humans

Summary

Summary: Members of the species Homo sapiens.

Top Publications

  1. ncbi Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method
    K J Livak
    Applied Biosystems, Foster City, California 94404, USA
    Methods 25:402-8. 2001
  2. doi Global cancer statistics
    Ahmedin Jemal
    Surveillance Research, American Cancer Society, Atlanta, GA, USA
    CA Cancer J Clin 61:69-90. 2011
  3. doi Cancer statistics, 2013
    Rebecca Siegel
    Surveillance Information, Surveillance and Health Services Research, American Cancer Society, Atlanta, GA 30303 1002, USA
    CA Cancer J Clin 63:11-30. 2013
  4. doi Hallmarks of cancer: the next generation
    Douglas Hanahan
    The Swiss Institute for Experimental Cancer Research ISREC, School of Life Sciences, EPFL, Lausanne CH 1015, Switzerland
    Cell 144:646-74. 2011
  5. doi Cancer statistics, 2010
    Ahmedin Jemal
    Cancer Surveillance, Surveillance and Health Policy Research, American Cancer Society, Atlanta, GA 30303 1002, USA
    CA Cancer J Clin 60:277-300. 2010
  6. pmc Ultrafast and memory-efficient alignment of short DNA sequences to the human genome
    Ben Langmead
    Center for Bioinformatics and Computational Biology, Institute for Advanced Computer Studies, University of Maryland, College Park, MD 20742, USA
    Genome Biol 10:R25. 2009
  7. ncbi MicroRNAs: genomics, biogenesis, mechanism, and function
    David P Bartel
    Whitehead Institute for Biomedical Research, 9 Cambridge Center, Cambridge, MA 02142, USA
    Cell 116:281-97. 2004
  8. pmc PLINK: a tool set for whole-genome association and population-based linkage analyses
    Shaun Purcell
    Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
    Am J Hum Genet 81:559-75. 2007
  9. pmc Gapped BLAST and PSI-BLAST: a new generation of protein database search programs
    S F Altschul
    National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20894, USA
    Nucleic Acids Res 25:3389-402. 1997
  10. pmc The Pfam protein families database
    Robert D Finn
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK
    Nucleic Acids Res 38:D211-22. 2010

Detail Information

Publications357 found, 100 shown here

  1. ncbi Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method
    K J Livak
    Applied Biosystems, Foster City, California 94404, USA
    Methods 25:402-8. 2001
    ..In addition, we present the derivation and applications of two variations of the 2(-Delta Delta C(T)) method that may be useful in the analysis of real-time, quantitative PCR data...
  2. doi Global cancer statistics
    Ahmedin Jemal
    Surveillance Research, American Cancer Society, Atlanta, GA, USA
    CA Cancer J Clin 61:69-90. 2011
    ..Clinicians, public health professionals, and policy makers can play an active role in accelerating the application of such interventions globally...
  3. doi Cancer statistics, 2013
    Rebecca Siegel
    Surveillance Information, Surveillance and Health Services Research, American Cancer Society, Atlanta, GA 30303 1002, USA
    CA Cancer J Clin 63:11-30. 2013
    ..Further progress can be accelerated by applying existing cancer control knowledge across all segments of the population, with an emphasis on those groups in the lowest socioeconomic bracket and other underserved populations...
  4. doi Hallmarks of cancer: the next generation
    Douglas Hanahan
    The Swiss Institute for Experimental Cancer Research ISREC, School of Life Sciences, EPFL, Lausanne CH 1015, Switzerland
    Cell 144:646-74. 2011
    ..Recognition of the widespread applicability of these concepts will increasingly affect the development of new means to treat human cancer...
  5. doi Cancer statistics, 2010
    Ahmedin Jemal
    Cancer Surveillance, Surveillance and Health Policy Research, American Cancer Society, Atlanta, GA 30303 1002, USA
    CA Cancer J Clin 60:277-300. 2010
    ..Further progress can be accelerated by applying existing cancer control knowledge across all segments of the population and by supporting new discoveries in cancer prevention, early detection, and treatment...
  6. pmc Ultrafast and memory-efficient alignment of short DNA sequences to the human genome
    Ben Langmead
    Center for Bioinformatics and Computational Biology, Institute for Advanced Computer Studies, University of Maryland, College Park, MD 20742, USA
    Genome Biol 10:R25. 2009
    ..Multiple processor cores can be used simultaneously to achieve even greater alignment speeds. Bowtie is open source (http://bowtie.cbcb.umd.edu)...
  7. ncbi MicroRNAs: genomics, biogenesis, mechanism, and function
    David P Bartel
    Whitehead Institute for Biomedical Research, 9 Cambridge Center, Cambridge, MA 02142, USA
    Cell 116:281-97. 2004
    ..Although they escaped notice until relatively recently, miRNAs comprise one of the more abundant classes of gene regulatory molecules in multicellular organisms and likely influence the output of many protein-coding genes...
  8. pmc PLINK: a tool set for whole-genome association and population-based linkage analyses
    Shaun Purcell
    Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
    Am J Hum Genet 81:559-75. 2007
    ..Analysis of the patterns of segmental sharing has the potential to map disease loci that contain multiple rare variants in a population-based linkage analysis...
  9. pmc Gapped BLAST and PSI-BLAST: a new generation of protein database search programs
    S F Altschul
    National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20894, USA
    Nucleic Acids Res 25:3389-402. 1997
    ..PSI-BLAST is used to uncover several new and interesting members of the BRCT superfamily...
  10. pmc The Pfam protein families database
    Robert D Finn
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK
    Nucleic Acids Res 38:D211-22. 2010
    ..Pfam is available via servers in the UK (http://pfam.sanger.ac.uk/), the USA (http://pfam.janelia.org/) and Sweden (http://pfam.sbc.su.se/)...
  11. doi jModelTest: phylogenetic model averaging
    David Posada
    Mol Biol Evol 25:1253-6. 2008
    ..The program, including documentation, can be freely downloaded from the software section at http://darwin.uvigo.es...
  12. doi Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008
    Jacques Ferlay
    Section of Cancer Information, International Agency for Research on Cancer, 150 cours Albert Thomas, 69372 Lyon Cedex 08, France
    Int J Cancer 127:2893-917. 2010
    ..7%) and liver cancer (696,000 deaths, 9.2%). Cancer is neither rare anywhere in the world, nor mainly confined to high-resource countries. Striking differences in the patterns of cancer from region to region are observed...
  13. ncbi Global cancer statistics, 2002
    D Max Parkin
    Unit of Descriptive Epidemiology, International Agency for Research on Cancer, Lyon, France
    CA Cancer J Clin 55:74-108. 2005
    ..Most of the international variation is due to exposure to known or suspected risk factors related to lifestyle or environment, and provides a clear challenge to prevention...
  14. pmc Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles
    Aravind Subramanian
    Broad Institute of Massachusetts Institute of Technology and Harvard, 320 Charles Street, Cambridge, MA 02141, USA
    Proc Natl Acad Sci U S A 102:15545-50. 2005
    ..The GSEA method is embodied in a freely available software package, together with an initial database of 1,325 biologically defined gene sets...
  15. pmc MicroRNAs: target recognition and regulatory functions
    David P Bartel
    Howard Hughes Medical Institute, Massachusetts Institute of Technology, Cambridge, MA 02139, USA
    Cell 136:215-33. 2009
    ..This review outlines the current understanding of miRNA target recognition in animals and discusses the widespread impact of miRNAs on both the expression and evolution of protein-coding genes...
  16. pmc Ensembl 2012
    Paul Flicek
    European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton Cambridge CB10 1SD, UK
    Nucleic Acids Res 40:D84-90. 2012
    ..Of these, 55 species appear on the main Ensembl website and six species are provided on the Ensembl preview site (Pre!Ensembl; http://pre.ensembl.org) with preliminary support. The past year has also seen improvements across the project...
  17. ncbi Quantifying heterogeneity in a meta-analysis
    Julian P T Higgins
    MRC Biostatistics Unit, Institute of Public Health, Robinson Way, Cambridge CB2 2SR, UK
    Stat Med 21:1539-58. 2002
    ..One or both should be presented in published meta-analyses in preference to the test for heterogeneity...
  18. ncbi Multilineage potential of adult human mesenchymal stem cells
    M F Pittenger
    Osiris Therapeutics, 2001 Aliceanna Street, Baltimore, MD 21231 3043, USA
    Science 284:143-7. 1999
    ..These adult stem cells could be induced to differentiate exclusively into the adipocytic, chondrocytic, or osteocytic lineages. Individual stem cells were identified that, when expanded to colonies, retained their multilineage potential...
  19. pmc Finding the missing heritability of complex diseases
    Teri A Manolio
    National Human Genome Research Institute, Building 31, Room 4B09, 31 Center Drive, MSC 2152, Bethesda, Maryland 20892 2152, USA
    Nature 461:747-53. 2009
    ....
  20. doi Disability-adjusted life years (DALYs) for 291 diseases and injuries in 21 regions, 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010
    Christopher J L Murray
    Institute for Health Metrics and Evaluation, Seattle 98121, WA, USA
    Lancet 380:2197-223. 2012
    ..We aimed to calculate disease burden worldwide and for 21 regions for 1990, 2005, and 2010 with methods to enable meaningful comparisons over time...
  21. doi Global and regional mortality from 235 causes of death for 20 age groups in 1990 and 2010: a systematic analysis for the Global Burden of Disease Study 2010
    Rafael Lozano
    Institute for Health Metrics and Evaluation, Seattle, WA, USA
    Lancet 380:2095-128. 2012
    ....
  22. pmc The UCSC Genome Browser database: update 2011
    Pauline A Fujita
    Center for Biomolecular Science and Engineering, School of Engineering, University of California Santa Cruz, Santa Cruz, CA 95064, USA
    Nucleic Acids Res 39:D876-82. 2011
    ..New data highlights include seven new genome assemblies, a Neandertal genome data portal, phenotype and disease association data, a human RNA editing track, and a zebrafish Conservation track. We also describe updates to existing tracks...
  23. pmc Inference of population structure using multilocus genotype data
    J K Pritchard
    Department of Statistics, University of Oxford, United Kingdom
    Genetics 155:945-59. 2000
    ..g. , seven microsatellite loci in an example using genotype data from an endangered bird species. The software used for this article is available from http://www.stats.ox.ac.uk/ approximately pritch/home. html...
  24. ncbi Homeostasis model assessment: insulin resistance and beta-cell function from fasting plasma glucose and insulin concentrations in man
    D R Matthews
    Diabetologia 28:412-9. 1985
    ....
  25. ncbi The hallmarks of cancer
    D Hanahan
    Department of Biochemistry, Hormone Research Institute, University of California at San Francisco, 94143, USA
    Cell 100:57-70. 2000
  26. pmc A framework for variation discovery and genotyping using next-generation DNA sequencing data
    Mark A DePristo
    Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA
    Nat Genet 43:491-8. 2011
    ..We here discuss the application of these tools, instantiated in the Genome Analysis Toolkit, to deep whole-genome, whole-exome capture and multi-sample low-pass (∼4×) 1000 Genomes Project datasets...
  27. ncbi Global prevalence of diabetes: estimates for the year 2000 and projections for 2030
    Sarah Wild
    Public Health Sciences, University of Edinburgh, Edinburgh, Scotland
    Diabetes Care 27:1047-53. 2004
    ..The goal of this study was to estimate the prevalence of diabetes and the number of people of all ages with diabetes for years 2000 and 2030...
  28. pmc A comparative risk assessment of burden of disease and injury attributable to 67 risk factors and risk factor clusters in 21 regions, 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010
    Stephen S Lim
    Institute for Health Metrics and Evaluation, Seattle, WA 98121, USA
    Lancet 380:2224-60. 2012
    ..No complete revision of global disease burden caused by risk factors has been done since a comparative risk assessment in 2000, and no previous analysis has assessed changes in burden attributable to risk factors over time...
  29. pmc Multiplex genome engineering using CRISPR/Cas systems
    Le Cong
    Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, MA 02142, USA
    Science 339:819-23. 2013
    ....
  30. doi Cancer statistics, 2011: the impact of eliminating socioeconomic and racial disparities on premature cancer deaths
    Rebecca Siegel
    Surveillance Information, Surveillance Research, American Cancer Society, Atlanta, GA 30303 1002, USA
    CA Cancer J Clin 61:212-36. 2011
    ..CA Cancer J Clin 2011. © 2011 American Cancer Society...
  31. pmc miRBase: tools for microRNA genomics
    Sam Griffiths-Jones
    Faculty of Life Sciences, University of Manchester, Michael Smith Building, Oxford Road, Manchester, UK
    Nucleic Acids Res 36:D154-8. 2008
    ..miRBase is available at http://microrna.sanger.ac.uk/...
  32. pmc Most mammalian mRNAs are conserved targets of microRNAs
    Robin C Friedman
    Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA
    Genome Res 19:92-105. 2009
    ..Our expanded set of target predictions (including conserved 3'-compensatory sites), are available at the TargetScan website, which displays the P(CT) for each site and each predicted target...
  33. ncbi Principal components analysis corrects for stratification in genome-wide association studies
    Alkes L Price
    Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
    Nat Genet 38:904-9. 2006
    ..Our simple, efficient approach can easily be applied to disease studies with hundreds of thousands of markers...
  34. pmc Velvet: algorithms for de novo short read assembly using de Bruijn graphs
    Daniel R Zerbino
    EMBL European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, United Kingdom
    Genome Res 18:821-9. 2008
    ..Velvet represents a new approach to assembly that can leverage very short reads in combination with read pairs to produce useful assemblies...
  35. pmc KEGG for representation and analysis of molecular networks involving diseases and drugs
    Minoru Kanehisa
    Bioinformatics Center, Institute for Chemical Research, Kyoto University, Uji, Kyoto 611 0011, Japan
    Nucleic Acids Res 38:D355-60. 2010
    ..The new disease/drug information resource named KEGG MEDICUS can be used as a reference knowledge base for computational analysis of molecular networks, especially, by integrating large-scale experimental datasets...
  36. pmc RNA-guided human genome engineering via Cas9
    Prashant Mali
    Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    Science 339:823-6. 2013
    ..We also compute a genome-wide resource of ~190 K unique gRNAs targeting ~40.5% of human exons. Our results establish an RNA-guided editing tool for facile, robust, and multiplexable human genome engineering...
  37. pmc KEGG for integration and interpretation of large-scale molecular data sets
    Minoru Kanehisa
    Bioinformatics Center, Institute for Chemical Research, Kyoto University, Uji, Kyoto 611 0011, Japan
    Nucleic Acids Res 40:D109-14. 2012
    ..Finally, we describe recent enhancements to the KEGG content, especially the incorporation of disease and drug information used in practice and in society, to support translational bioinformatics...
  38. ncbi A more accurate method to estimate glomerular filtration rate from serum creatinine: a new prediction equation. Modification of Diet in Renal Disease Study Group
    A S Levey
    New England Medical Center, Boston, MA 02111, USA
    Ann Intern Med 130:461-70. 1999
    ..Serum creatinine concentration is widely used as an index of renal function, but this concentration is affected by factors other than glomerular filtration rate (GFR)...
  39. pmc The epithelial-mesenchymal transition generates cells with properties of stem cells
    Sendurai A Mani
    Whitehead Institute for Biomedical Research, 9 Cambridge Center, Cambridge, MA 02142, USA
    Cell 133:704-15. 2008
    ..These findings illustrate a direct link between the EMT and the gain of epithelial stem cell properties...
  40. pmc KEGG: kyoto encyclopedia of genes and genomes
    M Kanehisa
    Institute for Chemical Research, Kyoto University, Uji, Kyoto 611 0011, Japan
    Nucleic Acids Res 28:27-30. 2000
    ..The KEGG databases are daily updated and made freely available (http://www. genome.ad.jp/kegg/)...
  41. ncbi Analyzing real-time PCR data by the comparative C(T) method
    Thomas D Schmittgen
    Division of Pharmaceutics, College of Pharmacy, Ohio State University, Parks Hall, 500 West 12th Avenue, Columbus, Ohio, OH 43210 USA
    Nat Protoc 3:1101-8. 2008
    ..This protocol provides an overview of the comparative C(T) method for quantitative gene expression studies. Also presented here are various examples to present quantitative gene expression data using this method...
  42. pmc Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
    Lucia A Hindorff
    Office of Population Genomics, Genome Technology Branch, National Human Genome Research Institute, and National Center for Biotechnology Information, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 106:9362-7. 2009
    ..This new online resource, together with bioinformatic predictions of the underlying functionality at trait/disease-associated loci, is well-suited to guide future investigations of the role of common variants in complex disease etiology...
  43. ncbi The Psychophysics Toolbox
    D H Brainard
    Department of Psychology, University of California in Santa Barbara 93106, USA
    Spat Vis 10:433-6. 1997
    ..Its routines provide an interface between a high-level interpreted language (MATLAB on the Macintosh) and the video display hardware. A set of example programs is included with the Toolbox distribution...
  44. pmc Ensembl 2011
    Paul Flicek
    European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK
    Nucleic Acids Res 39:D800-6. 2011
    ..Since our previous report, we have substantially improved the presentation and integration of both data of disease relevance and the regulatory state of different cell types...
  45. doi Sequencing technologies - the next generation
    Michael L Metzker
    Human Genome Sequencing Center and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Rev Genet 11:31-46. 2010
    ..I also outline the broad range of applications for NGS technologies, in addition to providing guidelines for platform selection to address biological questions of interest...
  46. pmc Ensembl 2013
    Paul Flicek
    European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton Cambridge CB10 1SD, UK
    Nucleic Acids Res 41:D48-55. 2013
    ..Ensembl data are accessible through the genome browser at http://www.ensembl.org and through other tools and programmatic interfaces...
  47. pmc Prospective identification of tumorigenic breast cancer cells
    Muhammad Al-Hajj
    Department of Internal Medicine, Comprehensive Cancer Center, University of Michigan Medical School, Ann Arbor, MI 48109, USA
    Proc Natl Acad Sci U S A 100:3983-8. 2003
    ..Furthermore, because these cells drive tumor development, strategies designed to target this population may lead to more effective therapies...
  48. pdf DAVID: Database for Annotation, Visualization, and Integrated Discovery
    Glynn Dennis
    Science Applications International Corporation Frederick, Clinical Services Program, Laboratory of Immunopathogenesis and Bioinformatics, National Cancer Institute at Frederick, MD 21702, USA
    Genome Biol 4:P3. 2003
    ..A more judicious approach is to provide query-based access to an integrated database that disseminates biologically rich information across large datasets and displays graphic summaries of functional information...
  49. doi Prevalence and trends in obesity among US adults, 1999-2008
    Katherine M Flegal
    National Center for Health Statistics, Centers for Disease Control and Prevention, 3311 Toledo Rd, Room 4315, Hyattsville, MD 20782, USA
    JAMA 303:235-41. 2010
    ..The prevalence of obesity increased in the United States between 1976-1980 and 1988-1994 and again between 1988-1994 and 1999-2000...
  50. pmc Gene Expression Omnibus: NCBI gene expression and hybridization array data repository
    Ron Edgar
    National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Lister Hill Center, 8600 Rockville Pike, Bethesda, MD 20894, USA
    Nucleic Acids Res 30:207-10. 2002
    ..A series organizes samples into the meaningful data sets which make up an experiment. The GEO repository is publicly accessible through the World Wide Web at http://www.ncbi.nlm.nih.gov/geo...
  51. doi Global malaria mortality between 1980 and 2010: a systematic analysis
    Christopher J L Murray
    Institute for Health Metrics and Evaluation, University of Washington, Seattle, WA 98121, USA
    Lancet 379:413-31. 2012
    ..We aimed to provide an accurate assessment of the levels and time trends in malaria mortality to aid assessment of progress towards these goals and the focusing of future efforts...
  52. pmc A human gut microbial gene catalogue established by metagenomic sequencing
    Junjie Qin
    BGI Shenzhen, Shenzhen 518083, China
    Nature 464:59-65. 2010
    ..We define and describe the minimal gut metagenome and the minimal gut bacterial genome in terms of functions present in all individuals and most bacteria, respectively...
  53. pmc Model-based analysis of ChIP-Seq (MACS)
    Yong Zhang
    Department of Biostatistics and Computational Biology, Dana Farber Cancer Institute and Harvard School of Public Health, Boston, MA 02115, USA
    Genome Biol 9:R137. 2008
    ..MACS also uses a dynamic Poisson distribution to effectively capture local biases in the genome, allowing for more robust predictions. MACS compares favorably to existing ChIP-Seq peak-finding algorithms, and is freely available...
  54. doi The MIQE guidelines: minimum information for publication of quantitative real-time PCR experiments
    Stephen A Bustin
    Centre for Academic Surgery, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, London, UK
    Clin Chem 55:611-22. 2009
    ..The problem is exacerbated by a lack of sufficient experimental detail in many publications, which impedes a reader's ability to evaluate critically the quality of the results presented or to repeat the experiments...
  55. pmc Mammalian microRNAs predominantly act to decrease target mRNA levels
    Huili Guo
    Whitehead Institute for Biomedical Research, Cambridge, Massachusetts 02142, USA
    Nature 466:835-40. 2010
    ..These results show that changes in mRNA levels closely reflect the impact of miRNAs on gene expression and indicate that destabilization of target mRNAs is the predominant reason for reduced protein output...
  56. ncbi Induced pluripotent stem cell lines derived from human somatic cells
    Junying Yu
    Genome Center of Wisconsin, Madison, WI 53706 1580, USA
    Science 318:1917-20. 2007
    ....
  57. ncbi Chromatin modifications and their function
    Tony Kouzarides
    The Gurdon Institute and Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge, CB21QN, UK
    Cell 128:693-705. 2007
    ..In this way, histone modifications have the potential to influence many fundamental biological processes, some of which may be epigenetically inherited...
  58. pmc A default mode of brain function
    M E Raichle
    Mallinckrodt Institute of Radiology and Departments of Neurology and Psychiatry, Washington University School of Medicine, St Louis, MO 63110, USA
    Proc Natl Acad Sci U S A 98:676-82. 2001
    ..These decreases suggest the existence of an organized, baseline default mode of brain function that is suspended during specific goal-directed behaviors...
  59. ncbi Molecular portraits of human breast tumours
    C M Perou
    Department of Genetics, Stanford University School of Medicine, California 94305, USA
    Nature 406:747-52. 2000
    ..The tumours could be classified into subtypes distinguished by pervasive differences in their gene expression patterns...
  60. 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...
  61. pmc Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes
    Jo Vandesompele
    Center for Medical Genetics, Ghent University Hospital 1K5, De Pintelaan 185, B 9000 Ghent, Belgium
    Genome Biol 3:RESEARCH0034. 2002
    ....
  62. pmc RNA-Seq: a revolutionary tool for transcriptomics
    Zhong Wang
    Department of Molecular, Cellular and Developmental Biology, Yale University, 219 Prospect Street, New Haven, Connecticut 06520, USA
    Nat Rev Genet 10:57-63. 2009
    ..This article describes the RNA-Seq approach, the challenges associated with its application, and the advances made so far in characterizing several eukaryote transcriptomes...
  63. pmc Mapping short DNA sequencing reads and calling variants using mapping quality scores
    Heng Li
    The Wellcome Trust Sanger Institute, Hinxton CB10 1SA, United Kingdom
    Genome Res 18:1851-8. 2008
    ..Both read mapping and genotype calling are evaluated on simulated data and real data. MAQ is accurate, efficient, versatile, and user-friendly. It is freely available at http://maq.sourceforge.net...
  64. pmc Guidelines for the use and interpretation of assays for monitoring autophagy
    Daniel J Klionsky
    Life Sciences Institute, University of Michigan, Ann Arbor, MI, USA
    Autophagy 8:445-544. 2012
    ..Finally, by discussing the merits and limits of particular autophagy assays, we hope to encourage technical innovation in the field...
  65. doi Cancer statistics, 2012
    Rebecca Siegel
    Surveillance Research, American Cancer Society, Atlanta, GA 30303 1002, USA
    CA Cancer J Clin 62:10-29. 2012
    ..Further progress can be accelerated by applying existing cancer control knowledge across all segments of the population, with an emphasis on those groups in the lowest socioeconomic bracket...
  66. ncbi High-resolution profiling of histone methylations in the human genome
    Artem Barski
    Laboratory of Molecular Immunology, National Heart, Lung, and Blood Institute, NIH, Bethesda, MD 20892, USA
    Cell 129:823-37. 2007
    ..Our data provide new insights into the function of histone methylation and chromatin organization in genome function...
  67. pmc Fast and accurate long-read alignment with Burrows-Wheeler transform
    Heng Li
    Wellcome Trust Sanger Institute, Wellcome Genome Campus, Cambridge, CB10 1SA, UK
    Bioinformatics 26:589-95. 2010
    ..For longer reads, hashing-based software such as BLAT and SSAHA2 remain the only choices. Nonetheless, these methods are substantially slower than short-read aligners in terms of aligned bases per unit time...
  68. ncbi Comparative protein modelling by satisfaction of spatial restraints
    A Sali
    Department of Crystallography, Birkbeck College, London, England
    J Mol Biol 234:779-815. 1993
    ..The method is automated and is illustrated by the modelling of trypsin from two other serine proteinases...
  69. ncbi Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors
    Kazutoshi Takahashi
    Department of Stem Cell Biology, Institute for Frontier Medical Sciences, Kyoto University, Kyoto 606 8507, Japan
    Cell 126:663-76. 2006
    ..These data demonstrate that pluripotent stem cells can be directly generated from fibroblast cultures by the addition of only a few defined factors...
  70. pmc ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
    Kai Wang
    Center for Applied Genomics, Children s Hospital of Philadelphia, PA 19104, USA
    Nucleic Acids Res 38:e164. 2010
    ..7 million variants, making it practical to handle hundreds of human genomes in a day. ANNOVAR is freely available at http://www.openbioinformatics.org/annovar/...
  71. doi Epithelial-mesenchymal transitions in development and disease
    Jean Paul Thiery
    IMCB, A STAR, Proteos, Singapore 138673, Republic of Singapore
    Cell 139:871-90. 2009
    ....
  72. pmc Circos: an information aesthetic for comparative genomics
    Martin Krzywinski
    Canada s Michael Smith Genome Sciences Center, Vancouver, British Columbia V5Z 4S6, Canada
    Genome Res 19:1639-45. 2009
    ....
  73. pmc A new equation to estimate glomerular filtration rate
    Andrew S Levey
    Tufts Medical Center, Boston, Massachusetts 02111, USA
    Ann Intern Med 150:604-12. 2009
    ..Equations to estimate glomerular filtration rate (GFR) are routinely used to assess kidney function. Current equations have limited precision and systematically underestimate measured GFR at higher values...
  74. pmc Prevention of HIV-1 infection with early antiretroviral therapy
    Myron S Cohen
    University of North Carolina at Chapel Hill, Institute for Global Health and Infectious Diseases, Suite 2115, Bioinformatics Bldg, 130 Mason Farm Rd, CB 7030, Chapel Hill, NC 27599, USA
    N Engl J Med 365:493-505. 2011
    ..Antiretroviral therapy that reduces viral replication could limit the transmission of human immunodeficiency virus type 1 (HIV-1) in serodiscordant couples...
  75. pmc Accurate whole human genome sequencing using reversible terminator chemistry
    David R Bentley
    Illumina Cambridge Ltd Formerly Solexa Ltd, Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK
    Nature 456:53-9. 2008
    ..Our approach is effective for accurate, rapid and economical whole-genome re-sequencing and many other biomedical applications...
  76. ncbi A 12-Item Short-Form Health Survey: construction of scales and preliminary tests of reliability and validity
    J Ware
    Health Institute, New England Medical Center, Boston, Massachusetts, USA
    Med Care 34:220-33. 1996
    ....
  77. doi SOAP2: an improved ultrafast tool for short read alignment
    Ruiqiang Li
    Beijing Genomics Institute at Shenzhen, Shenzhen, 518083, China
    Bioinformatics 25:1966-7. 2009
    ..Additionally, this tool now supports multiple text and compressed file formats. A consensus builder has also been developed for consensus assembly and SNP detection from alignment of short reads on a reference genome...
  78. ncbi Radiotherapy plus concomitant and adjuvant temozolomide for glioblastoma
    Roger Stupp
    Multidisciplinary Oncology Center, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    N Engl J Med 352:987-96. 2005
    ..In this trial we compared radiotherapy alone with radiotherapy plus temozolomide, given concomitantly with and after radiotherapy, in terms of efficacy and safety...
  79. pmc Alternative isoform regulation in human tissue transcriptomes
    Eric T Wang
    Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA
    Nature 456:470-6. 2008
    ....
  80. pmc Circulating microRNAs as stable blood-based markers for cancer detection
    Patrick S Mitchell
    Divisions of Human Biology, Clinical Research, and Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA
    Proc Natl Acad Sci U S A 105:10513-8. 2008
    ..This concept extends to cancer in humans, where serum levels of miR-141 (a miRNA expressed in prostate cancer) can distinguish patients with prostate ..
  81. pmc The UCSC Genome Browser database: update 2010
    Brooke Rhead
    Center for Biomolecular Science and Engineering, School of Engineering, University of California Santa Cruz, Santa Cruz, CA 95064, USA
    Nucleic Acids Res 38:D613-9. 2010
    ....
  82. pmc A map of human genome variation from population-scale sequencing
    Richard M Durbin
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK
    Nature 467:1061-73. 2010
    ..These methods and public data will support the next phase of human genetic research...
  83. ncbi Standardisation of spirometry
    M R Miller
    University Hospital Birmingham NHS Trust, Birmingham, UK
    Eur Respir J 26:319-38. 2005
  84. doi Human infection with a novel avian-origin influenza A (H7N9) virus
    Rongbao Gao
    National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, China
    N Engl J Med 368:1888-97. 2013
    Infection of poultry with influenza A subtype H7 viruses occurs worldwide, but the introduction of this subtype to humans in Asia has not been observed previously...
  85. doi Years lived with disability (YLDs) for 1160 sequelae of 289 diseases and injuries 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010
    Theo Vos
    School of Population Health, Brisbane, QLD, Australia
    Lancet 380:2163-96. 2012
    ..Neither effort quantified uncertainty in prevalence or years lived with disability (YLDs)...
  86. ncbi Induction of pluripotent stem cells from adult human fibroblasts by defined factors
    Kazutoshi Takahashi
    Department of Stem Cell Biology, Institute for Frontier Medical Sciences, Kyoto University, Kyoto 606 8507, Japan
    Cell 131:861-72. 2007
    ..Furthermore, these cells could differentiate into cell types of the three germ layers in vitro and in teratomas. These findings demonstrate that iPS cells can be generated from adult human fibroblasts...
  87. ncbi Cd-hit: a fast program for clustering and comparing large sets of protein or nucleotide sequences
    Weizhong Li
    Burnham Institute for Medical Research La Jolla, CA 92037, USA
    Bioinformatics 22:1658-9. 2006
    ..All these programs can handle huge datasets with millions of sequences and can be hundreds of times faster than methods based on the popular sequence comparison and database search tools, such as BLAST...
  88. pmc Establishing a standard definition for child overweight and obesity worldwide: international survey
    T J Cole
    Department of Epidemiology and Public Health, Institute of Child Health, London WC1N 1EH
    BMJ 320:1240-3. 2000
    ..To develop an internationally acceptable definition of child overweight and obesity, specifying the measurement, the reference population, and the age and sex specific cut off points...
  89. pmc mTOR signaling in growth control and disease
    Mathieu Laplante
    Whitehead Institute for Biomedical Research, Nine Cambridge Center, Cambridge, MA 02142, USA
    Cell 149:274-93. 2012
    ..Here, we review recent advances in our understanding of the mTOR pathway and its role in health, disease, and aging. We further discuss pharmacological approaches to treat human pathologies linked to mTOR deregulation...
  90. ncbi Automated anatomical labeling of activations in SPM using a macroscopic anatomical parcellation of the MNI MRI single-subject brain
    N Tzourio-Mazoyer
    Groupe d Imagerie Neurofonctionnelle, UMR 6095 CNRS CEA, Universite de Caen, Université de Paris 5, France
    Neuroimage 15:273-89. 2002
    ..However, this tool does not alleviate the need for more sophisticated labeling strategies based on anatomical or cytoarchitectonic probabilistic maps...
  91. ncbi Conserved seed pairing, often flanked by adenosines, indicates that thousands of human genes are microRNA targets
    Benjamin P Lewis
    Cell 120:15-20. 2005
    ..Targeting was also detected in open reading frames. In sum, well over one third of human genes appear to be conserved miRNA targets...
  92. pmc The UCSC Genome Browser database: extensions and updates 2013
    Laurence R Meyer
    Center for Biomolecular Science and Engineering, School of Engineering, University of California Santa Cruz UCSC, Santa Cruz, CA 95064, USA
    Nucleic Acids Res 41:D64-9. 2013
    ..We have also introduced several features to improve usability, including new navigation menus. This article provides an update to the UCSC Genome Browser database, which has been previously featured in the Database issue of this journal...
  93. pmc Effectiveness and safety of tenofovir gel, an antiretroviral microbicide, for the prevention of HIV infection in women
    Quarraisha Abdool Karim
    Centre for the AIDS Program of Research in South Africa CAPRISA, Durban 4013, South Africa
    Science 329:1168-74. 2010
    ..Tenofovir gel could potentially fill an important HIV prevention gap, especially for women unable to successfully negotiate mutual monogamy or condom use...
  94. pmc The IntAct molecular interaction database in 2010
    B Aranda
    EMBL Outstation, European Bioinformatics Institute, Wellcome Trust Genome Campus Hinxton, Cambridge CB10 1SD, UK
    Nucleic Acids Res 38:D525-31. 2010
    ..Specialized views then allows 'zooming in' on the full annotation of interactions, interactors and their properties. IntAct source code and data are freely available at http://www.ebi.ac.uk/intact...
  95. ncbi Normalization of real-time quantitative reverse transcription-PCR data: a model-based variance estimation approach to identify genes suited for normalization, applied to bladder and colon cancer data sets
    Claus Lindbjerg Andersen
    Molecular Diagnostic Laboratory, Department of Clinical Biochemistry, Aarhus University Hospital, Skejby, DK 8200 Aarhus N, Denmark
    Cancer Res 64:5245-50. 2004
    ..The presented strategy can be applied to evaluate the suitability of any normalization gene candidate in any kind of experimental design and should allow more reliable normalization of RT-PCR data...
  96. ncbi Exploration, normalization, and summaries of high density oligonucleotide array probe level data
    Rafael A Irizarry
    Department of Biostatistics, Johns Hopkins University, Baltimore, MD 21205, USA
    Biostatistics 4:249-64. 2003
    ..We conclude that there is no obvious downside to using RMA and attaching a standard error (SE) to this quantity using a linear model which removes probe-specific affinities...
  97. pmc COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer
    Simon A Forbes
    Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, CB10 1SA Cambridge, UK
    Nucleic Acids Res 39:D945-50. 2011
    ..With all genomic information recently updated to GRCh37, COSMIC integrates many diverse types of mutation information and is making much closer links with Ensembl and other data resources...
  98. ncbi MicroRNA expression profiles classify human cancers
    Jun Lu
    Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02141, USA
    Nature 435:834-8. 2005
    ..These findings highlight the potential of miRNA profiling in cancer diagnosis...
  99. pmc Human DNA methylomes at base resolution show widespread epigenomic differences
    Ryan Lister
    Genomic Analysis Laboratory, The Salk Institute for Biological Studies, La Jolla, California 92037, USA
    Nature 462:315-22. 2009
    ..These reference epigenomes provide a foundation for future studies exploring this key epigenetic modification in human disease and development...

Research Grants75

  1. STATISITICAL DESIGN, MONITORING &COORD. OF VISION CLINICAL TRIALS &EPIDEMIOLOGY
    Keri Hammel; Fiscal Year: 2012
    ..Monitoring of Eye Movement in Schizophrenia Number: 10-EI-0016 Summary: Background: - Researchers are studying how humans are able to move our eyes to a remembered region even when the target has disappeared...
  2. STATISITICAL DESIGN, MONITORING &COORD. OF VISION CLINICAL TRIALS &EPIDEMIOLOGY
    Keri Hammel; Fiscal Year: 2013
    ..Monitoring of Eye Movement in Schizophrenia Number: 10-EI-0016 Summary: Background: - Researchers are studying how humans are able to move our eyes to a remembered region even when the target has disappeared...
  3. Understanding/ Treating Neuropsychiatric Symptoms of Pediatric Physical Illness
    Eva Szigethy; Fiscal Year: 2009
    ..abstract_text> ..
  4. Discovery metabolite profiling of the prolyl peptidases
    Alan Saghatelian; Fiscal Year: 2009
    ..Furthermore, the application of DMP to peptidases will demonstrate the generality of this approach for the future characterization of medically relevant enzymes and signaling pathways. ..
  5. 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. ..
  6. 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. ..
  7. NIH Director's Pioneer Award
    Junying Yuan; Fiscal Year: 2009
    ..No Abstract provided ..
  8. NIH Director's Pioneer Award
    ERICH JARVIS; Fiscal Year: 2009
    ..brain pathways of the few rare groups that have vocal learning - four groups of distantly related mammals (humans, cetaceans, elephants, and bats) and three groups of distantly related birds (parrots, hummingbirds, and songbirds)..
  9. High Throughput Genotyping and DNA Sequencing for Studying the Genetic Contributi
    Sonia Dua; Fiscal Year: 2013
    ..Employ methods for carrying out genome-wide linkage studies in humans and mice using panels of SNP markers or sample sequencing methods documented to cover the genome (mouse or human) ..
  10. Regulation of HSV-1 Gene Expression and Replication by Nuclear Hormone Receptors
    SHAOCHUNG VICTOR HSIA; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): HSV-1 is one of the most common viral infections affecting humans from mild cold sores to severe ocular keratitis and deadly encephalitis...
  11. Human embryonic stem cell-derived neural crest stem cells and Hirschsprung disea
    Sean J Morrison; Fiscal Year: 2010
    ..System/*growth &amp;development</keyword;keyword>*Gastrointestinal Motility</keyword;keyword>Humans</keyword;keyword>Infant, Newborn</keyword;keyword>Intestinal Diseases/*physiopathology</keyword;..
  12. ASTHMA AND ALLERGIC DISEASE CENTER
    Thomas A Platts Mills; Fiscal Year: 2010
    ..Project 2: CD25+CD4+ T cells and IgE-mediated disease in humans: The phenotype and function of a novel CD25+CD4+ subset associated with IgE responses will be analyzed...
  13. The Primate Corpus Luteum: Functional Regression and Cardiovascular Impacts
    Randy L Bogan; Fiscal Year: 2012
    ..goal of becoming an independent investigator in reproductive physiology to help improve the reproductive health of humans, the candidate has identified three immediate areas where additional training is needed to ensure success as an ..
  14. Immune Regulation of Bone Homeostasis
    MERVYN NEALE WEITZMANN; Fiscal Year: 2012
    ..of B cell depletion in mice in vivo using an anti-CD20 antibody that mimics the agent Rituximab, now used in humans to treat refractory Rheumatoid Arthritis and certain B cell lymphomas...
  15. MECHANISMS IN THE REGULATION OF SP-A GENE EXPRESSION
    Carole R Mendelson; Fiscal Year: 2013
    ..In the proposed research, we will utilize fetal lung tissues from humans and mice to further define the underlying biochemical and molecular mechanisms for epigenetic and genetic changes ..
  16. Brain Activation responses in adolescents with genetic predisposition to obesity
    Susan Carnell; Fiscal Year: 2011
    ..Her Co-mentor is Dr. Wendy Chung, well-known for basic research on genetic influences on obesity in rodents and humans. Facilities available via NYORC include Molecular Genetic and Hormone-Metabolite Core Labs, which handle ..
  17. Iron-mediated vascular disease in sickle cell disease.
    John C Wood; Fiscal Year: 2010
    ..As humans have no effective way to remove excess iron, the iron remains throughout life unless chelation therapy is ..
  18. Genome-wide recombination as a risk factor for nondisjunction
    NATASHA D HOLLIS; Fiscal Year: 2010
    ..Furthermore, the results will enhance our ability to tease apart the susceptibility for nondisjunction in humans into its individual influential factors...
  19. Enhanced iron removal with peptide linked chelators targeted to ferritin
    Elizabeth C Theil; Fiscal Year: 2010
    ..Whether the peptide-DFO complex will increase iron removal from cultured cells, animal models or humans remains to be determined...
  20. Principles of Therapy in Cerebellar Disease: Explorations in Ion Channel Mutants
    JOHN SAMUEL STAHL; Fiscal Year: 2013
    ..Two drugs that influence neuronal potassium channels have been shown to ameliorate cerebellar deficits in humans and mice, and may provide starting points to develop more efficacious and tolerable drugs...
  21. Brain mast cells and Chronic Fatigue Syndrome
    Theoharis C Theoharides; Fiscal Year: 2013
    ..The proposed research is hypothesis-driven, is based on strong preliminary evidence, is innovative with high likelihood for novel findings with applicability to humans.
  22. Gamma-Synuclein-Mediated Regulation of Norepinephrine Transporter
    Anita Sidhu; Fiscal Year: 2010
    ..is overexpressed, adding clinical relevance for a role for -Syn in the genesis and maintenance of depression in humans. We hypothesize that -Syn acts as a prodepressant, and that imbalances in -Syn/...
  23. Optimized Growth Media to Detect Intracellular Bacteria Implicated in Chronic Dis
    PATRICIA MASCARELLI; Fiscal Year: 2011
    ..of single and polymicrobial Bartonella infections in blood samples obtained from both chronically-ill and healthy humans and animals...
  24. Effects of Testosterone and Genetic Factors on Psychological and Motor Function i
    NICOLE RENEE TARTAGLIA; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Klinefelter syndrome (KS/XXY) is the most common chromosomal abnormality in humans (1:650 males) and represents an excellent model in which to study the interplay between genetic factors and ..
  25. Structure and function of urea transporters
    Ming Zhou; Fiscal Year: 2013
    ..In humans, loss of urea transporter causes reduced capability to concentrate urine, and genetic variations of urea ..
  26. Development of VN/14-1 and Related Analogs for Breast Cancer Therapy
    VINCENT COLLINS OFUKA NJAR; Fiscal Year: 2013
    ..and its active metabolite, all-trans retinoic acid (ATRA) on the incidence of breast and prostate cancers in humans. ATRA is required for the appropriate cellular differentiation of normal human breast epithelial cells...
  27. Neurobehavioral Correlates of Familial/genetic obesity risk in adolescents
    Susan Carnell; Fiscal Year: 2013
    ..Her Co-mentor is Dr. Wendy Chung, well-known for basic research on genetic influences on obesity in rodents and humans. Facilities available via NYORC include Molecular Genetic and Hormone-Metabolite Core Labs, which handle ..
  28. Inhibition of human neutrophil function by Francisella tularensis
    Lee Ann H Allen; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Tularemia is a potentially fatal zoonosis of humans caused by the facultative intracellular bacterium, Francisella tularensis (Ft)...
  29. Lung Lysyl Oxidase Regulation by Metal Ion Homeostasis
    Wande Li; Fiscal Year: 2013
    ..Chronic exposure of humans to cadmium (Cd), a heavy metal, either from occupational contamination or from cigarette smoke, induces emphysema ..
  30. Prospective studies of cancer etiology and prevention in Shanghai and Singapore
    Jian Min Yuan; Fiscal Year: 2013
    ..The findings of the proposed study will have great impact on reducing incidence and mortality of lung and liver cancers in humans.
  31. Role of Txnip in adapting fuel metabolism to nutritional state
    SIMON HUI; Fiscal Year: 2013
    ..Results of this proposed research will provide fundamental information that may lead to better prevention and/or therapeutics for diabetes and cardiovascular disease in humans.
  32. Mucosal Immunity, Vaccines and Microbiota Interplay in Humans and Animal
    Marcelo B Sztein; Fiscal Year: 2013
    ..our understanding of the protective immunological mechanisms that can be elicited in the Gl microenvironment of humans. Moreover, because the normal Gl flora (microbiota) is certain to influence the host immune response, we propose ..
  33. Cellular &Inflammatory Pathways in Ashtma &Allergic Diseases: From IgE to Cells
    LAWRENCE BARRY SCHWARTZ; Fiscal Year: 2012
    ..and mast cells and possibly basophils are the major effector cells of IgE-mediated immediate hypersensitivity in humans. Previous work by the investigators involved in Project 1 includes developing tryptase as a clinical marker for ..
  34. T cell regulation by N-glycosylation
    Michael Demetriou; Fiscal Year: 2013
    ..In humans, a haplotype of MGAT1 that decreases N-glycan branching in glycoproteins by ~20% synergistically interacts with an ..
  35. A Soft Topical Antiandrogenic Drug
    Wei Chu Xu; Fiscal Year: 2013
    ..While acne vulgaris is the most prevalent skin disorder in humans, the other diseases are also relatively common...
  36. IMMUNOGENETICS OF COLLAGEN INDUCED ARTHRITIS IN MICE
    Chella David; Fiscal Year: 2009
    ..HLA-DQ8 and DRB1*0401 molecules render humans and mice susceptible to develop arthritis while DQ6/DR2 and DRB1*0402 provide protection...
  37. Iron, Metabolic Regulation and Type 2 Diabetes Risk
    Donald A McClain; Fiscal Year: 2013
    ..We established in mice and humans a causal role for iron in decreasing insulin secretion and adiponectin: We achieved significant protection from ..
  38. Genetic and physiological causes of inherited Vascular and Metabolic Diseases
    Arya Mani; Fiscal Year: 2013
    ..evidence for relationship between impairment of this pathway and development of CAD and metabolic syndrome in humans. The current study goals are investigating the effect of the mutation on metabolism of glucose and insulin ..
  39. MOLECULAR BASIS OF REOVIRUS PATHOGENESIS
    Terence S Dermody; Fiscal Year: 2013
    ..Reovirus infects a variety of mammalian species, including humans, but disease is restricted to the very young...
  40. GENETIC ANALYSIS OF POLARITY
    RUTH M STEWARD; Fiscal Year: 2010
    ..Most genes essential for the formation and maturation of Drosophila hemocytes are conserved in humans, and the majority is associated with hematopoietic malignancies...
  41. Mitochondrial Dysfunction and Adipose Insulin Resistance
    David A Bernlohr; Fiscal Year: 2013
    ..of insulin resistance but also occurs selectively in obese, insulin resistant, but not obese, insulin sensitive humans thereby providing a molecular differentiation between obesity and insulin resistance...
  42. Hydrodynamic forces modulate renal tubular function
    Rajeev Rohatgi; Fiscal Year: 2012
    ..response to water or Na loading, are associated with increases in urinary PGE2 concentration in mice, rodents and humans, which in turn, enhance Na and water excretion...
  43. DNA methylation of extracellular superoxide dismutase in pulmonary hypertension
    EVA NOZIK GRAYCK; Fiscal Year: 2012
    ..to test whether the EC-SOD promoter in pulmonary artery tissue and pulmonary artery smooth muscle cells from humans with IPAH is hypermethylated, and if reversal of methylation restores EC-SOD expression and normal cell ..
  44. SUPPORT CONTRACT FOR THE NTP INTERAGENCY CENTER/VALIDATION OF ALT METHODS
    David Allen; Fiscal Year: 2009
    ..therapy, tissues, monoclonal antibodies, and recombinant therapeutic proteins that are used to treat or protect humans or animals...
  45. Preclinical Development of JS-K, a Novel NO-Generating Prodrug for Cancer
    Paul J Shami; Fiscal Year: 2012
    ..that P123 Pluronic(R) micelle JS-K will prove non-toxic in therapeutic doses needed to treat cancer in humans. In Phase I, JSKT will accomplish 3 deliverables: 1) perform acute IV toxicology of JS-K in rats;2) perform ..
  46. Cellular &Molecular Defects in Human B Cell Development
    Charlotte Cunningham-Rundles; Fiscal Year: 2013
    ..primary immune deficiencies were described in infants with severe disease, primary immune defects are found in humans of all ages, leading to characteristic complications and significant mortality...
  47. Novel PET imaging agents for early diagnosis of plaque deposition in Alzheimer's
    Padmakar Kulkarni; Fiscal Year: 2010
    ..The goal of the proposal is to develop biomarkers for the detection of amyloid plaques in living humans. Successful development of these biomarkers would allow for detection of amyloid burden in subjects with Alzheimer&..
  48. Systematics of medically important Dermacentor tick vectors
    Dmitry A Apanaskevich; Fiscal Year: 2011
    ..Among arthropods, ticks are second only to mosquitoes in transmitting pathogens to humans, pets, livestock, and wild animals...
  49. Mitochondrial dysfunction, oxidative stress, and surgical acute kidney injury
    FREDERIC TREMAINE BILLINGS; Fiscal Year: 2013
    ..models of AKI and three papers on the inflammatory/pro-oxidant response to surgery and therapy for AKI in humans. During the grant award period, the candidate will test the hypotheses that 1) Mitochondrial dysfunction is ..
  50. Genomics of Antiviral Responses of Anopheles gambiae Against O'nyong-nyong Virus
    Young S Hong; Fiscal Year: 2010
    ..viral diseases demand more research to provide intervention strategies in their viral transmission to humans. One area of the life cycle for which we lack knowledge is the response of the mosquito vector to an arboviral ..
  51. Chronic Sleep Restriction Increases Immunity to Autoantigen: Role of the SNS
    Arnold E Postlethwaite; Fiscal Year: 2010
    ..Studies in animals and humans suggest that sleep deprivation leads to changes in hormones and increased sympathetic nervous system (SNS) ..
  52. Alternative Macrophage Activation Limits Immunopathology
    DEBROSKI R HERBERT; Fiscal Year: 2011
    ..Schistosoma pathogenesis is remarkably similar in humans and mice, both of which require TH2 responses for survival during the acute phase of infection...
  53. Pathobiology of Cystic Fibrosis-Related Diabetes in a Ferret Model
    Zoe Stewart; Fiscal Year: 2013
    ..of the basis of phenotypic variation in CFTR-associated pancreatic disease observed in both the CF ferrets and humans, and 3) the development of a pancreatic gene replacement approach that will aid in dissecting pathophysiology and ..
  54. Model of Timothy Syndrome to Screen Drugs with Induced Pluripotent Stem Cells
    Masayuki Yazawa; Fiscal Year: 2013
    ..Though many of the genes are reported to cause LQTS, the mechanisms underlying the disease in humans are incompletely understood...
  55. Systemic Inflammation and Central Nervous System Dysfunction
    Laura L Dugan; Fiscal Year: 2013
    ..In humans, circulating markers of inflammation, including the inflammatory cytokine interleukin-6 (IL-6), are associated ..
  56. Model of Timothy Syndrome to Screen Drugs with Induced Pluripotent Stem Cells
    Masayuki Yazawa; Fiscal Year: 2013
    ..Though many of the genes are reported to cause LQTS, the mechanisms underlying the disease in humans are incompletely understood...
  57. Nanopolymersomes for Transcutaneous Co-Delivery of Vaccine Antigens and Adjuvants
    PAUL CAMILLE TUMEH; Fiscal Year: 2013
    ..As a model of disease prevention in humans, I will test the ability of NPS to deliver the L1 capsid protein from CRPV with IMQ to generate a protective ..
  58. Hepatic Steatosis Modulation by Apo B Gene Transcription
    JANET DEHOFF SPARKS; Fiscal Year: 2010
    ..This suggests a similar mechanism may be responsible for the reduction of hepatic steatosis observed in humans fed betaine...
  59. A unique approach to identify markers for congenital syphilis and neurosyphilis
    Nikhat Parveen; Fiscal Year: 2010
    ..iii) T. pallidum exhibits extreme host specificity with humans as its only natural host...
  60. Transgenesis and Xenotransplantation
    Jorge A Piedrahita; Fiscal Year: 2013
    ..facilitate pharmacological testing, the study of diseases such as hepatitis, development of models of liver-associated diseases such as cirrhosis, and eventual development of a human hepatocytes that can be transplanted back into humans.
  61. BONE MATRIX AND BONE RESORPTION
    Paul R Odgren; Fiscal Year: 2012
    ..We also showed that a PLEKHM1 frameshift mutation causes osteopetrosis in humans. Both ia rats and the human patient have TRAP+, non-resorbing osteoclasts with defective ruffled borders (RB) and ..
  62. Bisphosphonates in the treatment of chronic kidney disease-mineral bone disease
    Sharon M Moe; Fiscal Year: 2013
    ..and left ventricular hypertrophy, accurately reflecting the clinical disease progression observed in humans with CKD...
  63. Cre, Dre Dual Lineage Model for Calcium Imaging and Optogenetic Manipulations
    Petr Tvrdik; Fiscal Year: 2013
    ..Temporal lobe epilepsy is the most common type of epilepsy in humans. Only recently, astrocytes have been shown to play an important role in the disease progress...
  64. Triazole hypersensitivity in Candida albicans
    Neeraj Chauhan; Fiscal Year: 2009
    ..However, since like humans, fungi are eukaryotes, targets for anti-fungal drug discovery must not be found in humans and, in addition, ..
  65. EID - Effects of avian migration & anthropogenic change on the distribution & tra
    Thomas Smith; Fiscal Year: 2009
    ..birds may share the same habitat as poultry, which may make them more effective transmitters of disease to humans than aquatic species such as waterfowl...
  66. Killed But Metabolically Active Leishmania: a novel protozoan vaccine technology
    Noah Craft; Fiscal Year: 2009
    ..DESCRIPTION (provided by applicant): The insect-borne protozoa Leishmania causes death and morbidity in millions of humans living in and traveling to the developing world...
  67. Safety signal learning in Rhesus monkeys following early life stressChallenge Ar
    MICHAEL NMN DAVIS; Fiscal Year: 2010
    ..Despite substantial anecdotal evidence in support of this hypothesis, direct tests in humans or animals, using well-controlled behavioral paradigms, have been limited...
  68. Long-acting Growth Hormone for Treating HIV-Associated Adipose Redistribution Syn
    George Cox; Fiscal Year: 2009
    ..anticipate that our long- acting GH analog will be effective when administered once per week or less frequently in humans. The improved in vivo characteristics of this novel GH analog will reduce the need for frequent injections, ..
  69. Investigations of the role of house flies as vectors for bacterial pathogens
    Dana Nayduch; Fiscal Year: 2009
    ..and indiscriminate feeding habits, house flies are involved in the epidemiology of >65 diseases that affect humans world-wide...
  70. Robust Peptide-Based Diagnostics of Botulinum Toxins
    John E Mueller; Fiscal Year: 2012
    ..botulinum, are highly lethal microbial proteins with an extremely low half-lethal dose of only 1-3 ng/kg in humans. In other words, one hundredth of a milligram (10 [unreadable]g) of the toxin could be extremely fatal to an adult;..
  71. ORAL DRUG DELIVERY AND BIOAVAILABILITY--AIDS
    Gordon Amidon; Fiscal Year: 1993
    ..bioavailability is largely treated on an empirical basis with after-the-fact analysis of studies in animals and/or humans. This is undoubtedly due to the complexity of processes involved in drug absorption and metabolism from the ..
  72. Characterization of de novo generation of infectious prions
    Joaquin Castilla; Fiscal Year: 2009
    Transmissible spongiform encephalopathies (TSEs) are a group of neurodegenerative disorders affecting both humans and animals. There is no available treatment or therapy for these fatal diseases...
  73. Exploring persistent epigenetic changes after prenatal famine exposure in humans
    L H Lumey; Fiscal Year: 2010
    ..However, until now, there have been few opportunities to link these two lines of evidence in humans by examining exposures during critical periods including the prenatal and early life periods and DNA methylation ..
  74. Neuroendocrine Response to Gastric Bypass in Nonhuman Primates
    Randy J Seeley; Fiscal Year: 2010
    ..physiological regulation of energy balance, ingestive behavior and glucose homeostasis in rodents diverges from humans in ways that may limit the applicability of rodent models to human disease...
  75. Pig to Non-Human Primate Islet Xenografts
    Bernhard Hering; Fiscal Year: 2009
    ..of the immunobiology of anti-pig islet immune responses in a preclinical nonhuman primate (NHP) model close to humans. The proposed research program brings together a group of collaborating investigators, combining diverse ..