar architecture in DNA methyltransferase 1 (Dnmt1) deficient cells.
    Nucleic Acids Res 35:2191-2198, 2007 PubMed Abstract

  26. Finlan, L.E. and Hupp, T.R. p63: The Phantom of the Tumor Suppressor.
    Cell Cycle 6(9): 1062-1071, 2007
    PubMed Abstract

  27. Fitzpatrick, D.R Genetic Metabolic Disease. In: Fetal and Neonatal Pathology. Keeling, J.W. and Khong, T.Y. (Eds.) Springer, 2007, 162-183

  28. Fortes, P.; Longman, D.; McCracken, S.; Ip, J.; Poot, R.; Mattaj, I.W.; Caceres, J.F. and Blencowe, B.J. Identification and characterization of RED120: a conserved PWI domain protein with links to splicing and 3D'-end formation.
    FEBS Letters 581:3087-3097, 2007
    PubMed Abstract


  29. Fraser, P. and Bickmore, W. Nuclear organization of the genome and the potential for gene regulation.
    Nature 447(7143):413-417, 2007
    PubMed Abstract

  30. Gilbert, N.; Thomson, I.; Boyle, S.; Allan, J.; Ramsahoye, B. and Bickmore, W.A. DNA methylation affects nuclear organization, histone modifications, and linker histone binding but not chromatin compaction. Journal of Cell Biology 177(3):401-411, 2007
    PubMed Abstract


  31. Gout, A.M.; Martin, N.C.; Brown, A.F. and Ravine, D. PKDB: Polycystic Kidney Disease Mutation Database-A Gene Variant Database for Autosomal Dominant Polycystic Kidney Disease.
    Human Mutation
    28(7):654-9, 2007 PubMed Abstract

  32. Grzmil, M.; Whiting, D.; Maule, J.; Anastasaki, C.; Amatruda, J.F.; Kelsh, R.N.; Norbury, C.J. and Patton, E.E. The INT6 cancer gene and MEK signaling pathways converge during zebrafish development. PLoS.ONE. 2(9): e959, 2007 PubMed Abstract

  33. Guil, S. and Caceres, J.F. The multifunctional RNA-binding protein hnRNP A1 is required for processing of miR-18a. Nature Structural & Molecular Biology14(7):591-6, 2007
    PubMed Abstract

  34. Guil, S. and Caceres, J.F. Stressful Splicing. Molecular
    Cell 28:180-181, 2007
    PubMed Abstract

  35. Harris SE, Fox H, Wright AF, Hayward C, Starr JM, Whalley LJ, Deary IJ A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
    BMC Genet 8:43, 2007
    PubMed Abstract

  36. Heard, E. and Bickmore, W. The ins and outs of gene regulation and chromosome territory organisation.
    Curr Opin Cell Biol
    19(3):311-6, 2007 PubMed Abstract

  37. Henderson, R.A.; Williamson, K.; Cumming, S.; Clarke, M.P.; Lynch, S.A.; Hanson, I.M.; Fitzpatrick, D.R.; Sisodiya, S. and van Heyningen, V. Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. European Journal of Human Genetics 15(8):898-901, 2007
    PubMed Abstract

  38. Hewitt, A.W.; Kearns, L.S.; Jamieson, R.V.; Williamson, K.A.; van Heyningen, V. and Mackey, D.A. PAX6 Mutations May Be Associated with High Myopia.
    Ophthalmic Genetics 28:179-182, 2007 PubMed Abstract

  39. Higgins, C.D.; Swerdlow, A.J.; Schoemaker, M.J.; Wright, A.F. and Jacobs, P.A. Mortality and cancer incidence in males with Y polysomy in Britain: a cohort study. Hum Genet 121:691-696, 2007
    PubMed Abstract


  40. Hill, R.E. How to make a zone of polarizing activity: Insights into limb development via the abnormality preaxial polydactyly. Development Growth & Differentiation 49(6):439-448, 2007
    PubMed Abstract

  41. Ijpenberg, A.; Perez-Pomares, J.M.; Guadix, J.A.; Carmona, R.; Portillo-Sanchez, V.; Macias, D.; Hohenstein, P.; Miles, C.M.; Hastie, N.D., and Munoz-Chapuli, R. Wt1 and retinoic acid signaling are essential for stellate cell development and liver morphogenesis.
    Dev Biol 312(1):157-170, 2007
    PubMed Abstract

  42. Ivkovic, V.; Vitart, V.; Rudan, I.; Janicijevic, B.; Smolej-Narancic, N.; Skaric-Juric, T.; Barbalic, M.; Polasek, O.; Kolcic, I.; Biloglav, Z.; Visscher, P.M.; Hayward, C.; Hastie, N.D.; Anderson, N.; Campbell, H.; Wright, A.F.; Rudan, P. and Deary, I.J. The Eysenck personality factors: Psychometric structure, reliability, heritability and phenotypic and genetic correlations with psychological distress in an isolated Croatian population. Personality and Individual Differences 42:123-133, 2007

  43. Jackson, I.J.; Budd, P.S.; Keighren, M. and Mckie, L. Humanized MC1R transgenic mice reveal human specific receptor function. Human Molecular Genetics 16(19):2341-2348, 2007
    PubMed Abstract

  44. Kalscheuer, V.M.; Fitzpatrick, D.; Tommerup, N.; Bugge, M.; Niebuhr, E.; Neumann, L.M.; Tzschach, A.; Shoichet, S.A.; Menzel, C.; Erdogan, F.; Arkesteijn, G.; Ropers, H.H., and Ullmann, R. Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.
    Hum Genet 121:501-509, 2007
    PubMed Abstract

  45. Keegan, L.P.; Rosenthal, J.J.; Robertson, L.M. and O'Connell, M.A. Purification and Assay of ADAR Activity. Methods of Enzymology 424:301-317, 2007
    PubMed Abstract

  1. Kline, A.D.; Krantz, I.D.; Sommer, A.; Kliewer, M.; Jackson, L.G.; Fitzpatrick, D.R.; Levin, A.V. and Selicorni, A. Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet A 143(12):1287-1296, 2007
    PubMed Abstract


  2. Knowles, G.; Sherwood, L.; Dunlop, M.G.; Dean, G.; Jodrell, D.; McLean, C., and Preston, E. Developing and piloting a nurse-led model of follow-up in the multidisciplinary management of colorectal cancer.
    Eur.J.Oncol.Nurs.
    11:212-223, 2007
    PubMed Abstract


  3. Kress, C., Morey, C., Sutherland, H., Bickmore, W. Chromatin and nuclear re-organisation during differentiation and development.
    Differentiation 74:449-478, 2007
    PubMed Abstract

  4. Lirussi, F.; Jonard, L.; Gaston, V.; Sanlaville, D.; Kooy, R.F.; Winnepenninckx, B.; Maher, E.R.; Fitzpatrick, D.R.; Gicquel, C.; Portnoi, M.F.; Couderc, R.; Vazquez, M.P. and Bahuau, M. Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency. Am J Med Genet A 143(23):2796-2803, 2007
    PubMed Abstract

  5. Little, M.H.; Brennan, J.; Georgas, K.; Davies, J.A.; Davidson, D.R.; Baldock, R.A.; Beverdam, A.; Bertram, J.F.; Capel, B.; Chiu, H.S.; Clements, D.; Cullen-McEwen, L.; Fleming, J.; Gilbert, T.; Herzlinger, D.; Houghton, D.; Kaufman, M.H.; Kleymenova, E.; Koopman, P.A.; Lewis, A.G.; McMahon, A.P.; Mendelsohn, C.L.; Mitchell, E.K.; Rumballe, B.A.; Sweeney, D.E.; Valerius, M.T.; Yamada, G.; Yang, Y. and Yu, J. A high-resolution anatomical ontology of the developing murine genitourinary tract.
    Gene Expr.Patterns.
    7:680-699, 2007 PubMed Abstract

  6. Longman, D.; Plasterk, R.H.A.; Johnstone, I.L. and Caceres, J.F. Mechanistic insights and identification of two novel factors in the C. elegans NMD pathway. Genes & Development 21(9):1075-1085, 2007 PubMed Abstract

  7. Luxardi, G.; Galli, A.; Forlani, S.; Lawson, K.; Maina, F., and Dono, R. Glypicans are differentially expressed during patterning and neurogenesis of early mouse brain. Biochem Biophys Res Commun 352:55-60, 2007
    PubMed Abstract


  8. Manuel, M.; Georgala, P.A.; Carr, C.B.; Chanas, S.; Kleinjan, D.A.; Martynoga, B.; Mason, J.O.; Molinek, M.; Pinson, J.; Pratt, T.; Quinn, J.C.; Simpson, T.I.; Tyas, D.A.; van Heyningen, V.; West, J.D. and Price, D.J. Controlled overexpression of Pax6 in vivo negatively auto-regulates the Pax6 locus, causing cell-autonomous defects of late cortical progenitor proliferation with little effect on cortical arealization.
    Development 134:545-555, 2007
    PubMed Abstract


  9. Marshall, H.M.; Ronen, K.; Berry, C.; Llano, M.; Sutherland, H.; Saenz, D.; Bickmore, W.; Poeschia, E. and Bushman, F.D. Role of PSIP1/LEDGF/p75 in Lentiviral Infectivity and Integration Targeting.
    PLoS ONE
    2(12):e1340. doi:10.137/journakl.pone.0001340, 2007 PubMed Abstract

  10. Matarazzo MR, Boyle S, D'Esposito M, Bickmore WA Chromosome territory reorganization in a human disease with altered DNA methylation. Proc Natl Acad Sci 104:16546-16551, 2007
    PubMed Abstract


  11. McGurk L, Morrison H, Keegan LP, Sharpe J, O'Connell MA Three-Dimensional Imaging of Drosophila melanogaster.
    PLoS ONE
    2:e834, 2007
    PubMed Abstract


  12. Miller KA, Barrow J, Collinson JM, Davidson S, Lear M, Hill RE, MacKenzie A A highly conserved Wnt-dependent TCF4 binding site within the proximal enhancer of the anti-myogenic Msx1 gene supports expression within Pax3-expressing limb bud muscle precursor cells.
    Dev Biol
    311(2):665-78, 2007
    PubMed Abstract


  13. Morey, C.; Da Silva, N.R.; Perry, P. and Bickmore, W.A. Nuclear reorganization and chromatin decondensation are conserved, but distinct, mechanisms linked to Hox gene activation. Development 134:909-919, 2007
    PubMed Abstract


  14. The Mouse Phenotype Database Integration Consortium. (Davidson, D.) Integration of mouse phenome data resources.
    Mamm Genome
    18:157-163, 2007
    Pubmed Abstract

  15. Nan, X.; Hou, J.; MacLean, A.; Nasir, J.; Lafuente, M.J.; Shu, X.; Kriaucionis, S., and Bird, A. Interaction between chromatin proteins MECP2 and ATRX is disru ted by mutations that cause inherited mental retardation. Proc.Natl.Acad.Sci.U.S.A 104:2709-2714, 2007
    PubMed Abstract

  16. Owen, R.M.; Baker, R.D.; Bader, S.; Dunlop, M.G., and Nicholl, I.D. The identification of a novel alternatively spliced form of the MBD4 DNA glycosylase.
    Oncol Rep
    17(1): 111-116, 2007
    PubMed Abstract


  17. Pasutto, F.; Sticht, H.; Hammersen, G.; Gillessen-Kaesbach, G.; Fitzpatrick, D.R.; Nurnberg, G.; Brasch, F.; Schirmer-Zimmermann, H.; Tolmie, J.L.; Chitayat, D.; Houge, G.; Fernandez-Martinez, L.; Keating, S.; Mortier, G.; Hennekam, R.C.; von der, W.A.; Slavotinek, A.; Meinecke, P.; Bitoun, P.; Becker, C.; Nurnberg, P.; Reis, A., and Rauch, A. Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.
    Am.J.Hum.Genet.
    80:550-560, 2007 PubMed Abstract

  18. Prendergast, J.G.; Campbell, H.; Gilbert, N.; Dunlop, M.G.; Bickmore, W.A. and Semple, C.A. Chromatin structure and evolution in the human genome.
    BMC Evol Biol 7:72, 2007
    PubMed Abstract


  19. Reynolds, N.; Collier, B.; Bingham, V.; Gray, N.K. and Cooke, H.J. Translation of the synaptonemal complex component Sycp3 is enhanced in vivo by the germ cell specific regulator Dazl.
    RNA
    13:974-981, 2007
    PubMed Abstract

  20. Rice, G.; Patrick, T.; Parmar, R.; Taylor, C.F.; Aeby, A.; Aicardi, J.; Artuch, R.; Montalto, S.A.; Bacino, C.A.; Barroso, B.; Baxter, P.; Benko, W.S.; Bergmann, C.; Bertini, E.; Biancheri, R.; Blair, E.M.; Blau, N.; Bonthron, D.T.; Briggs, T.; Brueton, L.A.; Brunner, H.G.; Burke, C.J.; Carr, I.M.; Carvalho, D.R.; Chandler, K.E.; Christen, H.J.; Corry, P.C.; Cowan, F.M.; Cox, H.; D'Arrigo, S.; Dean, J.; De Laet, C.; De Praeter, C.; Dery, C.; Ferrie, C.D.; Flintoff, K.; Frints, S.G.M.; Garcia-Cazorla, A.; Gener, B.; Goizet, C.; Goutieres, F.; Green, A.J.; Guet, A.; Hamel, B.C.J.; Hayward, B.E.; Heiberg, A.; Hennekam, R.C.; Husson, M.; Jackson, A.P.; Jayatunga, R.; Jiang, Y.H.; Kant, S.G.; Kao, A.; King, M.D.; Kingston, H.M.; Klepper, J.; van der Knaap, M.S.; Kornberg, A.J.; Kotzot, D.; Kratzer, W.; Lacombe, D.; Lagae, L.; Landrieu, P.G.; Lanzi, G.; Leitch, A.; Lim, M.J.; Livingston, J.H.; Lourenco, C.M.; Lyall, E.G.H.; Lynch, S.A.; Lyons, M.J.; Marom, D.; McClure, J.P.; McWilliam, R.; Melancon, S.B.; Mewasingh, L.D.; Moutard, M.L.; Nischal, K.K.; Ostergaard, J.R.; Prendiville, J.; Rasmussen, M.; Rogers, R.C.; Roland, D.; Rosser, E.M.; Rostasy, K.; Roubertie, A.; Sanchis, A.; Schiffmann, R.; Scholl-Burgi, S.; Seal, S.; Shalev, S.A.; Corcoles, C.S.; Sinha, G.P.; Soler, D.; Spiegel, R.; Stephenson, J.B.P.; Tacke, U.; Tan, T.Y.; Till, M.; Tolmie, J.L.; Tomlin, P.; Vagnarelli, F.; Valente, E.M.; Van Coster, R.N.A.; Van der Aa, N.; Vanderver, A.; Vles, J.S.H.; Voit, T.; Wassmer, E.; Weschke, B.; Whiteford, M.L.; Willemsen, M.A.A.; Zankl, A.; Zuberi, S.M.; Orcesi, S.; Fazzi, E.; Lebon, P., and Crow, Y.J. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. American Journal of Human Genetics 81:713-725, 2007
    PubMed Abstract


  21. Santamaria, D.; Barriere, C.; Cerqueira, A.; Hunt, S.; Tardy, C.; Newton, K.; Caceres, J.F.; Dubus, P.; Malumbres, M. and Barbacid, M. Cdk1 is sufficient to drive the mammalian cell cycle.
    Nature 448:811-815, 2007
    PubMed Abstract


  22. Shu, X.; Black, G.C.; Rice, J.M.; Hart-Holden, N.; Jones, A.; O'Grady, A.; Ramsden, S., and Wright, A.F. RPGR mutation analysis and disease: an update.
    Hum Mutat 28:322-328, 2007
    PubMed Abstract

  23. Spraggon, L.; Dudnakova, T.; Slight, J.; Lustig-Yariv, O.; Cotterell, J.; Hastie, N. and Miles, C. hnRNP-U directly interacts with WT1 and modulates WT1 transcriptional activation.
    Oncogene
    26:1484-1491, 2007
    PubMed Abstract

  24. Stark, L.A.; Reid, K.; Sansom, O.J.; Din, F.V.; Guichard, S.; Mayer, I.; Jodrell, D.I.; Clarke, A.R. and Dunlop, M.G. Aspirin activates the NF-{kappa}B signalling pathway and induces apoptosis in intestinal neoplasia in two in vivo models of human colorectal cancer.
    Carcinogenesis
    28(5):968-76, 2007 PubMed Abstract

  25. Suri, M.; Kelehan, P.; O'neill, D.; Vadeyar, S.; Grant, J.; Ahmed, S.F.; Tolmie, J.; McCann, E.; Lam, W.; Smith, S.; Fitzpatrick, D.; Hastie, N.D., and Reardon, W. WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations. Am.J.Med.Genet.A 143(19): 2312-2320, 2007
    PubMed Abstract


  26. Taylor, K.; McCullough, B.; Clarke, D.J.; Langley, R.J.; Pechenick, T.; Hill, A.; Campopiano, D.J.; Barran, P.E.; Dorin, J.R., and Govan, J.R. Covalent dimer species of beta-defensin Defr1 display potent antimicrobial activity against multidrug-resistant bacterial pathogens. Antimicrob.Agents Chemother. 51:1719-1724, 2007
    PubMed Abstract

  27. Tenesa, A.; Navarro, P.; Hayes, B.J.; Duffy, D.L.; Clarke, G.M.; Goddard, M.E., and Visscher, P.M. Recent human effective population size estimated from linkage disequilibrium.
    Genome Res.
    17:520-526, 2007
    PubMed Abstract

  28. Thoms, H.C.; Dunlop, M.G. and Stark, l.A. CDK4 Inhibitors and Apoptosis: a novel mechanism Requiring Nucleolar Targeting of Re1A.
    Cell Cycle
    6(11):1293-1297, 2007
    Pubmed Abstract

  29. Thoms, H.C.; Dunlop, M.G. and Stark, L.A. p38-Mediated Inactivation of Cyclin D1/Cyclin-Dependent Kinase 4 Stimulates Nucleolar Translocation of RelA and Apoptosis in Colorectal Cancer Cells. Cancer Research 67(4):1660-9, 2007 PubMed Abstract

  30. van Hemert, J. and Baldock, R. Mining Spatial Gene Expression Data for Association Rules. Lecture Notes in Computer Science 4414:66-74, 2007

  31. van Heyningen, V.; Hoovers, J.M.N.; de Kraker, J. and Crolla, J.A. Elevated risk of Wilms tumour in aniridia cases with submicroscopic WT1 deletion.
    J Med Genet
    44:787-790, 2007
    PubMed Abstract

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