disease

Summary

Summary: A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown.

Top Publications

  1. ncbi Wnt/β-catenin signaling and disease
    Hans Clevers
    Hubrecht Institute, KNAW and University Medical Center Utrecht, The Netherlands
    Cell 149:1192-205. 2012
  2. pmc Autophagy in the pathogenesis of disease
    Beth Levine
    Department of Internal Medicine, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA
    Cell 132:27-42. 2008
  3. pmc The DNA-damage response in human biology and disease
    Stephen P Jackson
    The Gurdon Institute and Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge CB2 1QN, UK
    Nature 461:1071-8. 2009
  4. pmc Network medicine: a network-based approach to human disease
    Albert Laszlo Barabasi
    Center for Complex Networks Research and Department of Physics, Northeastern University, 110 Forsyth Street, 111 Dana Research Center, Boston, Massachusetts 02115, USA
    Nat Rev Genet 12:56-68. 2011
  5. ncbi The Wnt signaling pathway in development and disease
    Catriona Y Logan
    Department of Developmental Biology, Beckman Center, Howard Hughes Medical Institute, Stanford University, Stanford, CA 94305, USA
    Annu Rev Cell Dev Biol 20:781-810. 2004
  6. pmc Systematic localization of common disease-associated variation in regulatory DNA
    Matthew T Maurano
    Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
    Science 337:1190-5. 2012
  7. pmc Nitric oxide and peroxynitrite in health and disease
    Pal Pacher
    Section on Oxidative Stress Tissue Injury, Laboratory of Physiologic Studies, National Institutes of Health, National Institute of Alcohol Abuse and Alcoholism, Bethesda, Maryland, USA
    Physiol Rev 87:315-424. 2007
  8. pmc Macrophage biology in development, homeostasis and disease
    Thomas A Wynn
    Immunopathogenesis Section, Program in Tissue Immunity and Repair and Laboratory of Parasitic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20877 8003, USA
    Nature 496:445-55. 2013
  9. pmc Interactome networks and human disease
    Marc Vidal
    Center for Cancer Systems Biology and Department of Cancer Biology, Dana Farber Cancer Institute, Boston, MA 02215, USA
    Cell 144:986-98. 2011
  10. pmc MicroRNAs in stress signaling and human disease
    Joshua T Mendell
    Department of Molecular Biology, UT Southwestern Medical Center, Dallas, TX 75390 9148, USA
    Cell 148:1172-87. 2012

Research Grants

  1. INTRAUTERINE ASPHYXIAL ENCEPHALOPATHY
    Peter Gluckman; Fiscal Year: 2001
  2. GPx-3, Vascular Oxidant Stress, and Thrombosis
    Joseph Loscalzo; Fiscal Year: 2006
  3. HOMOCYST(E)INE, OXIDATIVE STRESS, AND NITRIC OXIDE
    Joseph Loscalzo; Fiscal Year: 2004
  4. QUESTIONS ABOUT BEREAVEMENT: ANSWERS FROM THE CLOC STUDY
    Randolph Nesse; Fiscal Year: 2001
  5. MPO and NO signaling in neointima formation
    Chunxiang Zhang; Fiscal Year: 2010
  6. Metabolism of Carcinogens and Drugs by Human P450s
    F Guengerich; Fiscal Year: 2005
  7. Bone-Sparing by Ca Salts With & Without Extra Phosphorus
    Robert Heaney; Fiscal Year: 2008
  8. Race and Public Communication about Human Variation
    Celeste Condit; Fiscal Year: 2003
  9. fMRI Activity During the Visual Control of Force
    DAVID VAILLANCOURT; Fiscal Year: 2004
  10. Lay and Expert Models of Gene-Environment Interaction
    Celeste Condit; Fiscal Year: 2008

Detail Information

Publications237 found, 100 shown here

  1. ncbi Wnt/β-catenin signaling and disease
    Hans Clevers
    Hubrecht Institute, KNAW and University Medical Center Utrecht, The Netherlands
    Cell 149:1192-205. 2012
    ..In this Review, we provide an update of the core Wnt/β-catenin signaling pathway, discuss how its various components contribute to disease, and pose outstanding questions to be addressed in the future.
  2. pmc Autophagy in the pathogenesis of disease
    Beth Levine
    Department of Internal Medicine, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA
    Cell 132:27-42. 2008
    ..protect organisms against diverse pathologies, including infections, cancer, neurodegeneration, aging, and heart disease. However, in certain experimental disease settings, the self-cannibalistic or, paradoxically, even the ..
  3. pmc The DNA-damage response in human biology and disease
    Stephen P Jackson
    The Gurdon Institute and Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge CB2 1QN, UK
    Nature 461:1071-8. 2009
    ..Our improving understanding of DNA-damage responses is providing new avenues for disease management.
  4. pmc Network medicine: a network-based approach to human disease
    Albert Laszlo Barabasi
    Center for Complex Networks Research and Department of Physics, Northeastern University, 110 Forsyth Street, 111 Dana Research Center, Boston, Massachusetts 02115, USA
    Nat Rev Genet 12:56-68. 2011
    Given the functional interdependencies between the molecular components in a human cell, a disease is rarely a consequence of an abnormality in a single gene, but reflects the perturbations of the complex intracellular and intercellular ..
  5. ncbi The Wnt signaling pathway in development and disease
    Catriona Y Logan
    Department of Developmental Biology, Beckman Center, Howard Hughes Medical Institute, Stanford University, Stanford, CA 94305, USA
    Annu Rev Cell Dev Biol 20:781-810. 2004
    ..The next few years are likely to see novel therapeutic reagents aimed at controlling Wnt signaling in order to alleviate these conditions...
  6. pmc Systematic localization of common disease-associated variation in regulatory DNA
    Matthew T Maurano
    Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
    Science 337:1190-5. 2012
    ..b>Disease-associated variants systematically perturb transcription factor recognition sequences, frequently alter allelic ..
  7. pmc Nitric oxide and peroxynitrite in health and disease
    Pal Pacher
    Section on Oxidative Stress Tissue Injury, Laboratory of Physiologic Studies, National Institutes of Health, National Institute of Alcohol Abuse and Alcoholism, Bethesda, Maryland, USA
    Physiol Rev 87:315-424. 2007
    ..Hence, novel pharmacological strategies aimed at removing peroxynitrite might represent powerful therapeutic tools in the future. Evidence supporting these novel roles of NO and peroxynitrite is presented in detail in this review...
  8. pmc Macrophage biology in development, homeostasis and disease
    Thomas A Wynn
    Immunopathogenesis Section, Program in Tissue Immunity and Repair and Laboratory of Parasitic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20877 8003, USA
    Nature 496:445-55. 2013
    ..homeostatic functions can be subverted by chronic insults, resulting in a causal association of macrophages with disease states...
  9. pmc Interactome networks and human disease
    Marc Vidal
    Center for Cancer Systems Biology and Department of Cancer Biology, Dana Farber Cancer Institute, Boston, MA 02215, USA
    Cell 144:986-98. 2011
    ..networks are important to consider in biology, how they can be mapped and integrated with each other, what global properties are starting to emerge from interactome network models, and how these properties may relate to human disease.
  10. pmc MicroRNAs in stress signaling and human disease
    Joshua T Mendell
    Department of Molecular Biology, UT Southwestern Medical Center, Dallas, TX 75390 9148, USA
    Cell 148:1172-87. 2012
    b>Disease is often the result of an aberrant or inadequate response to physiologic and pathophysiologic stress...
  11. ncbi Gut microbiota in health and disease
    Inna Sekirov
    Michael Smith Laboratories, Department of Microbiology and Immunology, The University of British Columbia, Vancouver, British Columbia, Canada
    Physiol Rev 90:859-904. 2010
    ..renewed interest in the structure and function of this "organ" has illuminated its central position in health and disease. The microbiota is intimately involved in numerous aspects of normal host physiology, from nutritional status to ..
  12. pmc miR2Disease: a manually curated database for microRNA deregulation in human disease
    Qinghua Jiang
    Center for Biomedical Informatics, School of Computer Science and Technology, Harbin Institute of Technology, Harbin, Heilongjiang, 150001, China
    Nucleic Acids Res 37:D98-104. 2009
    ..Around one-seventh of the microRNA-disease relationships represent the pathogenic roles of deregulated microRNA in human disease...
  13. pmc Missing heritability and strategies for finding the underlying causes of complex disease
    Evan E Eichler
    Department of Genome Sciences, University of Washington, Seattle, Washington 98195 5065, USA
    Nat Rev Genet 11:446-50. 2010
    Although recent genome-wide studies have provided valuable insights into the genetic basis of human disease, they have explained relatively little of the heritability of most complex traits, and the variants identified through these ..
  14. 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
    ..To date, 2239 genes have mutations causing disease, and 3770 diseases have a molecular basis...
  15. ncbi Epigenetic modifications and human disease
    Anna Portela
    Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute, Barcelona, Catalonia, Spain
    Nat Biotechnol 28:1057-68. 2010
    ..how aberrant placement of these epigenetic marks and mutations in the epigenetic machinery is involved in disease. Thus, a comprehensive understanding of epigenetic mechanisms, their interactions and alterations in health and ..
  16. pmc RNA and disease
    Thomas A Cooper
    Department of Pathology, Baylor College of Medicine, Houston, TX 77030, USA
    Cell 136:777-93. 2009
    ..of interactions among them, increasing the opportunity for exposure to mutations and misregulation that cause disease. The discovery of disease-causing mutations in RNAs is yielding a wealth of new therapeutic targets, and the ..
  17. ncbi Mesenchymal stem cells in health and disease
    Antonio Uccelli
    Department of Neurosciences, Ophthalmology and Genetics, University of Genoa, Italy
    Nat Rev Immunol 8:726-36. 2008
    ..This Review discusses the targets and mechanisms of MSC-mediated immunomodulation and the possible translation of MSCs to new therapeutic approaches...
  18. pmc The gut microbiota shapes intestinal immune responses during health and disease
    June L Round
    Division of Biology, California Institute of Technology, Pasadena, California 91125, USA
    Nat Rev Immunol 9:313-23. 2009
    ..result in dysregulation of adaptive immune cells, and this may underlie disorders such as inflammatory bowel disease. This raises the possibility that the mammalian immune system, which seems to be designed to control ..
  19. pmc Estimating missing heritability for disease from genome-wide association studies
    Sang Hong Lee
    Queensland Institute of Medical Research, 300 Herston Road, Herston, Queensland 4006, Australia
    Am J Hum Genet 88:294-305. 2011
    ..We apply the method to data from the Wellcome Trust Case Control Consortium and show that a substantial proportion of variation in liability for Crohn disease, bipolar disorder, and type I diabetes is tagged by common SNPs.
  20. ncbi Epigenetics in human disease and prospects for epigenetic therapy
    Gerda Egger
    Department of Biochemistry and Molecular Biology, USC Norris Comprehensive Cancer Center, Keck School of Medicine of the University of Southern California, 1441 Eastlake Avenue, Room 8302L, Los Angeles, California 90089 9181, USA
    Nature 429:457-63. 2004
    ..The study of human disease has focused on genetic mechanisms, but disruption of the balance of epigenetic networks can cause several major ..
  21. ncbi 'Mendelian randomization': can genetic epidemiology contribute to understanding environmental determinants of disease?
    George Davey Smith
    University of Bristol, Department of Social Medicine, Canynge Hall, Whiteladies Road, Bristol BS8 2PR, UK
    Int J Epidemiol 32:1-22. 2003
    Associations between modifiable exposures and disease seen in observational epidemiology are sometimes confounded and thus misleading, despite our best efforts to improve the design and analysis of studies...
  22. pmc Long noncoding RNAs: cellular address codes in development and disease
    Pedro J Batista
    Howard Hughes Medical Institute and Program in Epithelial Biology, Stanford University School of Medicine, Stanford, CA 94305, USA
    Cell 152:1298-307. 2013
    ..lncRNA-based mechanisms control cell fates during development, and their dysregulation underlies some human disorders caused by chromosomal deletions and translocations...
  23. pmc BRENDA in 2013: integrated reactions, kinetic data, enzyme function data, improved disease classification: new options and contents in BRENDA
    Ida Schomburg
    Technische Universitat Braunschweig, Dpt for Bioinformatics and Biochemistry, Langer Kamp 19 B, 38106 Braunschweig, Germany
    Nucleic Acids Res 41:D764-72. 2013
    ..The supplemental database DRENDA provides more than 910 000 new EC number-disease relations in more than 510 000 references from automatic search and a classification of enzyme-disease-related ..
  24. ncbi The ins and outs of the epithelial to mesenchymal transition in health and disease
    M Angela Nieto
    Instituto de Neurociencias, Consejo Superior de Investigaciones Cientificas Universidad Miguel Hernandez, San Juan de Alicante 03550, Spain
    Annu Rev Cell Dev Biol 27:347-76. 2011
    ..In addition, the EMT now constitutes a promising target for the treatment of cancer and organ-degenerative diseases...
  25. ncbi Stress and the brain: from adaptation to disease
    E Ron de Kloet
    Department of Medical Pharmacology, Leiden Amsterdam Center for Drug Research and Leiden University Medical Center, Gorlaeus Laboratories, Leiden University, PO Box 9502, 2300 RA Leiden, The Netherlands
    Nat Rev Neurosci 6:463-75. 2005
    ..individuals, an imbalance in this binary control mechanism can introduce a bias towards stress-related brain disease after adverse experiences...
  26. ncbi Advances in metal-induced oxidative stress and human disease
    Klaudia Jomova
    Department of Chemistry, Faculty of Natural Sciences, Constantine the Philosopher University, SK 949 74 Nitra, Slovakia
    Toxicology 283:65-87. 2011
    ..protein modification and other effects, all symptomatic for numerous diseases, involving cancer, cardiovascular disease, diabetes, atherosclerosis, neurological disorders (Alzheimer's disease, Parkinson's disease), chronic ..
  27. ncbi Copy number variation in human health, disease, and evolution
    Feng Zhang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Annu Rev Genomics Hum Genet 10:451-81. 2009
    ..However, CNV can also represent benign polymorphic variants. CNVs, especially gene duplication and exon shuffling, can be a predominant mechanism driving gene and genome evolution...
  28. ncbi Inflammasomes in health and disease
    Till Strowig
    Department of Immunobiology, Yale University, Connecticut 06520, USA
    Nature 481:278-86. 2012
    ..We review the functions of the different inflammasome complexes and discuss how aberrations in them are implicated in the pathogenesis of human diseases...
  29. pmc The genetics of mammalian circadian order and disorder: implications for physiology and disease
    Joseph S Takahashi
    Howard Hughes Medical Institute, Northwestern University, Evanston, Illinois 60208 3520, USA
    Nat Rev Genet 9:764-75. 2008
    ..processes, and disruptions of normal circadian biology therefore have the potential to influence a range of disease-related pathways...
  30. ncbi MicroRNAs in development and disease
    Danish Sayed
    Cardiovascular Research Institute, Department of Cell Biology and Molecular Medicine, University of Medicine and Dentistry of New Jersey, Newark, New Jersey 07103, USA
    Physiol Rev 91:827-87. 2011
    ..sites in their 3' untranslated region and, thus, are potentially regulated by these molecules in health and disease. This review will first briefly describe the discovery, structure, and mode of function of miRNAs in mammalian ..
  31. pmc The human disease network
    Kwang Il Goh
    Center for Complex Network Research and Department of Physics, University of Notre Dame, Notre Dame, IN 46556, USA
    Proc Natl Acad Sci U S A 104:8685-90. 2007
    A network of disorders and disease genes linked by known disorder-gene associations offers a platform to explore in a single graph-theoretic framework all known phenotype and disease gene associations, indicating the common genetic ..
  32. pmc Effect of in utero and early-life conditions on adult health and disease
    Peter D Gluckman
    Liggins Institute, University of Auckland, and National Research Centre for Growth and Development, Auckland, New Zealand
    N Engl J Med 359:61-73. 2008
  33. ncbi Mapping complex disease traits with global gene expression
    William Cookson
    National Heart and Lung Institute, Imperial College London, London SW3 6LY, UK
    Nat Rev Genet 10:184-94. 2009
    Variation in gene expression is an important mechanism underlying susceptibility to complex disease. The simultaneous genome-wide assay of gene expression and genetic variation allows the mapping of the genetic factors that underpin ..
  34. ncbi Genetic heterogeneity in human disease
    Jon McClellan
    Department of Psychiatry, University of Washington, Seattle, WA 98195 7720, USA
    Cell 141:210-7. 2010
    ..evidence suggests that rare mutations of severe effect are responsible for a substantial portion of complex human disease. Evolutionary forces generate vast genetic heterogeneity in human illness by introducing many new variants in ..
  35. pmc Disease Ontology: a backbone for disease semantic integration
    LYNN MARIE SCHRIML
    Department of Epidemiology and Public Health, Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD, USA
    Nucleic Acids Res 40:D940-6. 2012
    The Disease Ontology (DO) database (http://disease-ontology.org) represents a comprehensive knowledge base of 8043 inherited, developmental and acquired human diseases (DO version 3, revision 2510)...
  36. ncbi A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)
    Joanna Amberger
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21287, USA
    Hum Mutat 32:564-7. 2011
    ..This article focuses on the content of OMIM, the process and intent of disease classification and nosology, and anticipated improvements in our new Website (http://www.omim.org).
  37. pmc PhenomeNET: a whole-phenome approach to disease gene discovery
    Robert Hoehndorf
    Department of Genetics, University of Cambridge, Downing Street, Cambridge CB2 3EG, UK
    Nucleic Acids Res 39:e119. 2011
    Phenotypes are investigated in model organisms to understand and reveal the molecular mechanisms underlying disease. Phenotype ontologies were developed to capture and compare phenotypes within the context of a single species...
  38. pmc ToppGene Suite for gene list enrichment analysis and candidate gene prioritization
    Jing Chen
    Department of Environmental Health, University of Cincinnati, Cincinnati, OH, USA
    Nucleic Acids Res 37:W305-11. 2009
    ..using either functional annotations or network analysis and (iii) identification and prioritization of novel disease candidate genes in the interactome...
  39. pmc Influence of metabolism on epigenetics and disease
    William G Kaelin
    Department of Medical Oncology, Dana Farber Cancer Institute and Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02215, USA
    Cell 153:56-69. 2013
    ..IDH can result in cancer and, more broadly, for how alterations in metabolism and nutrition might contribute to disease. Here, we review literature pertinent to hypothetical connections between metabolic and epigenetic states in ..
  40. pmc GWASdb: a database for human genetic variants identified by genome-wide association studies
    Mulin Jun Li
    Department of Biochemistry, The University of Hong Kong, Hong Kong SAR, China
    Nucleic Acids Res 40:D1047-54. 2012
    ..However, many true disease susceptibility loci have relatively moderate P values and are not included in these databases...
  41. 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...
  42. ncbi Biomarkers of oxidative damage in human disease
    Isabella Dalle-Donne
    Department of Biology, University of Milan, Milan, Italy
    Clin Chem 52:601-23. 2006
    ..To be a predictor of disease, a biomarker must be validated...
  43. ncbi Non-coding RNAs: regulators of disease
    Ryan J Taft
    Institute for Molecular Bioscience, University of Queensland, Brisbane QLD 4072, Australia
    J Pathol 220:126-39. 2010
    ..mechanisms by which ncRNAs facilitate normal development and physiology and, when dysfunctional, underpin disease. We also discuss evidence that intergenic regions associated with complex diseases express ncRNAs, as well as the ..
  44. ncbi Understanding the contribution of synonymous mutations to human disease
    Zuben E Sauna
    Laboratory of Hemostasis, Division of Hematology, Center for Biologics Evaluation and Research, Food and Drug Administration, 29 Lincoln Drive, Bethesda, Maryland 20892, USA
    Nat Rev Genet 12:683-91. 2011
    ..The recent increase in knowledge about the association of genetic variants with disease, particularly through genome-wide association studies, has revealed a substantial contribution of synonymous SNPs ..
  45. pmc Identification of seven loci affecting mean telomere length and their association with disease
    Veryan Codd
    Department of Cardiovascular Sciences, University of Leicester, Leicester, UK
    Nat Genet 45:422-7, 427e1-2. 2013
    ..Moreover, a genetic risk score analysis combining lead variants at all 7 loci in 22,233 coronary artery disease cases and 64,762 controls showed an association of the alleles associated with shorter LTL with increased risk of ..
  46. ncbi Expandable DNA repeats and human disease
    Sergei M Mirkin
    Department of Biology, Tufts University, Medford, Massachusetts 02155, USA
    Nature 447:932-40. 2007
    ..The presence of expanded DNA repeats alters gene expression in human cells, leading to disease. Surprisingly, many of these debilitating diseases are caused by repeat expansions in the non-coding regions of ..
  47. pmc The Comparative Toxicogenomics Database: update 2011
    Allan Peter Davis
    Department of Bioinformatics, The Mount Desert Island Biological Laboratory, Salisbury Cove, ME 04672, USA
    Nucleic Acids Res 39:D1067-72. 2011
    ..Biocurators at CTD manually curate a triad of chemical-gene, chemical-disease and gene-disease relationships from the literature...
  48. ncbi Uncovering the roles of rare variants in common disease through whole-genome sequencing
    Elizabeth T Cirulli
    Center for Human Genome Variation, Duke University Medical School, Durham, North Carolina 27708, USA
    Nat Rev Genet 11:415-25. 2010
    ..Here, we evaluate the evidence for an important role of rare gene variants of major effect in common diseases and outline discovery strategies for their identification...
  49. pmc Pre-mRNA splicing in disease and therapeutics
    Ravi K Singh
    Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX 77030, USA
    Trends Mol Med 18:472-82. 2012
    ..Mutations in cis elements cause missplicing of genes that alter gene function and contribute to disease pathology...
  50. ncbi Adverse childhood experiences, allostasis, allostatic load, and age-related disease
    Andrea Danese
    MRC Social, Genetic and Developmental Psychiatry Centre, and Department of Child and Adolescent Psychiatry, Institute of Psychiatry, King s College London, London, UK
    Physiol Behav 106:29-39. 2012
    ..Their chronic activation can lead to progressive wear and tear, or allostatic load and overload, and, thus, can exert long-term effects on biological aging and health...
  51. pmc Mitochondrial DNA mutations in disease and aging
    Chan Bae Park
    Institute for Medical Sciences, Ajou University School of Medicine, Suwon 443 721, Korea
    J Cell Biol 193:809-18. 2011
    ..of mtDNA cause a variety of human mitochondrial diseases and are also heavily implicated in age-associated disease and aging...
  52. ncbi An ecological and evolutionary perspective on human-microbe mutualism and disease
    Les Dethlefsen
    Department of Microbiology and Immunology, Stanford University, Stanford, California 94305, USA
    Nature 449:811-8. 2007
    ..are essential for human health, and ecological or genetic changes that uncouple this shared fate can result in disease. In this way, looking to ecological and evolutionary principles might provide new strategies for restoring and ..
  53. pmc PolymiRTS Database 2.0: linking polymorphisms in microRNA target sites with human diseases and complex traits
    Jesse D Ziebarth
    Department of Microbiology, Immunology and Biochemistry, Center for Integrative and Translational Genomics, University of Tennessee Health Science Center, Memphis, TN 38163, USA
    Nucleic Acids Res 40:D216-21. 2012
    ..A large number of newly identified microRNAs and SNPs, recently published mouse phenotypes, and human and mouse eQTLs have also been integrated into the database. The PolymiRTS database is available at http://compbio.uthsc.edu/miRSNP/...
  54. pmc Sex-specific genetic architecture of human disease
    Carole Ober
    Department of Human Genetics, 920 East 58th Street, The University of Chicago, Chicago, Illinois 60637, USA
    Nat Rev Genet 9:911-22. 2008
    ..sex-specific genetic architecture also influences human phenotypes, including reproductive, physiological and disease traits...
  55. 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
    ..Despite the recent interest in this problem, however, there is little understanding of the relative benefits and drawbacks underlying the proposed techniques...
  56. pmc Fractal dynamics in physiology: alterations with disease and aging
    Ary L Goldberger
    Cardiovascular Division and Margret and H A Rey Laboratory for Nonlinear Dynamics in Medicine, Department of Medicine, Beth Israel Deaconess Medical Center Harvard Medical School, Boston, MA 02215, USA
    Proc Natl Acad Sci U S A 99:2466-72. 2002
    ..Similar approaches show promise in assessing other regulatory systems, such as human gait control in health and disease. Elucidating the fractal and nonlinear mechanisms involved in physiologic control and complex signaling networks ..
  57. ncbi Burden of disease and injury in Aboriginal and Torres Strait Islander Peoples: the Indigenous health gap
    Theo Vos
    School of Population Health, University of Queensland, Brisbane, Australia
    Int J Epidemiol 38:470-7. 2009
    ..Disparities in health status between Aboriginal and Torres Strait Islander peoples and the total Australian population have been documented in a fragmentary manner using disparate health outcome measures...
  58. pmc MiRNA-miRNA synergistic network: construction via co-regulating functional modules and disease miRNA topological features
    Juan Xu
    College of Bioinformatics Science and Technology, Harbin Medical University, Harbin 150081, China
    Nucleic Acids Res 39:825-36. 2011
    ..to identify miRNA synergism and thereby further determine miRNA functions at a system-wide level and investigate disease miRNA features in the miRNA-miRNA synergistic network from a new view...
  59. ncbi Network-based methods for human disease gene prediction
    Xiujuan Wang
    Department of Biological Statistics and Computational Biology and Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, NY 14850, USA
    Brief Funct Genomics 10:280-93. 2011
    Despite the considerable progress in disease gene discovery, we are far from uncovering the underlying cellular mechanisms of diseases since complex traits, even many Mendelian diseases, cannot be explained by simple genotype-phenotype ..
  60. pmc Epithelial-mesenchymal transitions: the importance of changing cell state in development and disease
    Hervé Acloque
    Instituto de Neurociencias CSIC UMH, San Juan de Alicante, Spain
    J Clin Invest 119:1438-49. 2009
    ..Cells undergo EMT to migrate and colonize distant territories. Not surprisingly, this is also the mechanism used by cancer cells to disperse throughout the body...
  61. ncbi X-inactivation, imprinting, and long noncoding RNAs in health and disease
    Jeannie T Lee
    Howard Hughes Medical Institute, Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA
    Cell 152:1308-23. 2013
    X chromosome inactivation and genomic imprinting are classic epigenetic processes that cause disease when not appropriately regulated in mammals...
  62. pmc Transcriptional regulation and its misregulation in disease
    Tong Ihn Lee
    Whitehead Institute for Biomedical Research, Cambridge, MA 02142, USA
    Cell 152:1237-51. 2013
    ..Here, we review recent advances in our understanding of transcriptional regulation and discuss how these have provided new insights into transcriptional misregulation in disease.
  63. pmc Viral perturbations of host networks reflect disease etiology
    Natali Gulbahce
    Center for Complex Networks Research CCNR and Department of Physics, Northeastern University, Boston, Massachusetts, United States of America
    PLoS Comput Biol 8:e1002531. 2012
    Many human diseases, arising from mutations of disease susceptibility genes (genetic diseases), are also associated with viral infections (virally implicated diseases), either in a directly causal manner or by indirect associations...
  64. pmc Protein S-nitrosylation in health and disease: a current perspective
    Matthew W Foster
    Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA
    Trends Mol Med 15:391-404. 2009
    ..exogenous mediators of protein S-nitrosylation or denitrosylation can substantially affect the development or progression of disease, potential therapeutic agents that modulate S-nitrosylation could well have broad clinical utility.
  65. ncbi Invasions by insect vectors of human disease
    L Philip Lounibos
    Florida Medical Entomology Laboratory, University of Florida, Vero Beach, Florida 32962, USA
    Annu Rev Entomol 47:233-66. 2002
    ..Propagule pressure, previous success, and adaptations to human habits appear to favor successful invasions by vectors...
  66. ncbi The mitochondrial permeability transition pore and its involvement in cell death and in disease pathogenesis
    Andrea Rasola
    CNR Institute of Neuroscience and Department of Biomedical Sciences, University of Padova, Viale Giuseppe Colombo 3, I 35121 Padua, Italy
    Apoptosis 12:815-33. 2007
    ..The recent successful use of PTP desensitizers in several disease paradigms leaves little doubt about its relevance in pathophysiology; and emerging findings that link the PTP to ..
  67. ncbi Regulation of matrix metalloproteinase activity in health and disease
    Elin Hadler-Olsen
    Department of Medical Biology, Faculty of Health Sciences, University of Tromsø, Norway
    FEBS J 278:28-45. 2011
    ..Knowledge about regulation of MMP activity is essential for understanding various physiological processes and pathogenesis of diseases, as well as for the development of new MMP targeting drugs...
  68. pmc HAPGEN2: simulation of multiple disease SNPs
    Zhan Su
    Wellcome Trust Centre for Human Genetics, Oxford OX3 7BN, UK
    Bioinformatics 27:2304-5. 2011
    ..However, the inability of current methods to simulate multiple nearby disease SNPs on the same chromosome can limit their application.
  69. pmc Exploiting drug-disease relationships for computational drug repositioning
    Joel T Dudley
    Stanford University, Stanford, CA, USA
    Brief Bioinform 12:303-11. 2011
    ..can be classified in two axes: drug based, where discovery initiates from the chemical perspective, or disease based, where discovery initiates from the clinical perspective of disease or its pathology...
  70. pmc Prenatal environmental exposures, epigenetics, and disease
    Frederica Perera
    Columbia Center for Children s Environmental Health, Mailman School of Public Health, Columbia University, New York, NY, United States
    Reprod Toxicol 31:363-73. 2011
    ..dysregulates the fetal epigenome, with potential consequences for subsequent developmental disorders and disease manifesting in childhood, over the lifecourse, or even transgenerationally...
  71. ncbi MicroRNA target site polymorphisms and human disease
    Praveen Sethupathy
    National Human Genome Research Institute, Bethesda, MD 20892 8004, USA
    Trends Genet 24:489-97. 2008
    ..genetic variants in miRNA target sites that are claimed to be associated with disorders ranging from Parkinson's disease to cancer...
  72. pmc Disease-associated mutations that alter the RNA structural ensemble
    Matthew Halvorsen
    Biomedical Sciences Department, University at Albany, Albany, New York, USA
    PLoS Genet 6:e1001074. 2010
    Genome-wide association studies (GWAS) often identify disease-associated mutations in intergenic and non-coding regions of the genome...
  73. pmc An expanded Oct4 interaction network: implications for stem cell biology, development, and disease
    Mercedes Pardo
    Proteomic Mass Spectrometry, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, UK
    Cell Stem Cell 6:382-95. 2010
    ..The Oct4 interactome provides a resource for dissecting mechanisms of Oct4 function, enlightening the basis of pluripotency and development, and identifying potential additional reprogramming factors...
  74. pmc Genetic risk prediction in complex disease
    Luke Jostins
    Statistical and Computational Genetics, Wellcome Trust Sanger Institute, Cambs, UK
    Hum Mol Genet 20:R182-8. 2011
    Attempting to classify patients into high or low risk for disease onset or outcomes is one of the cornerstones of epidemiology...
  75. ncbi Regulation of caspases in the nervous system implications for functions in health and disease
    Carol M Troy
    Department of Pathology and Cell Biology, Taub Center for the Study of Alzheimer s Disease and the Aging Brain, Columbia University College of Physicians and Surgeons, New York, USA
    Prog Mol Biol Transl Sci 99:265-305. 2011
    ..the current tools for examining caspases, and functions of caspases in the nervous system in health and in disease. Alzheimer's Disease, the most common neurodegenerative disorder, and cerebral ischemia, the most common cause of ..
  76. pmc Trophic macrophages in development and disease
    Jeffrey W Pollard
    Department of Developmental and Molecular Biology, Center for the Study of Reproductive Biology and Women s Health, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Chanin 607, Bronx, New York 10461, USA
    Nat Rev Immunol 9:259-70. 2009
    ..For example, macrophages enhance tumour progression and metastasis by affecting tumour-cell migration and invasion, as well as angiogenesis...
  77. pmc Interleukin-17 and its target genes: mechanisms of interleukin-17 function in disease
    Reiko M Onishi
    Department of Medicine, Division of Rheumatology and Clinical Immunology, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Immunology 129:311-21. 2010
    ..Whereas many IL-17 target genes are common to different disease states, in some cases the effects of IL-17 differ depending on the target cell, infectious site or pathogen...
  78. pmc Human disease-drug network based on genomic expression profiles
    Guanghui Hu
    Computational Biology, GlaxoSmithKline, King of Prussia, Pennsylvania, United States of America
    PLoS ONE 4:e6536. 2009
    ....
  79. pmc Genetic mapping in human disease
    David Altshuler
    Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA
    Science 322:881-8. 2008
    ....
  80. pmc Epigenetic transgenerational actions of environmental factors in disease etiology
    Michael K Skinner
    Center for Reproductive Biology, School of Molecular Biosciences, Washington State University, Pullman, WA 99164 4236, USA
    Trends Endocrinol Metab 21:214-22. 2010
    The ability of environmental factors to promote a phenotype or disease state not only in the individual exposed but also in subsequent progeny for successive generations is termed transgenerational inheritance...
  81. ncbi Biological robustness
    Hiroaki Kitano
    Sony Computer Science Laboratories, Inc, 3 14 13 Higashi Gotanda, Shinagawa, Tokyo 141 0022, Japan
    Nat Rev Genet 5:826-37. 2004
    ..Insights into inherent properties of robust systems will provide us with a better understanding of complex diseases and a guiding principle for therapy design...
  82. ncbi Programmed necrosis from molecules to health and disease
    Lorenzo Galluzzi
    INSERM, Villejuif, France
    Int Rev Cell Mol Biol 289:1-35. 2011
    ..We then provide evidence suggesting that necroptosis represents an ancient and evolutionarily conserved cell death modality that may be targeted for drug development...
  83. ncbi Regulation of HSF1 function in the heat stress response: implications in aging and disease
    Julius Anckar
    Department of Biosciences, Abo Akademi University, BioCity, 20520 Turku, Finland
    Annu Rev Biochem 80:1089-115. 2011
    ..Here, we review the established role of HSF1 in counteracting cell stress and prospect the role of HSF1 as a regulator of disease states and aging.
  84. pmc From disease ontology to disease-ontology lite: statistical methods to adapt a general-purpose ontology for the test of gene-ontology associations
    Pan Du
    The Biomedical Informatics Center, Northwestern University, Chicago, IL 60611, USA
    Bioinformatics 25:i63-8. 2009
    ..We propose statistical methods to adapt the general purpose, OBO Foundry Disease Ontology (DO) for the identification of gene-disease associations...
  85. ncbi Covalent modifications of histones during development and disease pathogenesis
    Sukesh R Bhaumik
    Department of Biochemistry and Molecular Biology, Southern Illinois University School of Medicine, Carbondale, Illinois 62901, USA
    Nat Struct Mol Biol 14:1008-16. 2007
    ..We also discuss how perturbation of the activity of this enzymatic machinery can cause developmental defects and disease.
  86. ncbi Aging and disease: connections to sirtuins
    Gizem Donmez
    Paul F Glenn Laboratory and Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139, USA
    Aging Cell 9:285-90. 2010
    ..Most relevant to the amelioration of disease, the SIR2 ortholog SIRT1 has been shown to deacetylate many important transcription factors to exert an ..
  87. ncbi Living with the past: evolution, development, and patterns of disease
    Peter D Gluckman
    Liggins Institute, University of Auckland and National Research Centre for Growth and Development, 2 6 Park Avenue, Grafton, Private Bag 92019, Auckland, New Zealand
    Science 305:1733-6. 2004
    ..physiology provides support for this idea and suggests that environmental processes influencing the propensity to disease in adulthood operate during the periconceptual, fetal, and infant phases of life...
  88. ncbi Alternative splicing and disease
    Jamal Tazi
    University of Montpellier II, Institute of Molecular Genetics, Centre Nationale de Recherche Scientifique, 1919 Route de Mende, France
    Biochim Biophys Acta 1792:14-26. 2009
    ..genome and an increasing number of examples illustrates that the selection of wrong splice sites causes human disease. A fine-tuned balance of factors regulates splice site selection...
  89. pmc Disease-aging network reveals significant roles of aging genes in connecting genetic diseases
    Jiguang Wang
    Academy of Mathematics and Systems Science, Chinese Academy of Sciences, Beijing, China
    PLoS Comput Biol 5:e1000521. 2009
    ..In this paper, we construct a human disease-aging network to study the relationship among aging genes and genetic disease genes...
  90. pmc Fibrocytes in health and disease
    Erica L Herzog
    Department of Internal Medicine, Section of Pulmonary and Critical Care Medicine, Yale University School of Medicine, New Haven, CT 06520 8057, USA
    Exp Hematol 38:548-56. 2010
    ..obtained from the clinical setting suggests that the enumeration of circulating fibrocytes may be a biomarker for disease progression in chronic lung diseases including asthma and pulmonary fibrosis...
  91. ncbi Knowledge-based computational mutagenesis for predicting the disease potential of human non-synonymous single nucleotide polymorphisms
    Majid Masso
    Laboratory for Structural Bioinformatics, Department of Bioinformatics and Computational Biology, George Mason University, 10900 University Blvd MS 5B3, Manassas, VA 20110, USA
    J Theor Biol 266:560-8. 2010
    ..SNP (nsSNP), leading to a single residue replacement in the translated protein product, is neutral or disease-related...
  92. pmc MicroRNAs 1, 133, and 206: critical factors of skeletal and cardiac muscle development, function, and disease
    W H Davin Townley-Tilson
    University of North Carolina, Carolina Cardiovascular Biology Center, Department of Cell and Developmental Biology, Chapel Hill, NC 27599, USA
    Int J Biochem Cell Biol 42:1252-5. 2010
    ..Many studies demonstrate that these miRNAs are necessary for proper skeletal and cardiac muscle development and function, and have a profound influence on multiple myopathies, such as hypertrophy, dystrophy, and conduction defects...
  93. pmc Polyamine catabolism and disease
    Robert A Casero
    Department of Oncology, Johns Hopkins University School of Medicine and the Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, MD 21231, USA
    Biochem J 421:323-38. 2009
    ..constitutively expressed APAO (N1-acetylpolyamine oxidase) appear to play critical roles in many normal and disease processes...
  94. ncbi Calcium pumps in health and disease
    Marisa Brini
    Department of Biochemistry, University of Padova, Padova, Italy
    Physiol Rev 89:1341-78. 2009
    ..They do not bring cells to immediate death but seriously compromise their normal functioning...
  95. pmc Genetic and environmental pathways to complex diseases
    Julia M Gohlke
    Environmental Systems Biology Group, Laboratory of Molecular Toxicology, National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA
    BMC Syst Biol 3:46. 2009
    ....
  96. pmc Network-based elucidation of human disease similarities reveals common functional modules enriched for pluripotent drug targets
    Silpa Suthram
    Stanford Center for Biomedical Informatics Research, Stanford University, Stanford, California, USA
    PLoS Comput Biol 6:e1000662. 2010
    Current work in elucidating relationships between diseases has largely been based on pre-existing knowledge of disease genes. Consequently, these studies are limited in their discovery of new and unknown disease relationships...
  97. pmc PhenomiR: a knowledgebase for microRNA expression in diseases and biological processes
    Andreas Ruepp
    Institute for Bioinformatics and Systems Biology MIPS, Helmholtz Center Munich German Research Center for Environmental Health GmbH, Ingolstadter Landstrasse 1, D 85764 Neuherberg, Germany
    Genome Biol 11:R6. 2010
    ..Using the PhenomiR dataset, we could demonstrate that, depending on disease type, independent information from cell culture studies contrasts with conclusions drawn from patient studies.
  98. pmc The impact of cellular networks on disease comorbidity
    Juyong Park
    Department of Physics, Biology, and Computer Science, Center for Complex Network Research, Northeastern University, Boston, MA 02115, USA
    Mol Syst Biol 5:262. 2009
    The impact of disease-causing defects is often not limited to the products of a mutated gene but, thanks to interactions between the molecular components, may also affect other cellular functions, resulting in potential comorbidity ..
  99. ncbi Analysis of biological processes and diseases using text mining approaches
    Martin Krallinger
    Centro Nacional de Investigaciones Oncologicas, Madrid, Spain
    Methods Mol Biol 593:341-82. 2010
    ..We provide an overview of disease-centric and gene-centric literature mining methods for linking genes to phenotypic and genotypic aspects...
  100. ncbi microRNA: human disease and development
    Virendra S Gomase
    Department of Bioinformatics, Padmashree Dr D Y Patil University, Belapur, Navi, Mumbai MS, India
    Int J Bioinform Res Appl 5:479-500. 2009
    ..miRNAs are found to be involved in the regulation of immunity, including the development and differentiation of immune cells, antibody production and the inflammatory mediator release...
  101. ncbi Immunology and zebrafish: spawning new models of human disease
    Nathan D Meeker
    The Department of Pediatrics and the Huntsman Cancer Institute, University of Utah, Suite 4265, 2000 Circle of Hope, Salt Lake City, UT 84112, USA
    Dev Comp Immunol 32:745-57. 2008
    The zebrafish has emerged as a powerful new vertebrate model of human disease. Initially prominent in developmental biology, the zebrafish has now been adopted into varied fields of study including immunology...

Research Grants73

  1. INTRAUTERINE ASPHYXIAL ENCEPHALOPATHY
    Peter Gluckman; Fiscal Year: 2001
    ..By further elucidating the pathogenesis of prenatal and perinatal asphyxial encephalopathy these studies will provide important information towards improving perinatal diagnosis, monitoring and intervention. ..
  2. GPx-3, Vascular Oxidant Stress, and Thrombosis
    Joseph Loscalzo; Fiscal Year: 2006
    ..abstract_text> ..
  3. HOMOCYST(E)INE, OXIDATIVE STRESS, AND NITRIC OXIDE
    Joseph Loscalzo; Fiscal Year: 2004
    ..With these studies, we hope to gain insight into the molecular mechanisms of homocyst(e)ine-induced endothelial dysfunction and potential therapies for this common metabolic abnormality. ..
  4. QUESTIONS ABOUT BEREAVEMENT: ANSWERS FROM THE CLOC STUDY
    Randolph Nesse; Fiscal Year: 2001
    ..We anticipate that this effort to make the data available to other researchers in a form that they can use will result in significant, and likely unforeseen, advances in our understanding of bereavement. ..
  5. MPO and NO signaling in neointima formation
    Chunxiang Zhang; Fiscal Year: 2010
    ..and restenotic lesions and that elevated levels of MPO are associated with the presence of coronary heart disease. We have recently shown that MPO has a strong negative effect on nitric oxide (NO) signaling both by direct NO ..
  6. Metabolism of Carcinogens and Drugs by Human P450s
    F Guengerich; Fiscal Year: 2005
    ..Successful completion of these collective studies should provide better understanding of the ways in which human P450s catalyze oxidation of carcinogens and drugs and the significance of variations in these enzymes. ..
  7. Bone-Sparing by Ca Salts With & Without Extra Phosphorus
    Robert Heaney; Fiscal Year: 2008
    ..1 Description, ..
  8. Race and Public Communication about Human Variation
    Celeste Condit; Fiscal Year: 2003
    ..existing lay understandings of the relationships among genetics, race, and human characteristics (including disease)...
  9. fMRI Activity During the Visual Control of Force
    DAVID VAILLANCOURT; Fiscal Year: 2004
    ..g. rehabilitation, pharmacology) on the physiology of aging and disease. The specific purpose of this proposal is to examine the neural systems underlying the spatial and temporal ..
  10. Lay and Expert Models of Gene-Environment Interaction
    Celeste Condit; Fiscal Year: 2008
    ..referred to as "environmental" factors) in relationship to common complex diseases (adult onset diabetes, "heart" disease, depression, and lung cancer)...
  11. Gene Polymorphisms and Kidney Transplant Outcome
    William Oetting; Fiscal Year: 2005
    ..abstract_text> ..
  12. BONY EFFECTS OF TRANSIENT NONSKELETAL ILLNESS
    Robert Heaney; Fiscal Year: 2001
    ....
  13. Biobehavioral-Cytokine Interactions in Ovarian Cancer
    Susan Lutgendorf; Fiscal Year: 2007
    ..of cytokines and psychosocial factors will be taken pre-surgery and at intervals up to 9 months post-surgery; disease progression will be assessed until 18 months post-surgery...
  14. Genomics and Proteomics of Oral Precancer Progression
    David Wong; Fiscal Year: 2009
    ..and proteomic alterations which serves to advance the pathogenesis as well as valuable biomarkers of this disease. Patient resources are in place to permit genomic, transcriptional and proteomic studies including longitudinal ..
  15. Mutagenic analysis of LPS responses
    Bruce Beutler; Fiscal Year: 2006
    ..In the case of mutations that abolish LPS tolerance, we will attempt to determine the net impact on host resistance to infection. ..
  16. Induction of Immunological Tolerance for Gene Therapy
    JAMES ZIMRING; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable] [unreadable] [unreadable]..
  17. Evolution of Disease: Current patterns and future trends
    Matthew Keeling; Fiscal Year: 2006
    The main aims of the project are to understand current disease behavior in terms of evolutionary forces, and consequently predict plausible future changes, using complex computer simulation models supported by detailed experimental ..
  18. Role of PACS-1 in HIV-1 Immunoevasion
    Gary Thomas; Fiscal Year: 2007
    ..Elucidating how this Nef-induced signaling pathway is used by HIV-1 will provide better understanding of the biochemical basis underlying HIV-1 pathogenesis and will identify new targets to combat this deadly virus. ..
  19. Effects of Intentional Weight Loss on Mortality Rate
    David Allison; Fiscal Year: 2008
    DESCRIPTION (provided by applicant): Obesity is associated with diseases such as diabetes and heart disease and with decreased longevity...
  20. RECEPTOR INTERACTION WITH GTP REGULATORY PROTEINS
    Gary Johnson; Fiscal Year: 2008
    ..of tissue injury at inflammatory sites in diseases includingrespiratory distress syndrome and inflammatory bowel disease. Neutrophils migrate to an inflammatory site in response to chemokines such as IL8...
  21. BioSense Initiative to Improve Early Outbreak Detection
    Howard Burkom; Fiscal Year: 2007
    ..abstract_text> ..
  22. Human Salivary Proteome
    David Wong; Fiscal Year: 2007
    ..Our consortium is a multidisciplinary team of biologists, chemists, proteomics leaderships, engineers, computer scientists collectively focusing on the goal to create the periodic table of salivary secretory proteins. ..
  23. Laser Capture Microscopy and 2D-DIGE: Cancer Proteomics
    William Dynan; Fiscal Year: 2007
    ..In the next phase, broader clinical utility will be demonstrated using a larger sample set. Changes in the pattern of protein expression will be identified. These changes can serve as clinically useful markers of tumor progression. ..
  24. Human variation in retrotransposon activity
    HAIG KAZAZIAN; Fiscal Year: 2008
    ..Using this data, we will determine the extent of variation in L1 retrotransposition capability that exists among different individuals and geographic groups. ..
  25. A Mitochondrial Etiology of Autism
    Douglas C Wallace; Fiscal Year: 2010
    ..Since a partial mitochondrial oxidative phosphorylation (OXPHOS) defect is sufficient to generate neurological disease, these results suggest that mitochondrial dysfunction could account for a significant proportion of ASD...
  26. ANALYSIS OF BECLIN 1 IN AUTOPHAGY AND TUMOR SUPPRESSION
    Beth Levine; Fiscal Year: 2009
    ..abstract_text> ..
  27. Methamphetamine, Stress and SIV: Effects at Blood-Brain Barrier and Lymph Nodes
    John P Capitanio; Fiscal Year: 2010
    ..alterations in innervation patterns, Type I interferon gene expression, and SIV replication in lymph nodes, and disease-related indicators in blood;2) to examine the role played by methamphetamine and stress in altering permeability ..
  28. Dissecting complex regulation by C. elegans DAF-16
    Heidi A Tissenbaum; Fiscal Year: 2010
    ..The high degree of conservation between worms and mammals in this pathway indicate that these studies will also undoubtedly have implications for our understanding of the mammalian aging process. ..
  29. MECHANISM AND INSTABILITY OF SEGMENTAL DUPLICATIONS
    Evan E Eichler; Fiscal Year: 2010
    ..Despite the association of these regions with recurrent genetic disease, the underlying mechanism by which this peculiar architecture has evolved and become so prevalent in the human ..
  30. STRESSOR CONTROLLABILITY, DRUGS OF ABUSE, AND SEROTONIN
    Steven F Maier; Fiscal Year: 2010
    ....
  31. Salivary Proteomic & Genomic Biomarkers for Primary Sjogren's Syndrome
    David T Wong; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Sjogren's Syndrome (SS) is a progressive autoimmune disease affecting about 4 million Americans...
  32. Membrane Targeting of Calcium-Pumping ATPase
    EMANUEL ERNST STREHLER; Fiscal Year: 2010
    ..Understanding these mechanisms will help us understand and fight diseases caused by defects in local calcium regulation, such as hearing loss and neuronal degeneration in aging. ..
  33. Hormonal signals, genome integrity and longevity
    Jan Vijg; Fiscal Year: 2009
    ..This will provide basic insight into genome deterioration in somatic cells and its possible contribution to the efferent pathways by which insulin signaling accelerates aging. ..
  34. RESEARCH TRAINING IN THE EPIDEMIOLOGY OF AGING
    Stanislav Kasl; Fiscal Year: 2008
    ..of training consists of: a) didactic instruction in the coursework which is at the center of the PhD in (chronic disease) epidemiology program at Yale, and b) the closely supervised research experience in the context of existing ..
  35. STRUCTURE AND FUNCTION OF HIV GAG PROTEIN
    MARILYN RESH; Fiscal Year: 2009
    ..Multicolor imaging with site-specific fluorescein derivatives (FLASH and ReAsH) will be used to determine the order in which Gag assembly sites are formed and maintained in the cell. ..
  36. C. Elegans Model for Neurodegenerative Diseases of Aging
    Richard I Morimoto; Fiscal Year: 2010
    ..of damaged proteins has become increasingly recognized as a prominent contributor to aging and age-associated disease. We have shown that chronic expression of damaged proteins in response to stress and aging has devastating ..
  37. Photoperiod, Melatonin, and Sickness Behaviors
    Randy Nelson; Fiscal Year: 2006
    ..6) To determine if photoperiod influences the extent to which stress compromises immune function. Taken together, these studies may reveal novel therapeutic uses of melatonin on fever and anorexia. ..
  38. Changing Culture: Research/Scholarly Curriculum Track
    Anthony Iacopino; Fiscal Year: 2006
    ..abstract_text> ..
  39. UNIVERSITY OF SOUTH FLORIDA MOUSE BARRIER FACILITY
    M Phillips; Fiscal Year: 2004
    ..6 to 1. The net benefit of the movable equipment requested would accrue to nationally recognized life science research directed by scientists from eight neighboring institutions that will use this new regional resource. ..
  40. PATHWAYS TO ALCOHOLISM THROUGH PSYCHOPATHOLOGY
    Heping Zhang; Fiscal Year: 2001
    ..They further state that identifying these pathways will ultimately assist in the development of an empirical basis for the primary prevention of secondary alcoholism. ..
  41. American Society for Neurochemistry Conference
    Robert Yu; Fiscal Year: 2003
    ..been selected so as to increase our understanding of the cellular and molecular basis of neural development and disease. Several of the sessions contain elements from more than one theme, and such intellectual overlaps enhance ..
  42. OXYGEN INDUCED DNA DAMAGE, MUTATIONS AND CANCER
    LAWRENCE LOEB; Fiscal Year: 2003
    ..Even a modest, 2-fold, decrease could increase the latent period before disease is manifested clinically and thus reduce cancer mortality.
  43. Conference--Molecular & Cellular Bioenergetics
    Michael Forgac; Fiscal Year: 2003
    ..In addition, this meeting has also expanded into cellular bioenergetics and disease, with presentations in 2003 on the function and regulation of V-ATPases, the mechanism of assembly and targeting ..
  44. ENVIRONMENTAL INFLUENCES ON BRAIN PLASTICITY
    David Crews; Fiscal Year: 2002
    ..The final category of experiments is particularly important as it will discern whether the incubation temperature effects are direct or indirect. ..
  45. IGF-I LEVELS, IGF-I GENOTYPE, AND PROSTATE CANCER
    Noel Weiss; Fiscal Year: 2002
    ..abstract_text> ..
  46. LATENT SEMANTIC INDEXING IN SUPPORT OF DATA RETRIEVAL
    CHRISTOPHER CHUTE; Fiscal Year: 2001
    ..We commit these activities to remain compliant with emerging standards for medical concept representation arising from the Canon efforts and the standardization processes at ANSI-HISPP, CEN TC251 and the CPRI initiatives. ..
  47. NIH--EGF/NEU RECEPTOR SIGNAL TRANSDUCTION
    Gary Johnson; Fiscal Year: 2001
    ..4) Define the role of Cbl in ErbB1 signaling and the mediation of survival. ..
  48. DELAYING MITOCHONDRIAL DECAY WITH CARNITINE AND LIPOATE
    Bruce Ames; Fiscal Year: 2001
    ..It has recently been administered in clinical trials as a treatment for Alzheimer's disease. The proposed studies will employ ALCAR and a second mitochondrial metabolite-the antioxidant lipoic acid-as ..
  49. GENETIC EPIDEMIOLOGY OF HYPERTENSION: GENOMIC CORES
    Aravinda Chakravarti; Fiscal Year: 2004
    ..The resulting synthesis of ideas and amassed data permits rigorous hypothesis testing not otherwise possible and will hasten understanding of the previously elusive genetic variation responsible for disease risk.
  50. Mitochondrial Metabiolites to Treat Parkinson's Disease
    Bruce Ames; Fiscal Year: 2005
    Mitochondrial decay due to oxidation is an important contributor to Parkinson's disease (PD) and other neurodegenerative diseases of aging...
  51. Selective depletion of alloreactive T cells in BMT
    JAMES ZIMRING; Fiscal Year: 2005
    ..However, the T cell depletion (TCD) of the donor graft that is required to prevent graft-vs.-host disease (GvHD) also decreases immunity to microbial pathogens, leaving the BMT recipient susceptible to opportunistic ..
  52. UCLA Collaborative Oral Fluid Diagnostic Research Center
    David Wong; Fiscal Year: 2005
    The ability to monitor health status, disease onset and progression, and treatment outcome monitoring through non-invasive means is a most desirable goal in the health care promotion and delivery...
  53. NIAMS Muiltidisciplinary Clinical Research Center in...
    Richard Deyo; Fiscal Year: 2006
    ..It will require computer modeling, based on precedents in MR-PET scanning. We will determine if surgeons will accept the synthesized images as a replacement for CT-myelography for purposes of surgical planning. ..
  54. Development of furanones for treatment of anthrax
    Martin Blaser; Fiscal Year: 2005
    ..In initial studies, spores will be given subcutaneosly. Efficacy parameters will be defined as above. Successful trials can lead to phase I studies in humans, and treatment studies in non-human primates. ..
  55. GENETIC EPIDEMIOLOGY OF CORONARY ARTERY DISEASE
    CHARLES SING; Fiscal Year: 2005
    ..an intermediate quantitative trait that translates genomic variation into variation in risk of a common chronic disease. Genetic architecture is defined by the number of genes that influence a trait, the number of alleles for each ..
  56. Skeletal Development and Remodeling in Health, Disease and Aging
    Mone Zaidi; Fiscal Year: 2005
    ..York Academy of Sciences (NYAS) is planning a conference titled, "Skeletal Development and Remodeling in Health, Disease and Aging" to be held from May 18 to March 21, 2005 in New York City...
  57. Conference on Systems & Biology
    Marc Vidal; Fiscal Year: 2005
    ..abstract_text> ..
  58. INTERACTIONS OF DNA-PK WITH THE TRANSCRIPTION APPARATUS
    William Dynan; Fiscal Year: 2004
    ..Experiments in this proposal will provide definitive information about signaling interactions that occur between DNA-PK and the transcription apparatus. ..
  59. LENS MEMBRANE STEROID BINDING PROTEIN (MSRP)
    RICHARD CENEDELLA; Fiscal Year: 2002
    ..Preliminary findings and published data support the possibility that steroids can rapidly elevate intracellular calcium and inhibit Na+/K+-ATPase activity in lens epithelial cells. ..
  60. CELL-CELL INTERACTIONS IN TESTIS DEVELOPMENT
    Michael Skinner; Fiscal Year: 2007
    ..It is anticipated that the observations will lead to the design of future: therapeutic treatments for male infertility. ..
  61. Ovarian Primordial Follicle Development
    Michael K Skinner; Fiscal Year: 2010
    ..proposed is to determine if mutation(s) exist in any of the repertoire of growth factors and/or receptors established in the current study as potential causal factors for disease states such as premature ovarian failure.
  62. ROLES OF SOX C GENES IN SKELETOGENESIS
    VERONIQUE M LEFEBVRE; Fiscal Year: 2010
    ....
  63. Diabetes, Inflammation and Vascular Disease
    Susan Smyth; Fiscal Year: 2004
    Diabetes mellitus is a major risk factor for cardiovascular morbidity and mortality. Diabetic macrovascular disease is characterized by accelerated atherosclerosis, a propensity for acute thrombotic events, and a higher risk of clinical ..
  64. 2006 Reproductive Tract Biology Gordon Research Conference
    Jeffrey Pollard; Fiscal Year: 2006
    ..unreadable] [unreadable] [unreadable]..
  65. PHASE III TRIAL OF TETRATHIOMOLYBDATE IN PRIMARY BILIAR*
    George Brewer; Fiscal Year: 2007
    ..Abstract Not Provided ..
  66. STRUCTURE/FUNCTION STUDIES OF LONG-CHAIN BASES
    ALFRED MERRILL; Fiscal Year: 2003
    ....
  67. A Genome-wide Association Study for Early-Onset Myocardial Infarction
    David Altshuler; Fiscal Year: 2009
    ..numbers of SNPs, sample size and analytical rigor, that risk variants can be recognized by association with disease in the population...
  68. FUNCTIONS OF THE HEPATIC GAMMA-GLUTAMYL CYCLE
    Nazzareno Ballatori; Fiscal Year: 2007
    ....
  69. MODULATION BY GROWTH FACTORS AND SIGNAL TRANSDUCTION
    ALFRED MERRILL; Fiscal Year: 2003
    ..information about the importance of sphingolipid signaling in the action of toxicants such as benzo[a]pyrene, and will lead to novel interventions in preventing the cellular dysfunction and disease they produce.
  70. Role of Small GTPases in Muscarinic Receptor Trafficking
    ALFRED MERRILL; Fiscal Year: 2005
    ..abstract_text> ..