genes

Summary

Summary: Specific sequences of nucleotides along a molecule of DNA (or, in the case of some viruses, RNA) which represent functional units of HEREDITY. Most eukaryotic genes contain a set of coding regions (EXONS) that are spliced together in the transcript, after removal of intervening sequence (INTRONS) and are therefore labeled split genes.

Top Publications

  1. ncbi Initial sequencing and analysis of the human genome
    E S Lander
    Whitehead Institute for Biomedical Research, Center for Genome Research, Cambridge, Massachusetts 02142, USA
    Nature 409:860-921. 2001
  2. ncbi Determination of stable housekeeping genes, differentially regulated target genes and sample integrity: BestKeeper--Excel-based tool using pair-wise correlations
    Michael W Pfaffl
    Physiology, FML Weihenstephan, Centre of Life and Food Science, Technical University of Munich, Germany
    Biotechnol Lett 26:509-15. 2004
  3. pmc A census of human cancer genes
    P Andrew Futreal
    Cancer Genome Project, Human Genome Analysis Group and Pfam Group, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton Cambs, CB10 1SA, UK
    Nat Rev Cancer 4:177-83. 2004
  4. pmc The GOA database in 2009--an integrated Gene Ontology Annotation resource
    Daniel Barrell
    Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK
    Nucleic Acids Res 37:D396-403. 2009
  5. pmc Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists
    Da Wei Huang
    Laboratory of Immunopathogenesis and Bioinformatics, Clinical Services Program, SAIC Frederick, Inc, National Cancer Institute at Frederick, Frederick, MD 21702, USA
    Nucleic Acids Res 37:1-13. 2009
  6. pmc Origins, evolution, and phenotypic impact of new genes
    Henrik Kaessmann
    Center for Integrative Genomics, University of Lausanne, CH 1015 Lausanne, Switzerland
    Genome Res 20:1313-26. 2010
  7. pmc The human genome browser at UCSC
    W James Kent
    Department of Molecular, Cellular, and Developmental Biology, University of California, Santa Cruz, CA 95064, USA
    Genome Res 12:996-1006. 2002
  8. pmc Phenotypic profiling of the human genome by time-lapse microscopy reveals cell division genes
    Beate Neumann
    MitoCheck Project Group, European Molecular Biology Laboratory EMBL, Meyerhofstrasse 1, D 69117 Heidelberg, Germany
    Nature 464:721-7. 2010
  9. pmc Age-dependent DNA methylation of genes that are suppressed in stem cells is a hallmark of cancer
    Andrew E Teschendorff
    University College London, London WC1E 6BT, UK
    Genome Res 20:440-6. 2010
  10. pmc The KEGG resource for deciphering the genome
    Minoru Kanehisa
    Bioinformatics Center, Institute for Chemical Research, Kyoto University, Uji, Kyoto 611 0011, Japan
    Nucleic Acids Res 32:D277-80. 2004

Detail Information

Publications236 found, 100 shown here

  1. ncbi Initial sequencing and analysis of the human genome
    E S Lander
    Whitehead Institute for Biomedical Research, Center for Genome Research, Cambridge, Massachusetts 02142, USA
    Nature 409:860-921. 2001
    ..We also present an initial analysis of the data, describing some of the insights that can be gleaned from the sequence...
  2. ncbi Determination of stable housekeeping genes, differentially regulated target genes and sample integrity: BestKeeper--Excel-based tool using pair-wise correlations
    Michael W Pfaffl
    Physiology, FML Weihenstephan, Centre of Life and Food Science, Technical University of Munich, Germany
    Biotechnol Lett 26:509-15. 2004
    ..prerequisite for internal standardisation of target gene expression data and many so called housekeeping genes with assumed stable expression can exhibit either up- or down-regulation under some experimental conditions...
  3. pmc A census of human cancer genes
    P Andrew Futreal
    Cancer Genome Project, Human Genome Analysis Group and Pfam Group, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton Cambs, CB10 1SA, UK
    Nat Rev Cancer 4:177-83. 2004
  4. pmc The GOA database in 2009--an integrated Gene Ontology Annotation resource
    Daniel Barrell
    Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK
    Nucleic Acids Res 37:D396-403. 2009
    ..ebi.ac.uk/QuickGO), which allows users to precisely tailor their annotation set...
  5. pmc Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists
    Da Wei Huang
    Laboratory of Immunopathogenesis and Bioinformatics, Clinical Services Program, SAIC Frederick, Inc, National Cancer Institute at Frederick, Frederick, MD 21702, USA
    Nucleic Acids Res 37:1-13. 2009
    ....
  6. pmc Origins, evolution, and phenotypic impact of new genes
    Henrik Kaessmann
    Center for Integrative Genomics, University of Lausanne, CH 1015 Lausanne, Switzerland
    Genome Res 20:1313-26. 2010
    Ever since the pre-molecular era, the birth of new genes with novel functions has been considered to be a major contributor to adaptive evolutionary innovation...
  7. pmc The human genome browser at UCSC
    W James Kent
    Department of Molecular, Cellular, and Developmental Biology, University of California, Santa Cruz, CA 95064, USA
    Genome Res 12:996-1006. 2002
    ..The conceptual and technical framework of the browser, its underlying MYSQL database, and overall use are described. The web site currently serves over 50,000 pages per day to over 3000 different users...
  8. pmc Phenotypic profiling of the human genome by time-lapse microscopy reveals cell division genes
    Beate Neumann
    MitoCheck Project Group, European Molecular Biology Laboratory EMBL, Meyerhofstrasse 1, D 69117 Heidelberg, Germany
    Nature 464:721-7. 2010
    Despite our rapidly growing knowledge about the human genome, we do not know all of the genes required for some of the most basic functions of life...
  9. pmc Age-dependent DNA methylation of genes that are suppressed in stem cells is a hallmark of cancer
    Andrew E Teschendorff
    University College London, London WC1E 6BT, UK
    Genome Res 20:440-6. 2010
    Polycomb group proteins (PCGs) are involved in repression of genes that are required for stem cell differentiation...
  10. pmc The KEGG resource for deciphering the genome
    Minoru Kanehisa
    Bioinformatics Center, Institute for Chemical Research, Kyoto University, Uji, Kyoto 611 0011, Japan
    Nucleic Acids Res 32:D277-80. 2004
    ..been developing a knowledge-based approach for network prediction, which is to predict, given a complete set of genes in the genome, the protein interaction networks that are responsible for various cellular processes...
  11. pmc Associating genes and protein complexes with disease via network propagation
    Oron Vanunu
    School of Computer Science, Tel Aviv University, Tel Aviv, Israel
    PLoS Comput Biol 6:e1000641. 2010
    A fundamental challenge in human health is the identification of disease-causing genes. Recently, several studies have tackled this challenge via a network-based approach, motivated by the observation that genes causing the same or ..
  12. pmc WebGestalt: an integrated system for exploring gene sets in various biological contexts
    Bing Zhang
    Graduate School in Genome Science and Technology, University of Tennessee Oak Ridge National Laboratory, Oak Ridge, TN 37831, USA
    Nucleic Acids Res 33:W741-8. 2005
    High-throughput technologies have led to the rapid generation of large-scale datasets about genes and gene products. These technologies have also shifted our research focus from 'single genes' to 'gene sets'...
  13. pmc FragGeneScan: predicting genes in short and error-prone reads
    Mina Rho
    School of Informatics and Computing, Indiana University, Bloomington, IN 47408, USA
    Nucleic Acids Res 38:e191. 2010
    ..e. the metagenome). Identification of genes directly from short reads has become an important yet challenging problem in annotating metagenomes, since the ..
  14. pmc GENCODE: producing a reference annotation for ENCODE
    Jennifer Harrow
    Wellcome Trust Sanger Institute, Wellcome Trust Campus, Hinxton, Cambridge CB10 1SA, UK
    Genome Biol 7:S4.1-9. 2006
    The GENCODE consortium was formed to identify and map all protein-coding genes within the ENCODE regions...
  15. pmc Current tools for the identification of miRNA genes and their targets
    N D Mendes
    Equipe BAOBAB, Laboratoire de Biométrie et Biologie Évolutive UMR 5558, CNRS, Univ Lyon 1, 43 Bd du 11 Nov 1918, 69622, Villeurbanne Cedex, France
    Nucleic Acids Res 37:2419-33. 2009
    ..The expansion of our catalogue of miRNA genes and the identification of the genes they regulate owe much to the development of sophisticated computational tools ..
  16. doi The evolutionary origin of orphan genes
    Diethard Tautz
    Max Planck Institut für Evolutionsbiologie, August Thienemannstrasse 2, 24306 Plön, Germany
    Nat Rev Genet 12:692-702. 2011
    ..However, every evolutionary lineage harbours orphan genes that lack homologues in other lineages and whose evolutionary origin is only poorly understood...
  17. pmc Forkhead box M1 regulates the transcriptional network of genes essential for mitotic progression and genes encoding the SCF (Skp2-Cks1) ubiquitin ligase
    I Ching Wang
    Department of Biochemistry and Molecular Genetics, University of Illinois at Chicago, College of Medicine, 60607 7170, USA
    Mol Cell Biol 25:10875-94. 2005
    ..and expression assays, we show that FoxM1 is essential for transcription of the mitotic regulatory genes Cdc25B, Aurora B kinase, survivin, centromere protein A (CENPA), and CENPB...
  18. pmc GeneCodis: interpreting gene lists through enrichment analysis and integration of diverse biological information
    Ruben Nogales-Cadenas
    Computer Architecture Department, Complutense University of Madrid, Madrid, Spain
    Nucleic Acids Res 37:W317-22. 2009
    ..In addition, GeneCodis can now be accessed through a public SOAP web services interface, enabling users to perform analysis from their own scripts and workflows. The application is freely available at http://genecodis.dacya.ucm.es...
  19. pmc McKusick's Online Mendelian Inheritance in Man (OMIM)
    Joanna Amberger
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Nucleic Acids Res 37:D793-6. 2009
    McKusick's Online Mendelian Inheritance in Man (OMIM; http://www.ncbi.nlm.nih.gov/omim), a knowledgebase of human genes and phenotypes, was originally published as a book, Mendelian Inheritance in Man, in 1966...
  20. pmc De novo origin of human protein-coding genes
    Dong Dong Wu
    State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China
    PLoS Genet 7:e1002379. 2011
    ..Here we identify 60 new protein-coding genes that originated de novo on the human lineage since divergence from the chimpanzee...
  21. ncbi Initial sequencing and comparative analysis of the mouse genome
    Robert H Waterston
    Genome Sequencing Center, Washington University School of Medicine, Campus Box 8501, 4444 Forest Park Avenue, St Louis, Missouri 63108, USA
    Nature 420:520-62. 2002
    ..less than half of the genomes; the proportions of the genomes under selection; the number of protein-coding genes; the expansion of gene families related to reproduction and immunity; the evolution of proteins; and the ..
  22. doi Collisions between replication and transcription complexes cause common fragile site instability at the longest human genes
    Anne Helmrich
    Department of Functional Genomics and Cancer, Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS UMR 7104, INSERM U 964, Universite de Strasbourg, BP 10142 67404 Illkirch Cedex, France
    Mol Cell 44:966-77. 2011
    We show that the time required to transcribe human genes larger than 800 kb spans more than one complete cell cycle, while their transcription speed equals that of smaller genes...
  23. pmc Mammalian microRNAs: experimental evaluation of novel and previously annotated genes
    H Rosaria Chiang
    Whitehead Institute for Biomedical Research, Cambridge, Massachusetts 02142, USA
    Genes Dev 24:992-1009. 2010
    ..Analysis of these sequences confirmed 398 annotated miRNA genes and identified 108 novel miRNA genes...
  24. pmc Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
    Ada Hamosh
    Nucleic Acids Res 33:D514-7. 2005
    Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics...
  25. pmc Recent de novo origin of human protein-coding genes
    David G Knowles
    Smurfit Institute of Genetics, University of Dublin, Trinity College, Ireland
    Genome Res 19:1752-9. 2009
    The origin of new genes is extremely important to evolutionary innovation. Most new genes arise from existing genes through duplication or recombination...
  26. ncbi The sequence of the human genome
    J C Venter
    Celera Genomics, 45 West Gude Drive, Rockville, MD 20850, USA
    Science 291:1304-51. 2001
    ..for which there was strong corroborating evidence and an additional approximately 12,000 computationally derived genes with mouse matches or other weak supporting evidence...
  27. ncbi Leber congenital amaurosis: genes, proteins and disease mechanisms
    Anneke I den Hollander
    Department of Human Genetics and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Prog Retin Eye Res 27:391-419. 2008
    ..Linkage analysis, homozygosity mapping and candidate gene analysis facilitated the identification of 14 genes mutated in patients with LCA and juvenile retinal degeneration, which together explain approximately 70% of the ..
  28. pmc Mutations of multiple genes cause deregulation of NF-kappaB in diffuse large B-cell lymphoma
    Mara Compagno
    Institute for Cancer Genetics and the Herbert Irving Comprehensive Cancer Center, Columbia University, New York, New York 10032, USA
    Nature 459:717-21. 2009
    ..Here we show that >50% of ABC-DLBCL and a smaller fraction of GCB-DLBCL carry somatic mutations in multiple genes, including negative (TNFAIP3, also called A20) and positive (CARD11, TRAF2, TRAF5, MAP3K7 (TAK1) and TNFRSF11A (..
  29. pmc The universal distribution of evolutionary rates of genes and distinct characteristics of eukaryotic genes of different apparent ages
    Yuri I Wolf
    National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20894, USA
    Proc Natl Acad Sci U S A 106:7273-80. 2009
    The evolutionary rates of protein-coding genes in an organism span, approximately, 3 orders of magnitude and show a universal, approximately log-normal distribution in a broad variety of species from prokaryotes to mammals...
  30. doi Molecular mechanisms of epistasis within and between genes
    Ben Lehner
    European Molecular Biology Laboratory Centre for Genomic Regulation EMBL CRG Systems Biology, the Catalan Institute of Research and Advanced Studies ICREA, Centre for Genomic Regulation and the Pompeu Fabra University UPF, C Dr Aiguader 88, Barcelona 08003, Spain
    Trends Genet 27:323-31. 2011
    ..A more complete understanding of epistasis will be vital for making accurate predictions about the phenotypes of individuals...
  31. pmc Gene finding in novel genomes
    Ian Korf
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK
    BMC Bioinformatics 5:59. 2004
    ..Computational gene prediction continues to be an important problem, especially for genomes with little experimental data...
  32. doi More than just orphans: are taxonomically-restricted genes important in evolution?
    Konstantin Khalturin
    Zoological Institute, Christian Albrechts University Kiel, Olshausenstrasse 40, 24098 Kiel, Germany
    Trends Genet 25:404-13. 2009
    Comparative genome analyses indicate that every taxonomic group so far studied contains 10-20% of genes that lack recognizable homologs in other species...
  33. ncbi Endogenous retroviral LTRs as promoters for human genes: a critical assessment
    Carla J Cohen
    Terry Fox Laboratory, British Columbia Cancer Agency, 675 West 10th Avenue, Vancouver, BC, Canada V5Z1L3
    Gene 448:105-14. 2009
    ..TEs) in gene regulation and, indeed, laboratory investigations have confirmed many specific examples of mammalian genes regulated by promoters donated by endogenous retroviruses (ERVs) or other TEs...
  34. ncbi Two genes encode distinct glutamate decarboxylases
    M G Erlander
    Neuroscience Program, University of California Los Angeles 90024
    Neuron 7:91-100. 1991
    ..These forms, GAD65 and GAD67, derive from two genes. The distinctive properties of the two GADs provide a substrate for understanding not only the multiple roles of ..
  35. pmc Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function
    Soumya Raychaudhuri
    Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America
    PLoS Genet 6:e1001097. 2010
    ..One hypothesis is that CNV events cause disease by affecting genes with specific brain functions...
  36. doi A guide to web tools to prioritize candidate genes
    Leon Charles Tranchevent
    Katholieke Universiteit Leuven, Belgium
    Brief Bioinform 12:22-32. 2011
    Finding the most promising genes among large lists of candidate genes has been defined as the gene prioritization problem...
  37. pmc Transposases are the most abundant, most ubiquitous genes in nature
    Ramy K Aziz
    Computation Institute, University of Chicago, Chicago, IL 60637, USA
    Nucleic Acids Res 38:4207-17. 2010
    b>Genes, like organisms, struggle for existence, and the most successful genes persist and widely disseminate in nature...
  38. pmc The power of protein interaction networks for associating genes with diseases
    Saket Navlakha
    Center for Bioinformatics and Computational Biology, Institute for Advanced Computer Studies and Department of Computer Science, University of Maryland College Park, College Park, MD 20742, USA
    Bioinformatics 26:1057-63. 2010
    Understanding the association between genetic diseases and their causal genes is an important problem concerning human health...
  39. pmc Genes and social behavior
    Gene E Robinson
    Department of Entomology, University of Illinois at Urbana Champaign, 505 South Goodwin Avenue, Urbana, IL 61801, USA
    Science 322:896-900. 2008
    What genes and regulatory sequences contribute to the organization and functioning of neural circuits and molecular pathways in the brain that support social behavior? How does social experience interact with information in the genome to ..
  40. pmc Distinctive chromatin in human sperm packages genes for embryo development
    Saher Sue Hammoud
    Howard Hughes Medical Institute, Department of Oncological Sciences, University of Utah School of Medicine, Salt Lake City, Utah 84112, USA
    Nature 460:473-8. 2009
    ..Furthermore, developmental promoters are generally DNA hypomethylated in sperm, but acquire methylation during differentiation. Taken together, epigenetic marking in sperm is extensive, and correlated with developmental regulators...
  41. pmc Circadian genes, rhythms and the biology of mood disorders
    Colleen A McClung
    Department of Psychiatry and Center for Basic Neuroscience, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390 9070, USA
    Pharmacol Ther 114:222-32. 2007
    ..Recent genetic, molecular and behavioral studies implicate individual genes that make up the clock in mood regulation...
  42. ncbi The semaphorin genes encode a family of transmembrane and secreted growth cone guidance molecules
    A L Kolodkin
    Howard Hughes Medical Institute, Department of Molecular and Cell Biology, University of California, Berkeley 94720
    Cell 75:1389-99. 1993
    ..We report here on the cloning and characterization of two sema genes in Drosophila, one in human, and the identification of two related viral sequences, all of which encode proteins ..
  43. ncbi Human DNA repair genes
    R D Wood
    Imperial Cancer Research Fund, Clare Hall Laboratories, Blanche Lane, South Mimms, Herts EN6 3LD, UK
    Science 291:1284-9. 2001
    ..Toxic and mutagenic consequences are minimized by distinct pathways of repair, and 130 known human DNA repair genes are described here...
  44. pmc The Gene Ontology (GO) database and informatics resource
    M A Harris
    GO EBI, Hinxton, UK
    Nucleic Acids Res 32:D258-61. 2004
    ..several domains of molecular and cellular biology and are freely available for community use in the annotation of genes, gene products and sequences...
  45. ncbi The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes
    Helen Skaletsky
    Howard Hughes Medical Institute, Whitehead Institute, and Department of Biology, Massachusetts Institute of Technology, 9 Cambridge Center, Cambridge, Massachusetts 02142, USA
    Nature 423:825-37. 2003
    ..These classes contain all 156 known transcription units, which include 78 protein-coding genes that collectively encode 27 distinct proteins. The X-transposed sequences exhibit 99% identity to the X chromosome...
  46. pmc A family of potassium channel genes related to eag in Drosophila and mammals
    J W Warmke
    Laboratory of Genetics, University of Wisconsin, Madison 53706
    Proc Natl Acad Sci U S A 91:3438-42. 1994
    We have identified a conserved family of genes related to Drosophila eag, which encodes a distinct type of voltage-activated K+ channel...
  47. pmc Comparative Toxicogenomics Database: a knowledgebase and discovery tool for chemical-gene-disease networks
    Allan Peter Davis
    Department of Bioinformatics, The Mount Desert Island Biological Laboratory, Salisbury Cove, ME 04672, USA
    Nucleic Acids Res 37:D786-92. 2009
    ..Over 116,000 interactions between 3900 chemicals and 13,300 genes have been curated from 270 species, and 5900 gene-disease and 2500 chemical-disease direct relationships have been ..
  48. pmc Network-based global inference of human disease genes
    Xuebing Wu
    MOE Key Laboratory of Bioinformatics and Bioinformatics Division, TNLIST Department of Automation, Tsinghua University, Beijing, China
    Mol Syst Biol 4:189. 2008
    ..On the basis of the assumption that phenotypically similar diseases are caused by functionally related genes, we propose a computational framework that integrates human protein-protein interactions, disease phenotype ..
  49. pmc Overview of BioCreative II gene normalization
    Alexander A Morgan
    Biomedical Informatics, Stanford University, Stanford, CA, 94305, USA
    Genome Biol 9:S3. 2008
    The goal of the gene normalization task is to link genes or gene products mentioned in the literature to biological databases. This is a key step in an accurate search of the biological literature...
  50. pmc Overview of BioCreative II gene mention recognition
    Larry Smith
    National Center for Biotechnology Information, Bethesda, Maryland, USA
    Genome Biol 9:S2. 2008
    ..We also demonstrate that, by combining the results from all submissions, an F score of 0.9066 is feasible, and furthermore that the best result makes use of the lowest scoring submissions...
  51. pmc Normalization of oligonucleotide arrays based on the least-variant set of genes
    Stefano Calza
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden
    BMC Bioinformatics 9:140. 2008
    ..spike-in experiment all existing normalization methods fail because of an imbalance between up- and down-regulated genes. This means it is still important to develop a normalization method that is robust against violation of the ..
  52. pmc The effect of sequencing errors on metagenomic gene prediction
    Katharina J Hoff
    Department of Bioinformatics, Institute of Microbiology and Genetics, Georg August University Gottingen, Gottingen, Germany
    BMC Genomics 10:520. 2009
    ..Their gene prediction accuracy was mostly measured on error free DNA fragments...
  53. pmc GeneTUKit: a software for document-level gene normalization
    Minlie Huang
    Department of Computer Science and Technology, Tsinghua University, Beijing, China
    Bioinformatics 27:1032-3. 2011
    ..Manual annotation for this task is cost expensive, time consuming and labor intensive. Therefore, providing assistive tools to facilitate the task is of high value...
  54. ncbi Genomic footprints of a cryptic plastid endosymbiosis in diatoms
    Ahmed Moustafa
    Interdisciplinary Program in Genetics, University of Iowa, Iowa City, IA 52242, USA
    Science 324:1724-6. 2009
    ..However, recent analyses have turned up a handful of nuclear genes in chromalveolates that are of green algal derivation...
  55. pmc Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia
    Christopher T Johansen
    Department of Biochemistry, University of Western Ontario, London, Ontario, Canada
    Nat Genet 42:684-7. 2010
    ..Here we show an accumulation of rare variants, or a mutation skew, in GWAS-identified genes in individuals with hypertriglyceridemia (HTG)...
  56. ncbi Ultraconserved elements in the human genome
    Gill Bejerano
    Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA 95064, USA
    Science 304:1321-5. 2004
    ..These ultraconserved elements of the human genome are most often located either overlapping exons in genes involved in RNA processing or in introns or nearby genes involved in the regulation of transcription and ..
  57. ncbi The genetics of addictions: uncovering the genes
    David Goldman
    Laboratory of Neurogenetics, National Institute on Alcohol Abuse and Alcoholism, Rockville, Maryland 20852, USA
    Nat Rev Genet 6:521-32. 2005
    ..heritable, which is paradoxical because these disorders require use; a choice that is itself modulated by both genes and environment...
  58. pmc Coexpression analysis of human genes across many microarray data sets
    Homin K Lee
    Columbia Genome Center, Columbia University, New York, New York 10032, USA
    Genome Res 14:1085-94. 2004
    ..We sought pairs of genes that were reliably coexpressed (based on the correlation of their expression profiles) in multiple data sets, ..
  59. ncbi Genome duplication in the teleost fish Tetraodon nigroviridis reveals the early vertebrate proto-karyotype
    Olivier Jaillon
    UMR 8030 Genoscope, CNRS and Université d Evry, 2 rue Gaston Cremieux, 91057 Evry Cedex, France
    Nature 431:946-57. 2004
    ..Genome analysis provides a greatly improved fish gene catalogue, including identifying key genes previously thought to be absent in fish...
  60. doi Association of genetic risk variants with expression of proximal genes identifies novel susceptibility genes for cardiovascular disease
    Lasse Folkersen
    Atherosclerosis Research Unit, Experimental Cardiovascular Research Unit, Center for Molecular Medicine, Department of Medicine, Karolinska Institutet, Stockholm, Sweden
    Circ Cardiovasc Genet 3:365-73. 2010
    ..b>Genes in close proximity to these risk-SNPs are often thought to be pathogenetically important based on their location ..
  61. ncbi Microsatellites within genes: structure, function, and evolution
    You Chun Li
    Institute of Evolution, University of Haifa, Haifa, Israel
    Mol Biol Evol 21:991-1007. 2004
    ..more microsatellites, or simple sequence repeats (SSRs) have been found and characterized within protein-coding genes and their untranslated regions (UTRs). These data provide useful information to study possible SSR functions...
  62. ncbi Obese and diabetes: two mutant genes causing diabetes-obesity syndromes in mice
    D L Coleman
    Diabetologia 14:141-8. 1978
  63. ncbi Inter-species normalization of gene mentions with GNAT
    Jörg Hakenberg
    Department of Computer Science and Engineering, Arizona State University, Tempe, AZ 85287, USA
    Bioinformatics 24:i126-132. 2008
    ..Normalization helps to link objects of potential interest, such as genes, to detailed information not contained in a publication; it is also key for integrating different knowledge ..
  64. doi Selection of reference genes for gene expression studies in rat oligodendrocytes using quantitative real time PCR
    Katherine Nelissen
    Laboratory of Cell Physiology, Biomedical Research Institute, Hasselt University and Transnational University Limburg, Agoralaan Gebouw C, B 3590 Diepenbeek, Belgium
    J Neurosci Methods 187:78-83. 2010
    ..Normalization with multiple reference genes is becoming the standard, although the most suitable reference genes depend on the applied treatment as well as ..
  65. pmc Genes affecting the regulation of SUC2 gene expression by glucose repression in Saccharomyces cerevisiae
    L Neigeborn
    Genetics 108:845-58. 1984
    ..These findings suggest roles for the SNF1 through SNF6 and SSN6 genes in the regulation of SUC2 gene expression by glucose repression.
  66. pmc Linking genes to literature: text mining, information extraction, and retrieval applications for biology
    Martin Krallinger
    Structural Biology and Biocomputing Programme, Spanish Nacional Cancer Research Centre CNIO, Madrid, Spain
    Genome Biol 9:S8. 2008
    ..Additional descriptions of some of the systems discussed here are available on the internet http://zope.bioinfo.cnio.es/bionlp_tools/...
  67. pmc PosMed (Positional Medline): prioritizing genes with an artificial neural network comprising medical documents to accelerate positional cloning
    Yuko Yoshida
    Bioinformatics and Systems Engineering Division, RIKEN 1 7 22 Suehiro cho, Tsurumi ku, Yokohama, Kanagawa 230 0045, Japan
    Nucleic Acids Res 37:W147-52. 2009
    PosMed (http://omicspace.riken.jp/) prioritizes candidate genes for positional cloning by employing our original database search engine GRASE, which uses an inferential process similar to an artificial neural network comprising ..
  68. pmc Network properties of human disease genes with pleiotropic effects
    Sreenivas Chavali
    The Unit for Clinical Systems Biology, University of Gothenburg, Medicinaregatan 5A, Gothenburg SE405 30, Sweden
    BMC Syst Biol 4:78. 2010
    ..Here, we hypothesized that the ability of human disease genes to cause pleiotropic effects would be associated with their network properties.
  69. pmc Pol II and its associated epigenetic marks are present at Pol III-transcribed noncoding RNA genes
    Artem Barski
    Laboratory of Molecular Immunology, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA
    Nat Struct Mol Biol 17:629-34. 2010
    ..Despite detailed understanding of protein-coding gene expression, the transcription of noncoding RNA genes by RNA polymerase III (Pol III) is less well characterized...
  70. doi Cholesterol-related genes in Alzheimer's disease
    M Axel Wollmer
    Psychiatric University Clinics, University of Basel, 4025 Basel, Switzerland
    Biochim Biophys Acta 1801:762-73. 2010
    ..Against this background several other genes with a role in cholesterol metabolism have been investigated for association with AD...
  71. pmc RNA dust: where are the genes?
    Piero Carninci
    Omics Science Center, RIKEN Yokohama Institute, Kanagawa, Japan
    DNA Res 17:51-9. 2010
    ..However, in contrast with this paucity of protein coding 'genes', there is an enormous complexity in transcription and the protein coding mRNAs contribute to a very small ..
  72. pmc ENDEAVOUR update: a web resource for gene prioritization in multiple species
    Leon Charles Tranchevent
    Department of Electrical Engineering ESAT SCD, Katholieke Universiteit Leuven, Belgium
    Nucleic Acids Res 36:W377-84. 2008
    ..and open to all users and there is no login requirement) is a web resource for the prioritization of candidate genes. Using a training set of genes known to be involved in a biological process of interest, our approach consists of (..
  73. ncbi Stress-related differential expression of multiple beta-carotene ketolase genes in the unicellular green alga Haematococcus pluvialis
    Jun Chao Huang
    Department of Botany, The University of Hong Kong, Pokfulam Road, Hong Kong, PR China
    J Biotechnol 122:176-85. 2006
    ..Here we report the identification and expression of three different beta-carotene ketolase genes (bkt) that are involved in the biosynthesis of astaxanthin in a single strain of the alga...
  74. pmc Bioinformatic identification and characterization of human endothelial cell-restricted genes
    Manoj Bhasin
    Division of Interdisciplinary Medicine and Biotechnology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215, USA
    BMC Genomics 11:342. 2010
    In this study, we used a systematic bioinformatics analysis approach to elucidate genes that exhibit an endothelial cell (EC) restricted expression pattern, and began to define their regulation, tissue distribution, and potential ..
  75. doi Confirmed rare copy number variants implicate novel genes in schizophrenia
    Gloria W C Tam
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Biochem Soc Trans 38:445-51. 2010
    ..Identification of sets of genes underlying human mental disorders is a path towards this objective...
  76. pmc A high-density association screen of 155 ion transport genes for involvement with common migraine
    Dale R Nyholt
    Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Brisbane4029, Queensland, Australia
    Hum Mol Genet 17:3318-31. 2008
    ..between monogenic Familial Hemiplegic Migraine (FHM) and common migraine subtypes, and the fact that all three FHM genes are involved in the transport of ions, suggest that ion transport genes may underlie susceptibility to common ..
  77. pmc Assessing the functional coherence of gene sets with metrics based on the Gene Ontology graph
    Adam J Richards
    Department of Biochemistry and Molecular Biology, Medical University of South Carolina, Charleston, SC 29425, USA
    Bioinformatics 26:i79-87. 2010
    ..Instead of testing for significance of individual terms, this study is concerned with the task of assessing the global functional coherence of gene sets, for which novel metrics and statistical methods have been devised...
  78. ncbi Time to give up on a single explanation for autism
    Francesca Happe
    Francesca Happé, Angelica Ronald and Robert Plomin are at the Institute of Psychiatry, Kings College London, De Crispigny Park, London SE5 8AF, UK
    Nat Neurosci 9:1218-20. 2006
    ..Twin data suggest largely nonoverlapping genes acting on each of these traits...
  79. pmc Annotating genes and genomes with DNA sequences extracted from biomedical articles
    Maximilian Haeussler
    Faculty of Life Sciences, University of Manchester, Manchester, UK
    Bioinformatics 27:980-6. 2011
    ..Existing text-mining approaches focus on finding gene names or identifiers in English text. These are often not unique and do not identify the exact genomic location of a study...
  80. ncbi Expression of the zebrafish CD133/prominin1 genes in cellular proliferation zones in the embryonic central nervous system and sensory organs
    Maura McGrail
    Department of Genetics, Development and Cell Biology, Iowa State University, Ames, Iowa 50011, USA
    Dev Dyn 239:1849-57. 2010
    ..The expression patterns of the zebrafish prominin1a and b genes were analyzed during embryogenesis using whole mount in situ hybridization...
  81. pmc Natural products version 2.0: connecting genes to molecules
    Christopher T Walsh
    Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, 240 Longwood Avenue, Boston, Massachusetts 02115, USA
    J Am Chem Soc 132:2469-93. 2010
    ..In this Perspective, we explore how connecting Nature's small molecules to the genes that encode them has sparked a renaissance in natural product research, focusing primarily on the biosynthesis of ..
  82. pmc Functional genomic identification of genes required for male gonadal differentiation in Caenorhabditis elegans
    Andrea K Kalis
    Masonic Cancer Center, University of Minnesota, Minneapolis, Minnesota 55455, USA
    Genetics 185:523-35. 2010
    ..To identify genes involved in this process, we performed a genome-wide RNAi screen using sex-specifically expressed gonadal GFP ..
  83. doi High-performance gene name normalization with GeNo
    Joachim Wermter
    Jena University Language and Information Engineering Lab, Friedrich Schiller Universitat Jena, Fürstengraben 30, 07743 Jena, Germany
    Bioinformatics 25:815-21. 2009
    ..Their recognition and normalization remains a challenging task because of widespread gene name ambiguities within species, across species, with common English words and with medical sublanguage terms...
  84. ncbi Phytophthora genome sequences uncover evolutionary origins and mechanisms of pathogenesis
    Brett M Tyler
    Virginia Bioinformatics Institute, Virginia Polytechnic Institute and State University, Blacksburg, VA 24061, USA
    Science 313:1261-6. 2006
    ..share the kingdom Stramenopila with photosynthetic algae such as diatoms, and the presence of many Phytophthora genes of probable phototroph origin supports a photosynthetic ancestry for the stramenopiles...
  85. pmc Preferential regulation of duplicated genes by microRNAs in mammals
    Jingjing Li
    Department of Molecular Genetics, University of Toronto, 1 King s College Circle, Toronto, ON, M5S 1A8, Canada
    Genome Biol 9:R132. 2008
    ..Specifically, while mammalian paralogs are known to overcome their initial complete functional redundancy through variation in regulation and expression, the potential involvement of microRNAs in this process has not been investigated...
  86. ncbi CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
    Y Kawaguchi
    Department of Pharmacology, Kyoto University Faculty of Medicine, Japan
    Nat Genet 8:221-8. 1994
    ..Southern blot analyses and genomic cloning demonstrates the existence of related genes. These results raise the possibility that similar abnormalities in related genes may give rise to diseases similar ..
  87. ncbi WAF1, a potential mediator of p53 tumor suppression
    W S El-Deiry
    Oncology Center, Johns Hopkins University School of Medicine, Baltimore, Maryland 21231
    Cell 75:817-25. 1993
    The ability of p53 to activate transcription from specific sequences suggests that genes induced by p53 may mediate its biological role as a tumor suppressor...
  88. pmc Functional analysis of peroxisome-proliferator-responsive element motifs in genes of fatty acid-binding proteins
    Christian Schachtrup
    Department of Biochemistry, University of Munster, Wilhelm Klemm Str 2, 48149 Munster, Germany
    Biochem J 382:239-45. 2004
    ..In the same way, C2C12 myoblasts transfected with promoter fragments of E-FABP and H-FABP genes containing putative PPREs are also not activated through stimulation of PPARs with bezafibrate applied to the ..
  89. ncbi Haploid genetic screens in human cells identify host factors used by pathogens
    Jan E Carette
    Whitehead Institute for Biomedical Research, 9 Cambridge Center, Cambridge, MA 02142, USA
    Science 326:1231-5. 2009
    ..Using this approach, we identified host factors essential for infection with influenza and genes encoding important elements of the biosynthetic pathway of diphthamide, which are required for the cytotoxic ..
  90. pmc WEGO: a web tool for plotting GO annotations
    Jia Ye
    James D Watson Institute of Genome Sciences of Zhejiang University, Hangzhou 310008, China
    Nucleic Acids Res 34:W293-7. 2006
    ..genomics.org.cn. There are two available mirror sites at http://wego2.genomics.org.cn and http://wego.genomics.com.cn. Any suggestions are welcome at wego@genomics.org.cn...
  91. pmc AUGUSTUS: ab initio prediction of alternative transcripts
    Mario Stanke
    Institut fur Mikrobiologie und Genetik, Abteilung Bioinformatik, Goldschmidtstrasse 1, 37077 Gottingen, Germany
    Nucleic Acids Res 34:W435-9. 2006
    ..where user-defined regular expressions can be searched against putative proteins encoded by the predicted genes. The AUGUSTUS web interface and the downloadable open-source stand-alone program are freely available from http://..
  92. ncbi Balancing selection is the main force shaping the evolution of innate immunity genes
    Anna Ferrer-Admetlla
    Departament de Ciencies Experimentals i de la Salut, Universitat Pompeu Fabra, Unitat de Biologia Evolutiva, Barcelona, Catalonia, Spain
    J Immunol 181:1315-22. 2008
    ..Potentially lethal pathogens are likely to have exerted important selective pressures on our genome, so immunity genes can be expected to show molecular signatures of the adaptation of human populations to these recent conditions...
  93. ncbi Differential expression of multiple fork head related genes during gastrulation and axial pattern formation in the mouse embryo
    H Sasaki
    Department of Cell Biology, Vanderbilt University Medical School, Nashville, Tennessee 37232
    Development 118:47-59. 1993
    Four genes encoding fork-head-domain-containing proteins (FD genes) have been isolated from a mouse 8.5 days post coitum (p.c.) embryo cDNA library. Two are mouse homologues of rat HNF-3 beta and HNF-3 alpha...
  94. pmc GeneMark: web software for gene finding in prokaryotes, eukaryotes and viruses
    John Besemer
    School of Biology, Georgia Institute of Technology, Atlanta, GA 30332, USA
    Nucleic Acids Res 33:W451-4. 2005
    ..In addition, genes in prokaryotic sequences from novel genomes can be identified using models derived on the spot upon sequence ..
  95. pmc Perspective on genes and mutations causing retinitis pigmentosa
    Stephen P Daiger
    Department of Ophthalmology and Visual Science, School of Medicine, The University of Texas Health Science Center, Houston, TX 77030, USA
    Arch Ophthalmol 125:151-8. 2007
    Exceptional progress has been made during the past two decades in identifying genes causing inherited retinal diseases such as retinitis pigmentosa...
  96. pmc Background selection in single genes may explain patterns of codon bias
    Laurence Loewe
    Institute of Evolutionary Biology, School of Biological Sciences, University of Edinburgh, Edinburgh EH9 3JT, United Kingdom
    Genetics 175:1381-93. 2007
    ..Here we focus on the level of a single gene or small group of genes and investigate how the effects of background selection caused by nonsynonymous mutations are influenced by the ..
  97. ncbi The locus of evolution: evo devo and the genetics of adaptation
    Hopi E Hoekstra
    Department of Organismic and Evolutionary Biology and The Museum of Comparative Zoology, Harvard University, 26 Oxford Street, Cambridge, Massachusetts 02138, USA
    Evolution 61:995-1016. 2007
    ..affecting morphology are more likely to occur in the cis-regulatory regions than in the protein-coding regions of genes. This argument rests on two claims: (1) the modular nature of cis-regulatory elements largely frees them from ..
  98. ncbi Improved detection of overrepresentation of Gene-Ontology annotations with parent child analysis
    Steffen Grossmann
    Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany
    Bioinformatics 23:3024-31. 2007
    MOTIVATION: High-throughput experiments such as microarray hybridizations often yield long lists of genes found to share a certain characteristic such as differential expression...
  99. pmc Natural selection on genes that underlie human disease susceptibility
    Ran Blekhman
    Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
    Curr Biol 18:883-9. 2008
    What evolutionary forces shape genes that contribute to the risk of human disease? Do similar selective pressures act on alleles that underlie simple versus complex disorders [1-3]? Answers to these questions will shed light onto the ..

Research Grants136 found, 100 shown here

  1. STATISITICAL DESIGN, MONITORING &COORD. OF VISION CLINICAL TRIALS &EPIDEMIOLOGY
    Keri Hammel; Fiscal Year: 2013
    ..There are no effective treatments for achromatopsia. - Four genes currently are known to cause achromatopsia...
  2. STATISITICAL DESIGN, MONITORING &COORD. OF VISION CLINICAL TRIALS &EPIDEMIOLOGY
    Keri Hammel; Fiscal Year: 2012
    ..There are no effective treatments for achromatopsia. - Four genes currently are known to cause achromatopsia...
  3. Discovery metabolite profiling of the prolyl peptidases
    Alan Saghatelian; Fiscal Year: 2009
    ..Researchers have recently developed a number of methods to identify the genes, proteins, and metabolites associated with disease...
  4. Genetic variation and regulatory networks: Mechanisms and complexity
    DANA PE ER; Fiscal Year: 2009
    ..These tools will be made publicly available, including a friendly graphical user interface and visualization. ..
  5. Variation in M. tuberculosis in response to host selection
    Sarah Fortune; Fiscal Year: 2009
    ..In these studies, we expect to provide fundamental insights into the mechanisms and targets of diversifying immune selection in M. tuberculosis. ..
  6. Personalized Clinical Diagnostics and Beyond: Integrated Ring Resonator Arrays
    Ryan Bailey; Fiscal Year: 2009
    ..This technology promises to broadly impact the landscape of the biomedical sciences, both meeting the clinical diagnostic challenges of today and pioneering the paradigm-shifting discoveries of tomorrow. ..
  7. Impact of Antibiotics and Vaccines on the in vivo Evolution of S. pneumoniae
    Garth Ehrlich; Fiscal Year: 2009
    ..if coats (what the vaccine is directed against) or whether these escape strains are truly they possess most of the genes of the clonal lineages that have just hidden in new outer fundamentally alters their cell surface which could ..
  8. Biomedical Simulations Resource (BMSR)
    DAVID Z D apos ARGENIO; Fiscal Year: 2010
    ..DNA display and DTS facilitate direct chemical translation of DNA genes into covalently attached synthetic small-molecule gene products...
  9. NIH Director's Pioneer Award
    Junying Yuan; Fiscal Year: 2009
    ..No Abstract provided ..
  10. A Network Biology Approach to Antibiotic Action and Bacterial Defense Mechanisms
    James Collins; Fiscal Year: 2009
    ..Accordingly, there is a need for systems biology and synthetic biology approaches to discern the interplay between genes, proteins and pathways in furthering our understanding of how bacteria respond and defend themselves against ..
  11. Understanding the Cognitive Impact of Early Life Epilepsy
    Frances Jensen; Fiscal Year: 2009
    ..abstract_text> ..
  12. Project 1: In vitro Studies: Correlate the physical and chemical characteristics
    David L Eaton; Fiscal Year: 2011
    ..to antioxidant response elements (AREs) present in the promoters of many Phase II and oxidative stress-responsive genes ([51, 52]...
  13. Biomedical Simulations Resource (BMSR)
    DAVID D ARGENIO; Fiscal Year: 2009
    ..DNA display and DTS facilitate direct chemical translation of DNA genes into covalently attached synthetic small-molecule gene products...
  14. NIH Director's Pioneer Award
    ERICH JARVIS; Fiscal Year: 2009
    ..Repairing the pathway in vocal learners, when damaged, would have profound impact for correcting neurological disorders of speech. ..
  15. High Throughput Genotyping and DNA Sequencing for Studying the Genetic Contributi
    Sonia Dua; Fiscal Year: 2013
    ..j. In special cases, assist Investigators in identifying SNPs in regions or in genes of interest in order to put together a custom SNP genotyping panel for use on their samples. k...
  16. Tissue Culture Laboratory
    Joseph Goldstein; Fiscal Year: 2009
    ..cell lines multiple plasmid constructs containing either the protein-coding region or the promoter regions of the genes for the LDL receptor, HMG CoA reductase, HMG CoA synthase, the oxysterol binding protein, SREBP-1 and -2, SCAP, ..
  17. Molecular Biology Core Laboratory
    David Russell; Fiscal Year: 2009
    ..These techniques and methods are crucial to our studies on the expression and purification of essentially all genes and proteins with which we work...
  18. ADMINISTRATIVE CORE
    Dennis L Kasper; Fiscal Year: 2011
    ..One portion of this project started as a basic study of genes involved in the biosynthesis of the O polysaccharide component of the lipopolysaccharide (LPS) of Francisella ..
  19. Mice Humanized with Hepatocytes and iPS Cells from Patients with Metabolic Diseas
    Stephen C Strom; Fiscal Year: 2010
    ..Liver-based metabolic disease can result from mutations in genes in these critical pathways...
  20. Mice Humanized with Hepatocytes and iPS Cells from Patients with Metabolic Diseas
    Stephen Strom; Fiscal Year: 2009
    ..Liver-based metabolic disease can result from mutations in genes in these critical pathways...
  21. Fibrotic Sequelae of Childhood Renal Disease
    Agnes Fogo; Fiscal Year: 2007
    ..Apart from the genes responsible for the manifestation of cyst formation per se, the loss of renal function in PKD is determined by ..
  22. Optimization of DNA Repair by Abh8
    Lauren Endres; Fiscal Year: 2013
    ..If these mutations disrupt the function of key regulatory genes involved in cell growth and homeostasis, premature aging or cancer can occur...
  23. Regulation of HSV-1 Gene Expression and Replication by Nuclear Hormone Receptors
    SHAOCHUNG VICTOR HSIA; Fiscal Year: 2012
    ..demonstrate that the liganded receptor (T3/TR, the hormone-receptor complex) controls the expression of HSV-1 key genes and replication...
  24. Regulation of HSV-1 Gene Expression and Replication by Nuclear Hormone Receptors
    SHAOCHUNG VICTOR HSIA; Fiscal Year: 2013
    ..demonstrate that the liganded receptor (T3/TR, the hormone-receptor complex) controls the expression of HSV-1 key genes and replication...
  25. Oncogenic Kit receptor signaling in vivo
    Peter Besmer; Fiscal Year: 2010
    ..gene expression profiling indicates that blocking SFK signaling reduces KitL induced expression of TH2-cytokine genes in BMMC...
  26. Elafin to reverse pulmonary arterial hypertension
    Marlene Rabinovitch; Fiscal Year: 2011
    ..We have shown that signaling via BMPRII induces PPARy dependent regulation of genes such as apolipoprotein E that repress growth factor (PDGF-BB) mediated-signaling and abrogate SMC proliferation (..
  27. NCCU-LCCC Partrnership in Cancer Research (1 of 2)
    Micheler Ricardo Richardson; Fiscal Year: 2010
    ..Duke) is an assistant professor of molecular biology with expertise in the study of epigenetic silencing of genes in gynecologic malignancies. She has worked on funded projects in this area and has published in this area...
  28. NCCU-LCCC Partnership in Cancer Research (2 of 2)
    HENRY SHELTON EARP; Fiscal Year: 2010
    ..abstract_text> ..
  29. Iron in the pathogenesis of Friedreich's ataxia
    ARNULF HANS WERNER KOEPPEN; Fiscal Year: 2010
    ..transmission of guanine-adenine-adenine (GAA) trinucleotide repeat expansions in parental frataxin (FXN) genes. The result is deficiency of frataxin...
  30. Role of the Y-Located TSPY Gene in Human Oncogenesis
    Yun Fai Chris Lau; Fiscal Year: 2013
    ..that TSPY interacts with androgen receptor (AR) and exacerbates its ligand-dependent transactivation of responsive genes while TSPX interacts but represses AR functions...
  31. Role of the Y-Located TSPY Gene in Human Oncogenesis
    Yun Fai Chris Lau; Fiscal Year: 2011
    ..that TSPY interacts with androgen receptor (AR) and exacerbates its ligand-dependent transactivation of responsive genes while TSPX interacts but represses AR functions...
  32. NITRIC OXIDE SYNTHASE IN THE JUXTAGLOMERULAR APPARATUS
    Christopher S Wilcox; Fiscal Year: 2010
    ..to the perfusate of the tubular lumen or to administer small interference RNAs to the rats to knock down targeted genes for key mediators in the ADMA and ROS pathways to study the mechanism of the profoundly altered proximal ..
  33. Identification of Genetic and Epigenetic Alterations in Spondyloarthritis
    Tibor T Glant; Fiscal Year: 2013
    ..However, the presence of HLA-B27 alone is not sufficient for disease development. A few non-MHC candidate genes have also been implicated in AS...
  34. AMPK as a redox sensor and modulator
    Ming Hui Zou; Fiscal Year: 2010
    ..Concomitantly, pharmacological or genetic inhibition of AMPK markedly increased ROS, NF?B, and inflammatory genes (ICAM-1, VCAM-1, and E-selectin) in cultured endothelial cells, differentiated 3T3L1 adipocytes, and cultured ..
  35. ROLE OF S-ADENOSYLMETHIONINE ON UBC9 AND SUMOYLATION IN LIVER CANCER AND ALCOHOLI
    Maria Lauda Tomasi; Fiscal Year: 2010
    ..In mammals two MAT genes, MAT1A and MAT2A, encode for two catalytic subunits of MAT, 11 and 12, respectively...
  36. H1R Signaling and Immune Deviation in EAE
    Cory Teuscher; Fiscal Year: 2013
    ..that Bphse and Shs reside within a functional linkage disequilibrium (LD)-domain linked to Hrh1 and may contain genes related to H1R folding, trafficking, or signaling...
  37. H1R Signaling and Immune Deviation in EAE
    Cory Teuscher; Fiscal Year: 2010
    ..that Bphse and Shs reside within a functional linkage disequilibrium (LD)-domain linked to Hrh1 and may contain genes related to H1R folding, trafficking, or signaling...
  38. Pharmacogenetics of obesity and endocannabinergic modulation (POEM)
    Russell A Wilke; Fiscal Year: 2009
    ..from the International Human Haplotype Map (HapMap), we have begun genotyping three critical eCB/CB1 signaling genes, and testing for association between variation in these candidate genes and obesity and obesity-related metabolic ..
  39. Pharmacogenetics of obesity and endocannabinergic modulation (POEM)
    Russell A Wilke; Fiscal Year: 2010
    ..from the International Human Haplotype Map (HapMap), we have begun genotyping three critical eCB/CB1 signaling genes, and testing for association between variation in these candidate genes and obesity and obesity-related metabolic ..
  40. Brain activation to food stimuli in obese and lean adolescents with high and low
    Susan Carnell; Fiscal Year: 2010
    ..on the K99 to investigate neural pathways associated with genetic obesity risk which could mediate the effect of genes on appetite and weight...
  41. Physiological role of PRDM16 in brown fat development and energy balance
    Patrick Seale; Fiscal Year: 2009
    ..Notably, BAT from c/EBPp-deficient fetal mice displayed dramatically reduced expression of thermogenic genes and elevated levels of muscle-specific transcripts analogous to what was observed in P/?OM) 6-deficient tissue...
  42. Physiological role of PRDM16 in brown fat development and energy balance
    Patrick Seale; Fiscal Year: 2010
    ..Notably, BAT from c/EBPp-deficient fetal mice displayed dramatically reduced expression of thermogenic genes and elevated levels of muscle-specific transcripts analogous to what was observed in P/?OM) 6-deficient tissue...
  43. Prevention of Acute Lung Injury by IL-6 activated STAT3
    Ana Moran; Fiscal Year: 2010
    ..Microarray analysis in rat lungs showed that T/HS increased the expression of genes in the ontologic category of cell death and altered 70% of known apoptosis-related genes...
  44. Principles of Therapy in Cerebellar Disease: Explorations in Ion Channel Mutants
    JOHN SAMUEL STAHL; Fiscal Year: 2013
    ..to genetic errors, other degenerative processes whose causes have yet to be discovered, and inherited mutations of genes that ultimately control neuronal activity patterns...
  45. Non-Human Primate Model of Gluten-Sensitive Enteropathy
    Karol Sestak; Fiscal Year: 2009
    ..Furthermore, we identified 2 DRB haplotypes and/or 4 DQ allelic pairs as candidate MHC II genes for immunogenetic association with gluten sensitivity in rhesus macaques...
  46. Air Pollution on Adiposity and Vascular Dysfunction: White or Brown Matters?
    Qinghua Sun; Fiscal Year: 2013
    ..and assessed for indices for ER stress and apoptosis, mitochondria content, expression of key-mitochondrial genes and mitochondrial oxygen consumption (function)...
  47. STRUCTURAL STUDIES OF SSDNA VIRUSES
    Mavis Agbandje-McKenna; Fiscal Year: 2011
    ..The AAVs can be used to transfer non-host genes efficiently into primary cells in vivo, and in most cases, expression of the transgene appears to be long lived...
  48. Transcription factors regulating sensory gene expression and pain pathways
    Eric Turner; Fiscal Year: 2009
    ..sensory axon growth, fail to develop proprioceptors, and have a profound defect in the expression of multiple genes related to pain pathways...
  49. Genomics of Antiviral Responses of Anopheles gambiae Against O'nyong-nyong Virus
    Young S Hong; Fiscal Year: 2010
    ..is an exploratory project (R21) that will utilize a mosquito Anopheles gambiae as a model organism to discover genes and gene products involved in mosquito immune responses against arbovirus infections...
  50. Genomics of Antiviral Responses of Anopheles gambiae Against O'nyong-nyong Virus
    Young Hong; Fiscal Year: 2009
    ..is an exploratory project (R21) that will utilize a mosquito Anopheles gambiae as a model organism to discover genes and gene products involved in mosquito immune responses against arbovirus infections...
  51. Development of CNS-targeted AAV vectors
    MIGUEL S ESTEVES; Fiscal Year: 2010
    ..AAV capsid library with a diversity of 5x109 clones generated by DNA shuffling of AAV1, 2, 5, 8, 9, and rh10 Cap genes, to identify new brain- and spinal cord-tropic AAV capsids after intravenous or ICV delivery in adult animals...
  52. Development of CNS-targeted AAV vectors
    Miguel Esteves; Fiscal Year: 2009
    ..AAV capsid library with a diversity of 5x109 clones generated by DNA shuffling of AAV1, 2, 5, 8, 9, and rh10 Cap genes, to identify new brain- and spinal cord-tropic AAV capsids after intravenous or ICV delivery in adult animals...
  53. EVOLUTION OF IMMUNE RECOGNITION AND EVASION
    Austin Hughes; Fiscal Year: 1993
    ..involve statistical analysis of published DNA sequences, of which there are a large number now available for MHC genes of several mammalian species; for other immune system genes; and for genes of parasites encoding immunogenic ..
  54. DNA methylation in aging, race and prostate cancer
    Rajvir Dahiya; Fiscal Year: 2006
    ..Specific hypotheses: 1) The DNA methylation status of most frequently deleted genes [ERs, E-cadherin, CD44 and GSTPI (glutathione S-transferase pi)] will be different in aging and race-related ..
  55. DNA methylation in aging, race and prostate cancer
    Rajvir Dahiya; Fiscal Year: 2002
    ..Specific hypotheses: 1) The DNA methylation status of most frequently deleted genes [ERs, E-cadherin, CD44 and GSTPI (glutathione S-transferase pi)] will be different in aging and race-related ..
  56. DNA methylation in aging, race and prostate cancer
    Rajvir Dahiya; Fiscal Year: 2005
    ..Specific hypotheses: 1) The DNA methylation status of most frequently deleted genes [ERs, E-cadherin, CD44 and GSTPI (glutathione S-transferase pi)] will be different in aging and race-related ..
  57. DNA methylation in aging, race and prostate cancer
    Rajvir Dahiya; Fiscal Year: 2004
    ..Specific hypotheses: 1) The DNA methylation status of most frequently deleted genes [ERs, E-cadherin, CD44 and GSTPI (glutathione S-transferase pi)] will be different in aging and race-related ..
  58. DNA methylation in aging, race and prostate cancer
    Rajvir Dahiya; Fiscal Year: 2003
    ..Specific hypotheses: 1) The DNA methylation status of most frequently deleted genes [ERs, E-cadherin, CD44 and GSTPI (glutathione S-transferase pi)] will be different in aging and race-related ..
  59. BIOLOGY OF EARLY RENAL CYSTOGENESIS IN THE CPK MOUSE
    Lisa Guay Woodford; Fiscal Year: 2002
    ..cystic disease in both humans and mouse models involves a multigenic pathway in which the disease-susceptibility genes act by cellular recessive mechanisms...
  60. BIOLOGY OF EARLY RENAL CYSTOGENESIS IN THE CPK MOUSE
    Lisa Guay Woodford; Fiscal Year: 2001
    ..cystic disease in both humans and mouse models involves a multigenic pathway in which the disease-susceptibility genes act by cellular recessive mechanisms...
  61. BIOLOGY OF EARLY RENAL CYSTOGENESIS IN THE CPK MOUSE
    Lisa Guay Woodford; Fiscal Year: 2003
    ..cystic disease in both humans and mouse models involves a multigenic pathway in which the disease-susceptibility genes act by cellular recessive mechanisms...
  62. BIOLOGY OF EARLY RENAL CYSTOGENESIS IN THE CPK MOUSE
    Lisa Guay Woodford; Fiscal Year: 2000
    ..cystic disease in both humans and mouse models involves a multigenic pathway in which the disease-susceptibility genes act by cellular recessive mechanisms...
  63. TIM Family of Genes: Role in T Cell Immunity and Tolerance
    Vijay Kuchroo; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): In this revised PPG, we propose to analyze the function of a new family of genes that we have recently discovered called TIM (T cell Immunoglobulin and Mucin domain containing molecules), which was ..
  64. Colitis Induced by immune responses to luminal bacteria-mouse
    RYAN SARTOR; Fiscal Year: 2009
    ..4 genes associated with Crohn's disease (NOD 2, ATG 16L1, NCF4, IGRM) regulate bacterial killing, suggesting that ..
  65. The Role of RNA Splicing Factors in Retinal Degeneration
    Michael Farkas; Fiscal Year: 2010
    ..While mutations in many genes have been implicated in the disease, we propose to investigate how mutations in genes required for RNA splicing ..
  66. Colitis Induced by immune responses to luminal bacteria-mouse
    RYAN BALFOUR SARTOR; Fiscal Year: 2010
    ..4 genes associated with Crohn's disease (NOD 2, ATG 16L1, NCF4, IGRM) regulate bacterial killing, suggesting that ..
  67. The Role of RNA Splicing Factors in Retinal Degeneration
    Michael Farkas; Fiscal Year: 2012
    ..While mutations in many genes have been implicated in the disease, we propose to investigate how mutations in genes required for RNA splicing ..
  68. CELL CYCLE REGULATION OF THE YEAST HO GENE
    LINDA BREEDEN; Fiscal Year: 2000
    A large number of yeast genes, including several of the cyclins, are required for the transition between G1 and S. These genes are transcribed at two different times...
  69. CELL CYCLE REGULATION OF THE YEAST HO GENE
    LINDA BREEDEN; Fiscal Year: 2001
    A large number of yeast genes, including several of the cyclins, are required for the transition between G1 and S. These genes are transcribed at two different times...
  70. CELL CYCLE REGULATION OF THE YEAST HO GENE
    LINDA BREEDEN; Fiscal Year: 1999
    A large number of yeast genes, including several of the cyclins, are required for the transition between G1 and S. These genes are transcribed at two different times...
  71. Unbiased genome-wide screen to identify genes regulating mucous cell hyperplasia
    Jeffrey Whitsett; Fiscal Year: 2009
    ..Synopsis: This Challenge Research project will undertake 1) a mouse genome-wide shRNA library screen to identify genes and associated gene networks inducing or inhibiting goblet cell differentiation and mucous hypersecretion, and 2) ..
  72. Unbiased genome-wide screen to identify genes regulating mucous cell hyperplasia
    Jeffrey A Whitsett; Fiscal Year: 2010
    ..Synopsis: This Challenge Research project will undertake 1) a mouse genome-wide shRNA library screen to identify genes and associated gene networks inducing or inhibiting goblet cell differentiation and mucous hypersecretion, and 2) ..
  73. Genetics of Osteoporotic Fractures in Chinese
    Hong Wen Deng; Fiscal Year: 2010
    ..So far, extensive efforts have been made to identify genes associated with BMD, with few studies directly examining OF as the study phenotype...
  74. Genetics of Osteoporotic Fractures in Chinese
    Hong Wen Deng; Fiscal Year: 2009
    ..So far, extensive efforts have been made to identify genes associated with BMD, with few studies directly examining OF as the study phenotype...
  75. Integrative Pathway Analysis of Eqigenomic/transcriptional Alteration in HNSCC
    Joseph Califano; Fiscal Year: 2009
    ..alteration in human cancers has been focused on discovery of specific promoter hypermethylated tumor suppressor genes. We have recently demonstrated that genome-wide epigenetic unmasking and promoter hypomethylation frequently ..
  76. RpoS-mediated virulence regulation in Borrelia burgdorferi
    JON SCOTT BLEVINS; Fiscal Year: 2010
    ..The optimal experimental approach to identify genes that respond to a particular regulator would be to expose the bacteria to the specific condition(s) that activate ..
  77. Mutations detection and classification in ADPKD
    Sandro Rossetti; Fiscal Year: 2010
    ..ADPKD is caused by mutations in two genes, PKD1 and PKD2...
  78. Cohort Study of Genetic Susceptibility to Cutaneous Malignant Melanoma
    Jiali Han; Fiscal Year: 2009
    ..a critical role in protecting against melanoma;however, epidemiologic data are limited due to a limited number of genes and polymorphisms examined in initial studies with small sample sizes...
  79. Cohort Study of Genetic Susceptibility to Cutaneous Malignant Melanoma
    Jiali Han; Fiscal Year: 2010
    ..a critical role in protecting against melanoma;however, epidemiologic data are limited due to a limited number of genes and polymorphisms examined in initial studies with small sample sizes...
  80. Cohort Study of Genetic Susceptibility to Cutaneous Malignant Melanoma
    Jiali Han; Fiscal Year: 2009
    ..a critical role in protecting against melanoma;however, epidemiologic data are limited due to a limited number of genes and polymorphisms examined in initial studies with small sample sizes...
  81. Genetic Control of Axial Patterning in Drosophila Eye
    Amit Singh; Fiscal Year: 2010
    ..DV patterning is the first axis formed in eye. Our goal is to identify key genes involved in early eye patterning...
  82. Genetic control of limb development by Pbx
    Licia Selleri; Fiscal Year: 2010
    ..While the fly has only one TALE-encoding gene, Exd, the mouse has four Pbx genes (Pbx1-4)...
  83. Tat and CDK9 on gene expression alterations coupled to HIV-1 Associated Dementia
    Xavier Grana; Fiscal Year: 2009
    ..forms Positive Transcription Elongation Factors (P-TEFb) thought to be required for the expression of cellular genes. We have investigated the effect of limiting CDK9 activity in a human astrocytoma cell line...
  84. Tat and CDK9 on gene expression alterations coupled to HIV-1 Associated Dementia
    Xavier Grana; Fiscal Year: 2010
    ..forms Positive Transcription Elongation Factors (P-TEFb) thought to be required for the expression of cellular genes. We have investigated the effect of limiting CDK9 activity in a human astrocytoma cell line...
  85. Serotonin, Autism, and investigating cell types for CNS disorders.
    Joseph Dougherty; Fiscal Year: 2009
    ..Daniel Geschwind. His dissertation entailed gene expression profiling to identify neural stem and progenitor cell genes, followed by anatomical and functional studies of candidate genes...
  86. Serotonin, Autism, and investigating cell types for CNS disorders.
    Joseph D Dougherty; Fiscal Year: 2010
    ..Daniel Geschwind. His dissertation entailed gene expression profiling to identify neural stem and progenitor cell genes, followed by anatomical and functional studies of candidate genes...