Search Results - "Semple, C A"

A bioinformatic screen for novel A–I RNA editing sites reveals recoding editing in BC10 by Clutterbuck, D. R., Leroy, A., O'Connell, M. A., Semple, C. A. M.

“…Motivation: Recent studies have demonstrated widespread adenosine–inosine RNA editing in non-coding sequence. However, the extent of editing in coding…”
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In silico identification of transcripts and SNPs from a region of 4p linked with bipolar affective disorder by Semple, C. A. M., Morris, S. W., Porteous, D. J., Evans, K. L.

“…Contact: c.semple@hgu.mrc.ac.uk Availability: Files containing the accession numbers of all EST clusters and SNPs from this study are available at…”
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Identification of Genes from a Schizophrenia-Linked Translocation Breakpoint Region by Semple, C.A.M., Devon, R.S., Le Hellard, S., Porteous, D.J.

“…The translocation t(1:11)(q42.1,q14.3) has previously been found to be linked with schizophrenia. Genes present at the chromosome 1 breakpoint have been…”
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Physical mapping: integrating computational and molecular genetic data by LE HELLARD, S., SEMPLE, C. A. M., MORRIS, S. W., PORTEOUS, D. J., EVANS, K. L.

“…A crucial step beyond the identification of genetic linkage of a disease to a chromosomal region is the production of a physical map that will allow the…”
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Chromosomal Location and Genomic Structure of the Human Translin-Associated Factor X Gene (TRAX; TSNAX) Revealed by Intergenic Splicing to DISC1, a Gene Disrupted by a Translocation Segregating with Schizophrenia by Millar, J.Kirsty, Christie, Sheila, Semple, Colin A.M., Porteous, David J.

“…Two candidate genes, DISC1 and DISC2 on chromosome 1, are disrupted by a translocation that segregates with major psychiatric illness. Several DISC1…”
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Disruption of two novel genes by a translocation co-segregating with schizophrenia by Millar, J K, Wilson-Annan, J C, Anderson, S, Christie, S, Taylor, M S, Semple, C A, Devon, R S, St Clair, D M, Muir, W J, Blackwood, D H, Porteous, D J

“…A balanced (1;11)(q42.1;q14.3) translocation segregates with schizophrenia and related psychiatric disorders in a large Scottish family (maximum LOD = 6.0). We…”
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BiForce Toolbox: powerful high-throughput computational analysis of gene-gene interactions in genome-wide association studies by Gyenesei, Attila, Moody, Jonathan, Laiho, Asta, Semple, Colin A M, Haley, Chris S, Wei, Wen-Hua

“…Genome-wide association studies (GWAS) have discovered many loci associated with common disease and quantitative traits. However, most GWAS have not studied…”
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Comparing Human Genome Mapping Data by Colin A. M. Semple, Evans, Kathryn L., Morris, Stewart W., Porteous, David J.

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A 6.9-Mb High-Resolution BAC/PAC Contig of Human 4p15.3–p16.1, a Candidate Region for Bipolar Affective Disorder by Evans, Kathryn L., Le Hellard, Stephanie, Morris, Stewart W., Lawson, Diane, Whitton, Claire, Semple, Colin A.M., Fantes, Judith A., Torrance, Helen S., Malloy, M.Pat, Maule, John C., Humphray, Sean J., Ross, Mark T., Bentley, David R., Muir, Walter J., Blackwood, Douglas H.R., Porteous, David J.

“…Bipolar affective disorder (BPAD) is a complex disease with a significant genetic component and a population lifetime risk of 1%. Our previous work identified…”
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Meet the parents: bioinformatics and computational biology by Semple, C A M

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Modeling double strand break susceptibility to interrogate structural variation in cancer by Ballinger, Tracy J, Bouwman, Britta A M, Mirzazadeh, Reza, Garnerone, Silvano, Crosetto, Nicola, Semple, Colin A

“…Structural variants (SVs) are known to play important roles in a variety of cancers, but their origins and functional consequences are still poorly understood…”
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Beta-defensin evolution: selection complexity and clues for residues of functional importance by Semple, C A M, Taylor, K, Eastwood, H, Barran, P E, Dorin, J R

“…We have examined the evolution of the genes at the major human beta-defensin locus and the orthologous loci in a range of other primates and mammals. For the…”
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Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016 by Srivastava, A. K., Wang, Y., Huang, R., Skinner, C., Thompson, T., Pollard, L., Wood, T., Luo, F., Stevenson, R., Polimanti, R., Gelernter, J., Lin, X., Lim, I. Y., Wu, Y., Teh, A. L., Chen, L., Aris, I. M., Soh, S. E., Tint, M. T., MacIsaac, J. L., Yap, F., Kwek, K., Saw, S. M., Kobor, M. S., Meaney, M. J., Godfrey, K. M., Chong, Y. S., Holbrook, J. D., Lee, Y. S., Gluckman, P. D., Karnani, N., Kapoor, A., Lee, D., Chakravarti, A., Maercker, C., Graf, F., Boutros, M., Stamoulis, G., Santoni, F., Makrythanasis, P., Letourneau, A., Guipponi, M., Panousis, N., Garieri, M., Ribaux, P., Falconnet, E., Borel, C., Antonarakis, S. E., Kumar, S., Curran, J., Blangero, J., Chatterjee, S., Akiyama, J., Auer, D., Berrios, C., Pennacchio, L., Donti, T. R., Cappuccio, G., Miller, M., Atwal, P., Kennedy, A., Cardon, A., Bacino, C., Emrick, L., Hertecant, J., Baumer, F., Porter, B., Bainbridge, M., Bonnen, P., Graham, B., Sutton, R., Sun, Q., Elsea, S., Hu, Z., Wang, P., Zhu, Y., Zhao, J., Xiong, M., Bennett, David A., Hidalgo-Miranda, A., Romero-Cordoba, S., Rodriguez-Cuevas, S., Rebollar-Vega, R., Tagliabue, E., Iorio, M., D’Ippolito, E., Baroni, S., Kaczkowski, B., Tanaka, Y., Kawaji, H., Sandelin, A., Andersson, R., Itoh, M., Lassmann, T., Hayashizaki, Y., Carninci, P., Forrest, A. R. R., Semple, C. A., Rosenthal, E. A., Shirts, B.

“…O1 The metabolomics approach to autism: identification of biomarkers for early detection of autism spectrum disorder A. K. Srivastava, Y. Wang, R. Huang, C…”
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Dazl binds in vivo to specific transcripts and can regulate the pre-meiotic translation of Mvh in germ cells by Reynolds, Nicola, Collier, Brian, Maratou, Klio, Bingham, Victoria, Speed, Robert M., Taggart, Mary, Semple, Colin A., Gray, Nicola K., Cooke, Howard J.

“…Gametogenesis is a complex process subject to strict controls at both levels of transcription and translation. Members of a family of conserved RNA-binding…”
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Two novel proteins recruited by synaptonemal complex protein 1 (SYCP1) are at the centre of meiosis by Costa, Yael, Speed, Robert, Öllinger, Rupert, Alsheimer, Manfred, Semple, Colin A, Gautier, Philippe, Maratou, Klio, Novak, Ivana, Höög, Christer, Benavente, Ricardo, Cooke, Howard J

“…Completion of meiosis in mammals depends on the formation of the synaptonemal complex, a tripartite structure that physically links homologous chromosomes…”
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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 by Devon, R S, Anderson, S, Teague, P W, Burgess, P, Kipari, T M, Semple, C A, Millar, J K, Muir, W J, Murray, V, Pelosi, A J, Blackwood, D H, Porteous, D J

“…We have undertaken a search for polymorphic sequence variation within Disrupted in Schizophrenia 1 and Disrupted in Schizophrenia 2 (DISC1 and DISC2), which…”
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Transcriptional dynamics reveal critical roles for non-coding RNAs in the immediate-early response by Aitken, Stuart, Magi, Shigeyuki, Alhendi, Ahmad M N, Itoh, Masayoshi, Kawaji, Hideya, Lassmann, Timo, Daub, Carsten O, Arner, Erik, Carninci, Piero, Forrest, Alistair R R, Hayashizaki, Yoshihide, Khachigian, Levon M, Okada-Hatakeyama, Mariko, Semple, Colin A

“…The immediate-early response mediates cell fate in response to a variety of extracellular stimuli and is dysregulated in many cancers. However, the specificity…”
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Conserved temporal ordering of promoter activation implicates common mechanisms governing the immediate early response across cell types and stimuli by Vacca, Annalaura, Itoh, Masayoshi, Kawaji, Hideya, Arner, Erik, Lassmann, Timo, Daub, Carsten O., Carninci, Piero, Forrest, Alistair R. R., Hayashizaki, Yoshihide, Aitken, Stuart, Semple, Colin A.

“…The promoters of immediate early genes (IEGs) are rapidly activated in response to an external stimulus. These genes, also known as primary response genes,…”
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The changing of the guard: Molecular diversity and rapid evolution of beta-defensins by Semple, Colin A, Gautier, Phillipe, Taylor, Karen, Dorin, Julia R

“…Defensins are small cationic peptides involved in innate immunity and are components of the first line of defence against invading pathogens. beta-defensins…”
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Physical mapping: integrating computational and molecular genetic data by HELLARD, S., SEMPLE, C. A. M., MORRIS, S. W., PORTEOUS, D. J., EVANS, K. L.

“…A crucial step beyond the identification of genetic linkage of a disease to a chromosomal region is the production of a physical map that will allow the…”
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