Summary: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

Top Publications

  1. pmc The genetics of Caenorhabditis elegans
    S Brenner
    Genetics 77:71-94. 1974
  2. doi Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    Prateek Kumar
    Department of Genomic Medicine, J Craig Venter Institute, San Diego, California, USA
    Nat Protoc 4:1073-81. 2009
  3. pmc Cytoscape: a software environment for integrated models of biomolecular interaction networks
    Paul Shannon
    Institute for Systems Biology, Seattle, Washington 98103, USA
    Genome Res 13:2498-504. 2003
  4. 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
  5. 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
  6. pmc Biological, clinical and population relevance of 95 loci for blood lipids
    Tanya M Teslovich
    Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA
    Nature 466:707-13. 2010
  7. pmc The Drosophila melanogaster Genetic Reference Panel
    Trudy F C Mackay
    Department of Genetics, North Carolina State University, Raleigh, North Carolina 27695, USA
    Nature 482:173-8. 2012
  8. pmc The Mouse Genome Database (MGD): premier model organism resource for mammalian genomics and genetics
    Judith A Blake
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Nucleic Acids Res 39:D842-8. 2011
  9. pmc Identification of a CpG island methylator phenotype that defines a distinct subgroup of glioma
    Houtan Noushmehr
    USC Epigenome Center, University of Southern California, Los Angeles, CA 90033, USA
    Cancer Cell 17:510-22. 2010
  10. ncbi Targeted gene expression as a means of altering cell fates and generating dominant phenotypes
    A H Brand
    Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115
    Development 118:401-15. 1993

Detail Information

Publications469 found, 100 shown here

  1. pmc The genetics of Caenorhabditis elegans
    S Brenner
    Genetics 77:71-94. 1974
    ..Mutations in 77 of these alter the movement of the animal. Estimates of the induced mutation frequency of both the visible mutants and X chromosome lethals suggests that, just as in Drosophila, the genetic units in C. elegans are large...
  2. doi Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    Prateek Kumar
    Department of Genomic Medicine, J Craig Venter Institute, San Diego, California, USA
    Nat Protoc 4:1073-81. 2009
    The effect of genetic mutation on phenotype is of significant interest in genetics...
  3. pmc Cytoscape: a software environment for integrated models of biomolecular interaction networks
    Paul Shannon
    Institute for Systems Biology, Seattle, Washington 98103, USA
    Genome Res 13:2498-504. 2003
  4. 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...
  5. 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 cells displayed a stable phenotype and remained as a monolayer in vitro...
  6. pmc Biological, clinical and population relevance of 95 loci for blood lipids
    Tanya M Teslovich
    Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA
    Nature 466:707-13. 2010
    ..Taken together, our findings provide the foundation to develop a broader biological understanding of lipoprotein metabolism and to identify new therapeutic opportunities for the prevention of CAD...
  7. pmc The Drosophila melanogaster Genetic Reference Panel
    Trudy F C Mackay
    Department of Genetics, North Carolina State University, Raleigh, North Carolina 27695, USA
    Nature 482:173-8. 2012
    ..Previous efforts to dissect the genotype-phenotype map were based on incomplete genotypic information...
  8. pmc The Mouse Genome Database (MGD): premier model organism resource for mammalian genomics and genetics
    Judith A Blake
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Nucleic Acids Res 39:D842-8. 2011
    ..MGD) is the community model organism database for the laboratory mouse and the authoritative source for phenotype and functional annotations of mouse genes...
  9. pmc Identification of a CpG island methylator phenotype that defines a distinct subgroup of glioma
    Houtan Noushmehr
    USC Epigenome Center, University of Southern California, Los Angeles, CA 90033, USA
    Cancer Cell 17:510-22. 2010
    ..concerted hypermethylation at a large number of loci, indicating the existence of a glioma-CpG island methylator phenotype (G-CIMP). We validated G-CIMP in a set of non-TCGA glioblastomas and low-grade gliomas...
  10. ncbi Targeted gene expression as a means of altering cell fates and generating dominant phenotypes
    A H Brand
    Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115
    Development 118:401-15. 1993
    ..We have directed expression of an activated form of the Dras2 protein, resulting in dominant eye and wing defects that can be used in screens to identify other members of the Dras2 signal transduction pathway...
  11. ncbi The transcription factor snail controls epithelial-mesenchymal transitions by repressing E-cadherin expression
    A Cano
    Instituto de Investigaciones Biomedicas, Arturo Duperier 4, 28029 Madrid, Spain
    Nat Cell Biol 2:76-83. 2000
    ..Epithelial cells that ectopically express Snail adopt a fibroblastoid phenotype and acquire tumorigenic and invasive properties...
  12. pmc Population genomics of domestic and wild yeasts
    Gianni Liti
    Institute of Genetics, Queen s Medical Centre, University of Nottingham, Nottingham NG7 2UH, UK
    Nature 458:337-41. 2009
  13. ncbi A unified mixed-model method for association mapping that accounts for multiple levels of relatedness
    Jianming Yu
    Institute for Genomic Diversity, Cornell University, Ithaca, New York 14853, USA
    Nat Genet 38:203-8. 2006
    ..As this new method crosses the boundary between family-based and structured association samples, it provides a powerful complement to currently available methods for association mapping...
  14. 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
  15. doi The miR-200 family and miR-205 regulate epithelial to mesenchymal transition by targeting ZEB1 and SIP1
    Philip A Gregory
    Hanson Institute and Division of Human Immunology, Institute of Medical and Veterinary Science, Adelaide, SA 5000, Australia
    Nat Cell Biol 10:593-601. 2008
    ..EMT, expression of these microRNAs was found to be lost in invasive breast cancer cell lines with mesenchymal phenotype. Expression of the miR-200 family was also lost in regions of metaplastic breast cancer specimens lacking E-..
  16. 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
    ..Approximately 70 new entries are added and 700 entries are updated per month. OMIM is expanding content and organization in response to shifting biological paradigms and advancing biotechnology...
  17. pmc A whole-cell computational model predicts phenotype from genotype
    Jonathan R Karr
    Graduate Program in Biophysics, Stanford University, Stanford, CA 94305, USA
    Cell 150:389-401. 2012
    ..We conclude that comprehensive whole-cell models can be used to facilitate biological discovery...
  18. pmc Patterns and rates of exonic de novo mutations in autism spectrum disorders
    Benjamin M Neale
    Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    Nature 485:242-5. 2012
    ..Despite the challenge posed by such models, results from de novo events and a large parallel case-control study provide strong evidence in favour of CHD8 and KATNAL2 as genuine autism risk factors...
  19. ncbi Functional profiling of the Saccharomyces cerevisiae genome
    Guri Giaever
    Stanford Genome Technology Center, Stanford University, Palo Alto, California 94304, USA
    Nature 418:387-91. 2002
    ..Conventional genetic screens exhibit biases, and genes contributing to a phenotype are often missed...
  20. pmc Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS
    Dan L Nicolae
    Department of Medicine, University of Chicago, Chicago, Illinois, United States of America
    PLoS Genet 6:e1000888. 2010
  21. pmc A conditional knockout resource for the genome-wide study of mouse gene function
    William C Skarnes
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Nature 474:337-42. 2011
  22. pmc Genome-wide association study of blood pressure and hypertension
    Daniel Levy
    National Heart, Lung, and Blood Institute s Framingham Heart Study, Framingham, Massachusetts, USA
    Nat Genet 41:677-87. 2009
    ..Identifying genes associated with blood pressure advances our understanding of blood pressure regulation and highlights potential drug targets for the prevention or treatment of hypertension...
  23. pmc Common variants at 30 loci contribute to polygenic dyslipidemia
    Sekar Kathiresan
    Cardiovascular Research Center and Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Nat Genet 41:56-65. 2009
    ..These results suggest that the cumulative effect of multiple common variants contributes to polygenic dyslipidemia...
  24. ncbi Association of anxiety-related traits with a polymorphism in the serotonin transporter gene regulatory region
    K P Lesch
    Department of Psychiatry, University of Wurzburg, Fuchsleinstrasse 15, 97080 Wurzburg, Germany
    Science 274:1527-31. 1996
  25. pmc Genome-wide association analysis of metabolic traits in a birth cohort from a founder population
    Chiara Sabatti
    Department of Human Genetics and Los Angeles, Los Angeles, California 90095, USA
    Nat Genet 41:35-46. 2009
    ..The association observed between low-density lipoprotein and an infrequent variant in AR suggests the potential of such a cohort for identifying associations with both common, low-impact and rarer, high-impact quantitative trait loci...
  26. pmc Predicting deleterious amino acid substitutions
    P C Ng
    Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA
    Genome Res 11:863-74. 2001
    ..A higher proportion of substitutions predicted to be deleterious by SIFT gives an affected phenotype than substitutions predicted to be deleterious by substitution scoring matrices in three test cases...
  27. ncbi JAZ repressor proteins are targets of the SCF(COI1) complex during jasmonate signalling
    Bryan Thines
    Institute of Biological Chemistry, Washington State University, Pullman, Washington 99164 6340, USA
    Nature 448:661-5. 2007
  28. ncbi ALSPAC--the Avon Longitudinal Study of Parents and Children. I. Study methodology
    J Golding
    Institute of Child Health, University of Bristol, UK
    Paediatr Perinat Epidemiol 15:74-87. 2001
    ..The study has an open policy in regard to collaboration within strict confidentiality rules...
  29. ncbi Jack of all trades, master of some? On the role of phenotypic plasticity in plant invasions
    Christina L Richards
    Department of Ecology and Evolution, Stony Brook University, 650 Life Sciences, Stony Brook, NY 11794 5245, USA
    Ecol Lett 9:981-93. 2006
    ..This new framework can be applied when testing both ecological or evolutionary oriented hypotheses, and therefore promises to bridge the gap between the two perspectives...
  30. pmc Multipotent cell lineages in early mouse development depend on SOX2 function
    Ariel A Avilion
    Division of Developmental Genetics, MRC National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, UK
    Genes Dev 17:126-40. 2003
    ..5 days postcoitum. Our data suggest that maternal components could be involved in establishing early cell fate decisions and that a combinatorial code, requiring SOX2 and OCT4, specifies the first three lineages present at implantation...
  31. pmc A high-throughput gene knockout procedure for Neurospora reveals functions for multiple transcription factors
    Hildur V Colot
    Department of Genetics, Dartmouth Medical School, HB7400, Hanover, NH 03755, USA
    Proc Natl Acad Sci U S A 103:10352-7. 2006
    ..Overall, the methodology, which achieves high-throughput gene disruption at an efficiency >90% in this filamentous fungus, promises to be applicable to other eukaryotic organisms that have a low frequency of homologous recombination...
  32. pmc Emergence of resistant human immunodeficiency virus type 1 in patients receiving fusion inhibitor (T-20) monotherapy
    Xiping Wei
    Howard Hughes Medical Institute, Department of Medicine, University of Alabama at Birmingham, 35294, USA
    Antimicrob Agents Chemother 46:1896-905. 2002
    ..These findings provide the first evidence for the rapid emergence of clinical resistance to a novel class of HIV-1 entry inhibitors and may be relevant to future treatment strategies involving these agents...
  33. ncbi Potent and specific genetic interference by double-stranded RNA in Caenorhabditis elegans
    A Fire
    Carnegie Institution of Washington, Department of Embryology, Baltimore, Maryland 21210, USA
    Nature 391:806-11. 1998
  34. pmc Genome-wide association study of 107 phenotypes in Arabidopsis thaliana inbred lines
    Susanna Atwell
    Molecular and Computational Biology, University of Southern California, Los Angeles, California 90089, USA
    Nature 465:627-31. 2010
    ..Our study demonstrates the feasibility of GWA studies in A. thaliana and suggests that the approach will be appropriate for many other organisms...
  35. ncbi The endophenotype concept in psychiatry: etymology and strategic intentions
    Irving I Gottesman
    Department of Psychiatry, University of Minnesota Medical School, Minneapolis 55454, USA
    Am J Psychiatry 160:636-45. 2003
    ..The authors discuss the etymology and strategy behind the use of endophenotypes in neuropsychiatric research and, more generally, in research on other diseases with complex genetics...
  36. pmc Genetic identity, biological phenotype, and evolutionary pathways of transmitted/founder viruses in acute and early HIV-1 infection
    Jesus F Salazar-Gonzalez
    University of Alabama at Birmingham, Birmingham, AL 35294, USA
    J Exp Med 206:1273-89. 2009
    ..These findings reveal viral properties associated with mucosal HIV-1 transmission and a limited set of rapidly evolving adaptive mutations driven primarily, but not exclusively, by early cytotoxic T cell responses...
  37. doi Exome sequencing as a tool for Mendelian disease gene discovery
    Michael J Bamshad
    Department of Pediatrics, University of Washington, Health Sciences Building RR349, 1959 NE Pacific Street, Seattle, Washington 98195 6320, USA
    Nat Rev Genet 12:745-55. 2011
    ..These advances also set the stage for applying exome and whole-genome sequencing to facilitate clinical diagnosis and personalized disease-risk profiling...
  38. ncbi Listening to silence and understanding nonsense: exonic mutations that affect splicing
    Luca Cartegni
    Cold Spring Harbor Laboratory, PO Box 100, Cold Spring Harbor, New York 11724, USA
    Nat Rev Genet 3:285-98. 2002
    ..As the splicing mechanisms that depend on exonic signals are elucidated, new therapeutic approaches to treating certain genetic diseases can begin to be explored...
  39. pmc From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus
    Kiran Musunuru
    Cardiovascular Research Center and Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    Nature 466:714-9. 2010
    ..We also demonstrate that common noncoding DNA variants identified by GWASs can directly contribute to clinical phenotypes...
  40. pmc Efficient control of population structure in model organism association mapping
    Hyun Min Kang
    Department of Computer Science, University of California, Los Angeles, California 90095 1596, USA
    Genetics 178:1709-23. 2008
    ..An R package implementation and webserver of our EMMA method are publicly available...
  41. ncbi Extension of life-span by introduction of telomerase into normal human cells
    A G Bodnar
    Geron Corporation, Menlo Park, CA 94025, USA
    Science 279:349-52. 1998
    ..The ability to maintain normal human cells in a phenotypically youthful state could have important applications in research and medicine...
  42. ncbi Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database
    Audrey Petitjean
    Group of Molecular Carcinogenesis and Biomarkers, International Agency for Research on Cancer IARC, World Health Organization, Lyon, France
    Hum Mutat 28:622-9. 2007
    ..that contribute to the occurrence of mutational "hotspots" in different cancer types and to the phenotype of tumors...
  43. pmc Senescence-associated secretory phenotypes reveal cell-nonautonomous functions of oncogenic RAS and the p53 tumor suppressor
    Jean Philippe Coppe
    Life Sciences Division, Lawrence Berkeley National Laboratory, Berkeley, California, USA
    PLoS Biol 6:2853-68. 2008
    ..This senescence-associated secretory phenotype (SASP) developed slowly over several days and only after DNA damage of sufficient magnitude to induce senescence...
  44. pmc Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts
    Yurii S Aulchenko
    1 Department of Epidemiology and Biostatistics, Erasmus University Medical Center, P O Box 2040, 3000 CA Rotterdam, The Netherlands 2 These authors contributed equally to this work
    Nat Genet 41:47-55. 2009
    ..001) and coronary heart disease incidence (P = 0.04). The genetic risk score improves the screening of high-risk groups of dyslipidemia over classical risk factors...
  45. pmc Epigenetic differences arise during the lifetime of monozygotic twins
    Mario F Fraga
    Epigenetics Laboratory, Spanish National Cancer Centre CNIO, Melchor Fernandez Almagro 3, 28029 Madrid, Spain
    Proc Natl Acad Sci U S A 102:10604-9. 2005
    ..These findings indicate how an appreciation of epigenetics is missing from our understanding of how different phenotypes can be originated from the same genotype...
  46. pmc The architecture of gene regulatory variation across multiple human tissues: the MuTHER study
    Alexandra C Nica
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom
    PLoS Genet 7:e1002003. 2011
    ..Our results underline the need to account for the complexity of eQTL tissue-specificity in an effort to assess consequences of such variants for complex traits...
  47. pmc The NCBI dbGaP database of genotypes and phenotypes
    Matthew D Mailman
    National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, Maryland 20892 6510, USA
    Nat Genet 39:1181-6. 2007
    The National Center for Biotechnology Information has created the dbGaP public repository for individual-level phenotype, exposure, genotype and sequence data and the associations between them...
  48. pmc Phenotypic and molecular characterization of the claudin-low intrinsic subtype of breast cancer
    Aleix Prat
    Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, 27599, USA
    Breast Cancer Res 12:R68. 2010
    ..Here, we comprehensively characterize the recently identified claudin-low tumor subtype...
  49. doi Structural variation in the human genome and its role in disease
    Paweł Stankiewicz
    Department of Molecular, Baylor College of Medicine, Houston, Texas 77030, USA
    Annu Rev Med 61:437-55. 2010
    ..Both recombination- and replication-based mechanisms for CNV formation have been described...
  50. pmc Leukemic IDH1 and IDH2 mutations result in a hypermethylation phenotype, disrupt TET2 function, and impair hematopoietic differentiation
    Maria E Figueroa
    Weill Cornell Medical College, New York, NY 10065, USA
    Cancer Cell 18:553-67. 2010
    ..Finally, either expression of mutant IDH1/2 or Tet2 depletion impaired hematopoietic differentiation and increased stem/progenitor cell marker expression, suggesting a shared proleukemogenic effect...
  51. pmc Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA
    Rudolf S N Fehrmann
    Department of Genetics, University Medical Center Groningen and University of Groningen, Groningen, The Netherlands
    PLoS Genet 7:e1002197. 2011
    ..We identified 18 pairs of unlinked SNPs associated with the same phenotype and affecting expression of the same trans-gene (21 times more than expected, P<10(-16))...
  52. ncbi Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice
    L Mangiarini
    Division of Medical and Molecular Genetics, UMDS, Guy s Hospital, London, United Kingdom
    Cell 87:493-506. 1996
    ..Transgenic mice exhibit a progressive neurological phenotype that exhibits many of the features of HD, including choreiform-like movements, involuntary stereotypic movements,..
  53. pmc The chemical genomic portrait of yeast: uncovering a phenotype for all genes
    Maureen E Hillenmeyer
    Stanford Genome Technology Center, Stanford University, Palo Alto, CA 94304, USA
    Science 320:362-5. 2008
    Genetics aims to understand the relation between genotype and phenotype. However, because complete deletion of most yeast genes ( approximately 80%) has no obvious phenotypic consequence in rich medium, it is difficult to study their ..
  54. pmc Transposable elements: targets for early nutritional effects on epigenetic gene regulation
    Robert A Waterland
    Department of Radiation Oncology, Duke University Medical Center, Durham, NC 27710, USA
    Mol Cell Biol 23:5293-300. 2003
    ..dietary methyl supplementation of a/a dams with extra folic acid, vitamin B(12), choline, and betaine alter the phenotype of their A(vy)/a offspring via increased CpG methylation at the A(vy) locus and that the epigenetic ..
  55. pmc CD133 expression is not restricted to stem cells, and both CD133+ and CD133- metastatic colon cancer cells initiate tumors
    Sergey V Shmelkov
    Howard Hughes Medical Institute, Ansary Center for Stem Cell Therapeutics, and Department of Genetic Medicine, Weill Medical College of Cornell University, New York, New York, USA
    J Clin Invest 118:2111-20. 2008
  56. pmc Advances in autism genetics: on the threshold of a new neurobiology
    Brett S Abrahams
    Neurology Department, and Semel Institute for Neuroscience and Behaviour, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California 90095 1769 USA
    Nat Rev Genet 9:341-55. 2008
    ..Systems biology approaches, including array-based expression profiling, are poised to provide additional insights into this group of disorders, in which heterogeneity, both genetic and phenotypic, is emerging as a dominant theme...
  57. pmc Saccharomyces Genome Database provides mutant phenotype data
    Stacia R Engel
    Department of Genetics, Stanford University, Stanford, CA, USA
    Nucleic Acids Res 38:D433-6. 2010
    ..Here we describe how published phenotypes and genetic interaction data are annotated and displayed in SGD...
  58. ncbi The phosphatidylinositol 3-Kinase AKT pathway in human cancer
    Igor Vivanco
    Department of Medicine and Molecular Biology Institute, UCLA School of Medicine, 11 935 Factor Building, 10833 LeConte Avenue, Los Angeles, California 90095, USA
    Nat Rev Cancer 2:489-501. 2002
  59. ncbi Drosophila pink1 is required for mitochondrial function and interacts genetically with parkin
    Ira E Clark
    Nature 441:1162-6. 2006
    ..The role of the pink1-parkin pathway in regulating mitochondrial function underscores the importance of mitochondrial dysfunction as a central mechanism of Parkinson's disease pathogenesis...
  60. ncbi Concise review: mesenchymal stem cells: their phenotype, differentiation capacity, immunological features, and potential for homing
    Giselle Chamberlain
    Leopold Muller Arthritis Research Centre, School of Medicine, Keele University, Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, Shrops SY10 7AG, UK
    Stem Cells 25:2739-49. 2007
    ..The current review describes what is known about MSCs and their capacity to home to tissues together with the associated molecular mechanisms involving chemokine receptors and adhesion molecules...
  61. pmc ZFIN: enhancements and updates to the Zebrafish Model Organism Database
    Yvonne Bradford
    ZFIN, 5291 University of Oregon, Eugene, OR 97403 5291, USA
    Nucleic Acids Res 39:D822-9. 2011
    ..Here, we describe recent additions to ZFIN including (i) enhanced access to images, (ii) genomic features, (iii) genome browser, (iv) transcripts, (v) antibodies and (vi) a community wiki for protocols and antibodies...
  62. pmc Phenotypic profiling of the human genome by time-lapse microscopy reveals cell division genes
    Beate Neumann
    MitoCheck Project Group, European Molecular Biology Laboratory EMBL, Meyerhofstrasse 1, D 69117 Heidelberg, Germany
    Nature 464:721-7. 2010
    ..As part of the Mitocheck consortium, this study provides an in-depth analysis of cell division phenotypes and makes the entire high-content data set available as a resource to the community...
  63. pmc CellProfiler: image analysis software for identifying and quantifying cell phenotypes
    Anne E Carpenter
    Whitehead Institute for Biomedical Research, Cambridge, MA 02142, USA
    Genome Biol 7:R100. 2006
  64. pmc Human breast cancer cell lines contain stem-like cells that self-renew, give rise to phenotypically diverse progeny and survive chemotherapy
    Christine M Fillmore
    Department of Genetics, Sackler School, Tufts University School of Medicine, Harrison Avenue, Boston, Massachusetts 02111, USA
    Breast Cancer Res 10:R25. 2008
    ..We embarked on this study hypothesizing that breast cancer cell lines would contain analogous hierarchical differentiation programs to those found in primary breast tumors...
  65. pmc PPAR-γ is a major driver of the accumulation and phenotype of adipose tissue Treg cells
    Daniela Cipolletta
    Division of Immunology, Department of Microbiology and Immunobiology, Harvard Medical School, Boston, Massachusetts 02115, USA
    Nature 486:549-53. 2012
    ..regulator' of adipocyte differentiation, as a crucial molecular orchestrator of VAT Treg cell accumulation, phenotype and function...
  66. pmc Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism
    Stephan J Sanders
    Program on Neurogenetics, Yale University School of Medicine, 230 South Frontage Road, New Haven, CT 06520, USA
    Neuron 70:863-85. 2011
    ..4 × 10(-7)). We estimate there are 130-234 ASD-related CNV regions in the human genome and present compelling evidence, based on cumulative data, for association of rare de novo events at 7q11.23, 15q11.2-13.1, 16p11.2, and Neurexin 1...
  67. doi Stochastic switching as a survival strategy in fluctuating environments
    Murat Acar
    Department of Physics, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA
    Nat Genet 40:471-5. 2008
    ..Each phenotype was designed to confer a growth advantage over the other phenotype in a certain environment...
  68. ncbi Frailty in older adults: evidence for a phenotype
    L P Fried
    Center on Aging and Health, The John Hopkins Medical Institutions, Baltimore, Maryland 21205, USA
    J Gerontol A Biol Sci Med Sci 56:M146-56. 2001
    ..A standardized definition has not yet been established...
  69. ncbi Premature ageing in mice expressing defective mitochondrial DNA polymerase
    Aleksandra Trifunovic
    Department of Medical Nutrition, Karolinska Institutet, Novum, Karolinska University Hospital, S 141 86 Stockholm, Sweden
    Nature 429:417-23. 2004
    ..Here we show that the knock-in mice develop an mtDNA mutator phenotype with a threefold to fivefold increase in the levels of point mutations, as well as increased amounts of deleted ..
  70. pmc p53 activation by knockdown technologies
    Mara E Robu
    University of Minnesota, Minneapolis, Minnesota, United States of America
    PLoS Genet 3:e78. 2007
    ..p53 inhibition could potentially be applicable to other systems to suppress off-target effects caused by other knockdown technologies...
  71. ncbi Tumor stem cells derived from glioblastomas cultured in bFGF and EGF more closely mirror the phenotype and genotype of primary tumors than do serum-cultured cell lines
    Jeongwu Lee
    Neuro Oncology Branch, National Cancer Institute, National Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA
    Cancer Cell 9:391-403. 2006
    ..These findings suggest that TSCs may be a more reliable model than many commonly utilized cancer cell lines for understanding the biology of primary human tumors...
  72. doi Whole-genome sequencing of multiple Arabidopsis thaliana populations
    Jun Cao
    Max Planck Institute for Developmental Biology, Tubingen, Germany
    Nat Genet 43:956-63. 2011
    ..thaliana diverged from its closest relative 10 million years ago with the spectrum observed in the laboratory. Recent species-wide selective sweeps are rare, and potentially deleterious mutations are more common in marginal populations...
  73. ncbi Molecular regulation of vascular smooth muscle cell differentiation in development and disease
    Gary K Owens
    Dept of Molecular Physiology and Biological Physics, Univ of Virginia School of Medicine, 415 Lane Rd, Medical Research Building 5, Rm 1220, PO Box 801394, Charlottesville, VA 22908, USA
    Physiol Rev 84:767-801. 2004
    ..Indeed, the SMC is capable of major changes in its phenotype in response to changes in local environmental cues including growth factors/inhibitors, mechanical influences, ..
  74. ncbi Specific effects of microRNAs on the plant transcriptome
    Rebecca Schwab
    Department of Molecular Biology, Max Planck Institute for Developmental Biology, 72076 Tubingen, Germany
    Dev Cell 8:517-27. 2005
    ..This finding unifies the view of plant miRNA action...
  75. pmc Identification of human triple-negative breast cancer subtypes and preclinical models for selection of targeted therapies
    Brian D Lehmann
    Department of Biochemistry, Vanderbilt Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA
    J Clin Invest 121:2750-67. 2011
    ..These data may be useful in biomarker selection, drug discovery, and clinical trial design that will enable alignment of TNBC patients to appropriate targeted therapies...
  76. 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
    ..b>Phenotype ontologies were developed to capture and compare phenotypes within the context of a single species...
  77. ncbi Genomic instability and aging-like phenotype in the absence of mammalian SIRT6
    Raul Mostoslavsky
    Howard Hughes Medical Institute, The Children s Hospital, CBR Institute for Biomedical Research, Harvard University Medical School, Boston, MA 02115, USA
    Cell 124:315-29. 2006
    ..We conclude that one function of SIRT6 is to promote normal DNA repair, and that SIRT6 loss leads to abnormalities in mice that overlap with aging-associated degenerative processes...
  78. pmc Polarization of tumor-associated neutrophil phenotype by TGF-beta: "N1" versus "N2" TAN
    Zvi G Fridlender
    Thoracic Oncology Research Laboratory, 1016B ARC, University of Pennsylvania, Philadelphia, PA 19104 6160, USA
    Cancer Cell 16:183-94. 2009
    ..Together, these data suggest that TGF-beta within the tumor microenvironment induces a population of TAN with a protumor phenotype. TGF-beta blockade results in the recruitment and activation of TANs with an antitumor phenotype.
  79. doi Embryonic lethal phenotype reveals a function of TDG in maintaining epigenetic stability
    Daniel Cortázar
    Department of Biomedicine, Institute of Biochemistry and Genetics, University of Basel, 4048 Basel, Switzerland
    Nature 470:419-23. 2011
    ..We find that, unlike other DNA glycosylases, TDG is essential for embryonic development, and that this phenotype is associated with epigenetic aberrations affecting the expression of developmental genes...
  80. ncbi Controlling the false discovery rate in behavior genetics research
    Y Benjamini
    Department of Statistics and O R, The Sackler Faculty of Exact Sciences, Tel Aviv University, Tel Aviv, Israel
    Behav Brain Res 125:279-84. 2001
    ..We explain the FDR criterion, and present two simple procedures that control the FDR. We demonstrate their increased power when used in the above two studies...
  81. ncbi Tensional homeostasis and the malignant phenotype
    Matthew J Paszek
    Department of Bioengineering, University of Pennsylvania, Philadelphia, 19104, USA
    Cancer Cell 8:241-54. 2005
    ..Thus, ERK and Rho constitute part of an integrated mechanoregulatory circuit linking matrix stiffness to cytoskeletal tension through integrins to regulate tissue phenotype.
  82. pmc ALDH1 is a marker of normal and malignant human mammary stem cells and a predictor of poor clinical outcome
    Christophe Ginestier
    Department of Internal Medicine, Comprehensive Cancer Center, University of Michigan, Ann Arbor, MI 48109, USA
    Cell Stem Cell 1:555-67. 2007
    ..These findings offer an important new tool for the study of normal and malignant breast stem cells and facilitate the clinical application of stem cell concepts...
  83. pmc Hundreds of variants clustered in genomic loci and biological pathways affect human height
    Hana Lango Allen
    Genetics of Complex Traits, Peninsula College of Medicine and Dentistry, University of Exeter, Exeter EX1 2LU, UK
    Nature 467:832-8. 2010
    ..and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but ..
  84. pmc FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization
    Hsiang Yu Yuan
    Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan
    Nucleic Acids Res 34:W635-41. 2006
    ..We have been using FASTSNP for 2 years and FASTSNP enables us to discover a novel promoter polymorphism. FASTSNP is available at
  85. pmc ClinVar: public archive of relationships among sequence variation and human phenotype
    Melissa J Landrum
    National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, 8600 Rockville Pike, Bethesda, MD 20894, USA
    Nucleic Acids Res 42:D980-5. 2014 Each ClinVar record represents the submitter, the variation and the phenotype, i.e. the unit that is assigned an accession of the format SCV000000000.0...
  86. pmc The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease
    Peter N Robinson
    Institute for Medical Genetics, Charite Universitatsmedizin Berlin, 13353 Berlin, Germany
    Am J Hum Genet 83:610-5. 2008
    ..Therefore, we have developed a Human Phenotype Ontology (HPO) with over 8000 terms representing individual phenotypic anomalies and have annotated all clinical ..
  87. ncbi Identification of a cancer stem cell in human brain tumors
    Sheila K Singh
    The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
    Cancer Res 63:5821-8. 2003
    ..The identification of a BTSC provides a powerful tool to investigate the tumorigenic process in the central nervous system and to develop therapies targeted to the BTSC...
  88. ncbi Fatty acid synthase and the lipogenic phenotype in cancer pathogenesis
    Javier A Menendez
    Translational Research Unit, Catalan Institute of Oncology ICO, Health Services Division of Catalonia, Girona Biomedical Research Institute IdIBGi, Medical Oncology, Josep Trueta University Hospital of Girona, 17, 007 Girona, Catalonia, Spain
    Nat Rev Cancer 7:763-77. 2007
    ..FASN, a nearly-universal druggable target in many human carcinomas and their precursor lesions, offers new therapeutic opportunities for metabolically treating and preventing cancer...
  89. pmc Genetics and beyond--the transcriptome of human monocytes and disease susceptibility
    Tanja Zeller
    Medizinische Klinik und Poliklinik, Johannes Gutenberg Universitat Mainz, Mainz, Germany
    PLoS ONE 5:e10693. 2010
  90. pmc IDH1 mutation is sufficient to establish the glioma hypermethylator phenotype
    Sevin Turcan
    Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA
    Nature 483:479-83. 2012
    ..Glioblastomas and other cancers with the CpG island methylator phenotype (CIMP) constitute a subset of tumours with extensive epigenomic aberrations and a distinct biology...
  91. ncbi Descriptive analysis of estrogen receptor (ER)-negative, progesterone receptor (PR)-negative, and HER2-negative invasive breast cancer, the so-called triple-negative phenotype: a population-based study from the California cancer Registry
    Katrina R Bauer
    Public Health Institute California Cancer Registry, Sacramento, California 95815 4402, USA
    Cancer 109:1721-8. 2007
    ..The triple-negative phenotype is important because of its relation to the basal-like subtype of breast cancer.
  92. ncbi Ingestion of bacterially expressed dsRNAs can produce specific and potent genetic interference in Caenorhabditis elegans
    L Timmons
    Department of Embryology, Carnegie Institution of Washington, 115 West University Parkway, Baltimore, MD 21210, USA
    Gene 263:103-12. 2001
  93. pmc The miR-200 family determines the epithelial phenotype of cancer cells by targeting the E-cadherin repressors ZEB1 and ZEB2
    Sun Mi Park
    The Ben May Department for Cancer Research, The University of Chicago, Chicago, Illinois 60637, USA
    Genes Dev 22:894-907. 2008
    ..Conversely, inhibition of miR-200 reduced E-cadherin expression, increased expression of Vimentin, and induced EMT. Our data identify miR-200 as a powerful marker and determining factor of the epithelial phenotype of cancer cells.
  94. doi Natural variation in Ghd7 is an important regulator of heading date and yield potential in rice
    Weiya Xue
    National Key Laboratory of Crop Genetic Improvement, National Centre of Plant Gene Research Wuhan, Huazhong Agricultural University, Wuhan 430070, China
    Nat Genet 40:761-7. 2008
    ..Natural mutants with reduced function enable rice to be cultivated in temperate and cooler regions. Thus, Ghd7 has played crucial roles for increasing productivity and adaptability of rice globally...
  95. pmc Mouse genomic variation and its effect on phenotypes and gene regulation
    Thomas M Keane
    The Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1HH, UK
    Nature 477:289-94. 2011
    ..These sequences provide a starting point for a new era in the functional analysis of a key model organism...
  96. doi The genetic architecture of maize flowering time
    Edward S Buckler
    U S Department of Agriculture USDA Agricultural Research Service USDA ARS, USA
    Science 325:714-8. 2009
    ..Thus, a simple additive model accurately predicts flowering time for maize, in contrast to the genetic architecture observed in the selfing plant species rice and Arabidopsis...
  97. pmc A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
    Santhosh Girirajan
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA
    Nat Genet 42:203-9. 2010
    ..Analysis of other microdeletions with variable expressivity indicates that this two-hit model might be more generally applicable to neuropsychiatric disease...
  98. ncbi Snail, Zeb and bHLH factors in tumour progression: an alliance against the epithelial phenotype?
    Hector Peinado
    Departamento de Bioquimica, Facultad de Medicina, Universidad Autonoma de Madrid UAM, Instituto de Investigaciones Biomedicas Alberto Sols CSIC UAM, Arturo Duperier 4, 28029 Madrid, Spain
    Nat Rev Cancer 7:415-28. 2007
  99. ncbi Systematic functional analysis of the Caenorhabditis elegans genome using RNAi
    Ravi S Kamath
    Wellcome Trust Cancer Research UK Institute and Department of Genetics, University of Cambridge, Tennis Court Road, Cambridge CB2 1QR, UK
    Nature 421:231-7. 2003
    ..We identified mutant phenotypes for 1,722 genes, about two-thirds of which were not previously associated with a phenotype. We find that genes of similar functions are clustered in distinct, multi-megabase regions of individual ..
  100. pmc Highly specific gene silencing by artificial microRNAs in Arabidopsis
    Rebecca Schwab
    Department of Molecular Biology, Max Planck Institute for Developmental Biology, 72076 Tubingen, Germany
    Plant Cell 18:1121-33. 2006
    ..The design principles for amiRNAs have been generalized and integrated into a Web-based tool (
  101. ncbi Bacterial persistence as a phenotypic switch
    Nathalie Q Balaban
    Laboratory of Living Matter and Center for Studies in Physics and Biology, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA
    Science 305:1622-5. 2004
    ..Inherent heterogeneity of bacterial populations may be important in adaptation to fluctuating environments and in the persistence of bacterial infections...

Research Grants80

    Keri Hammel; Fiscal Year: 2012
    ..No treatment will be provided as part of this protocol. Title: Genotype-Phenotype Study of Patients with Plaquenil(Registered Trademark)-Induced Retinal Toxicity, with Evaluation of the ABCA4 ..
    Keri Hammel; Fiscal Year: 2013
    ..No treatment will be provided as part of this protocol. Title: Genotype-Phenotype Study of Patients with Plaquenil(Registered Trademark)-Induced Retinal Toxicity, with Evaluation of the ABCA4 ..
  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
    ..We will develop computational algorithms that integrate genotype, gene expression and phenotype data to construct models that describe how sequence variation perturbs the regulatory network, alters signal ..
  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. Prevention of Complications in Thalassemia
    Elliott P Vichinsky; Fiscal Year: 2011
    ..newborns who have undergone DNA and genetic modifier diagnosis has enabled us to better understand the genotype/phenotype correlations20-23...
  8. Mice Humanized with Hepatocytes and iPS Cells from Patients with Metabolic Diseas
    Stephen C Strom; Fiscal Year: 2010
    ..and fibrosis in human patients requiring whole organ transplants, yet the knockout mouse is nearly without a phenotype. While many patients with alpha-1-antitrypsin (A1AT) deficiency develop liver fibrosis/cirrhosis many times ..
  9. Lauren Endres; Fiscal Year: 2014 Abh8-/- MEFs caused by corrupted DNA repair Since Abh8-/- MEFs have an impaired growth and colony forming phenotype, the levels of DNA damage will be assessed in Abh8-/- MEFs relative to their wildtype counterparts...
    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...
  11. Cory Teuscher; Fiscal Year: 2014
    ..SJL/J mice exhibit another Hrh1-linked phenotype, spontaneous histamine sensitivity (Shs)...
  12. Physiological role of PRDM16 in brown fat development and energy balance
    Patrick Seale; Fiscal Year: 2011
    ..These results indicate that a transcriptional unit containing c/EBPp and PRDM16 drives the brown adipose phenotype. Aim 2: We investigate the physiological requirement for PRDI\/I16 in BAT and whole body metabolism by creating ..
  13. Emilio B Gonzalez; Fiscal Year: 2014
    ..monocytes] through domain V and trigger an intracellular signaling and a pro-coagulant and pro-inflammatory phenotype [i e...
  14. NICOLE RENEE TARTAGLIA; Fiscal Year: 2015
    ..therapy in early adolescent males with KS/XXY and (2) investigate genetic factors influencing the clinical phenotype and response to testosterone therapy in KS/XXY, including androgen-receptor (AR) polymorphisms and parent-of-..
  15. Role of Txnip in adapting fuel metabolism to nutritional state
    SIMON HUI; Fiscal Year: 2013
    ..will be expressed in TKO fibroblasts to test if correct AMPK signalling could rescue the respiration defective phenotype. Aim 4 is to determine how Txnip modulates mitochondrial function...
  16. Non-viral Genetic Modification of Antigen-presenting Cells in Allografts
    Wilson S Meng; Fiscal Year: 2011
    ..The phenotype of donor DCs dictates the fate of transplants in recipients...
  17. Neil W Kowall; Fiscal Year: 2014
    ..We will also test the effects of LSD1 inhibitors on the behavioral and neuropathological phenotype of G93A mice...
  18. Lung Lysyl Oxidase Regulation by Metal Ion Homeostasis
    Wande Li; Fiscal Year: 2013
    ..Previous studies by this lab investigating the phenotype change from Cd sensitive to Cd resistant of rat lung fibroblasts (RFL6) illustrated downregulation of LO by Cd ..
  19. The role of Fli1 in T cell function and the pathogenesis of lupus
    Tamara K Nowling; Fiscal Year: 2011
    ..factor Fli1 clearly has effects on the immune system and the pathogenesis of lupus as evidenced by the immune phenotype of Fli1 transgenic mice and the profound effect of Fli1 heterozygosity on a mouse model of lupus...
  20. RALPH FRANK FREGOSI; Fiscal Year: 2016
    ..Importantly, recent studies document that the main respiratory phenotype in nicotine-exposed human neonates is a higher incidence of obstructive sleep apnea...
  21. Cellular &Inflammatory Pathways in Ashtma &Allergic Diseases: From IgE to Cells
    LAWRENCE BARRY SCHWARTZ; Fiscal Year: 2012
    ..expressed on the surface of skin MCTC cells;and finding Syk-deficiency in basophils with the non-releaser phenotype and in mast cells after antigen desensitization in vitro...
  22. Michael Demetriou; Fiscal Year: 2014
    ..reduce CTLA-4 affinity for galectins and indeed, they act cooperatively to limit CTLA-4 surface levels, a phenotype rescued by metabolic supplementation to UDP-GlcNAc biosynthesis...
  23. Translational Machinery in Stress Signaling and Tumor Suppression
    THOMAS J contact BEGLEY; Fiscal Year: 2010
    ..Similarly, a variant of T- HEp3 that reprograms into a non-tumorigenic phenotype (D-HEp3) has detectable levels of the TRM9 transcript...
  24. Genetic and physiological causes of inherited Vascular and Metabolic Diseases
    Arya Mani; Fiscal Year: 2013
    ..In vitro studies have indicated that these mutations impair Wnt signaling. Genotype phenotype correlation showed that the mutations impact number of the metabolic phenotypes that are present in these ..
  25. Statin modulation of immunotherapy for Alzheimer disease
    Jun Tan; Fiscal Year: 2012 the brain, as well as by slowing the maturation of the microglia into the pro-inflammatory antigen presenting phenotype. In addition, lovastatin-mediated disruption of CD40 signaling should enhance the A( clearing properties of A( ..
  26. Biology and Pathologies of Type V Collagen
    Daniel S Greenspan; Fiscal Year: 2013
    ..allele has also been created by the principal investigator's lab, and appears to have a more pronounced phenotype than the Col5a3-nulls, providing a model that should facilitate determining the biological roles of the 13(V) ..
  27. Vitamin D and Estrogen Action in Bone: Concerted Role for hnRNPs in the C Family
    John S Adams; Fiscal Year: 2013
    ..Our investigation of this "experiment of nature" and that of an adolescent human female with a similar phenotype led us to the discovery of a novel means for vitamin D and estrogen resistance in primates, including man...
    RUTH M STEWARD; Fiscal Year: 2010
    ..High levell cycle control. We have found that pannier, encoding a GATA factor, has the opposite lymph gland phenotype of zfrp8 and that the two genes interact genetically...
  29. Skeletal Muscle. Ca Release Control Inside the Sarcoplasmic Reticulum.
    Eduardo Rios; Fiscal Year: 2013
    ..Mid-range signaling is affected in fatigue and in an MH-like phenotype of mice lacking calsequestrin...
  30. Transgenesis and Xenotransplantation
    Jorge A Piedrahita; Fiscal Year: 2013
    ..Both lines can be easily propagated, and distributed, and the pSCID phenotype induced when the two lines are crossed. Aim2. To develop a pig hosting a human immune system. Aim 2a...
    Adrian R Krainer; Fiscal Year: 2010
    ..and phenotypic-risk assessment in the clinic, yet there is much room for improvement in predicting genotype-phenotype correlations that involve aberrant splicing or NMD...
  32. Hepcidin-based screening for infantile iron deficiency
    Mark D Fleming; Fiscal Year: 2010
    ..biallelic mutations in the liver-specific transmembrane serine protease, TMPRSS6, in individuals with the phenotype opposite to hereditary hemochromatosis-a disorder termed iron refractory ID anemia (IRIDA)...
  33. TLR4 Inhibition to Reduce Cerebral Ischemia Reperfusion Injury
    LORI ANN HOLLE; Fiscal Year: 2011
    ..receptors that activate multiple signaling molecules controlling gene transcription leading to an inflammatory phenotype. This very complex system evolved over 700 million years to protect uni- and multi- cellular organisms from ..
  34. MATTHEW PETER COGGINS; Fiscal Year: 2014
    ..The goals of this proposal are to define the role of IKKB in this baseline cardiac phenotype and in a model of pressure overload induced hypertrophy...
  35. Novel DNA-Launched Attenuated Vaccine for VEE Virus
    PETER M PUSHKO; Fiscal Year: 2012
    ..method to introduce additional genetic changes into the prototype TC-83 i-DNA in order to secure attenuated phenotype and to generate i-DNA clones with high levels of safety and immunogenicity...
  36. Haifei Shi; Fiscal Year: 2015
    ..We previously described the phenotype of mice lacking leptin receptors selectively in POMC neurons and identified sex differences in energy balance ..
  37. Thalachallour Mohanakumar; Fiscal Year: 2015
    ..We will also determine the frequency of lung infiltrating B cells with an autoimmune phenotype both in bronchioalveolar lavage and blood...
  38. The Relationship Between STK39, Salt Sensitivity, and HCTZ-induced BP Response
    YEN PEI CHRISTY CHANG; Fiscal Year: 2010
    ..that increase STK39 expression might alter renal salt handling and the BP set point, generating a sodium avid phenotype that may be amenable to correction with thiazide diuretics...
  39. Osteocalcin and Metabolic Risk Factors. The Framingham Study
    Yi Hsiang Hsu; Fiscal Year: 2011
    ..We will use already collected phenotype data and available high-density 550K Affymetrix genotyping data...
  40. JoAnn Sekiguchi; Fiscal Year: 2014
    ..Despite the prevalence of ILD as a cause of death in A-T patients, the underlying mechanisms that lead to this phenotype are not well understood...
  41. John H Postlethwait; Fiscal Year: 2016
    ..Aim 1 is to identify genetic factors linked to sex phenotype in F2 mapping crosses...
  42. ARNULF HANS WERNER KOEPPEN; Fiscal Year: 2014
    ..Furthermore, the neuropathological phenotype of some spinocerebellar ataxias (SCA) includes lesions of DRG...
  43. Yaya Wang; Fiscal Year: 2014
    ..In Aim 3, I will compare gene expression and surface phenotype after TLR activation in human peripheral mononuclear cells from LypW carriers and non-carriers...
  44. David P Gavin; Fiscal Year: 2016
    ..We will attempt to induce the alcohol-drinking phenotype of C57 mice in the DBA strain by in vivo knockdown of GADD45b in the NAc shell via siRNA strategy...
  45. Genetic Studies of Optic Atrophy
    Taosheng Huang; Fiscal Year: 2012
    ..mutation of dOpa1, ortholog of human OPA1, caused by a P-element insertion results in no discernable eye phenotype under a microscope, but is instead associated with a shortened lifespan, whereas the homozygous mutation results ..
  46. Molecular Mechanism of Protein Kinase Cbeta-Mediated Cholesterol Homeostasis
    Kamal D Mehta; Fiscal Year: 2010
    ..changes in the adipose gene expression and whether overexpression of adipose PKCbeta rescues the phenotype or adipose-specific PKCbeta deficiency alone can account for this phenotype...
  47. Exome re-sequencing candidate loci for familial essential tremor
    Barry E Kosofsky; Fiscal Year: 2012
    ..families and a variant in the dopamine receptor D3 gene in 23 French families are associated with an ET phenotype. ETM2 loci are linked to a disease allele in four American families...
  48. Functional Analysis of the Dual Specificity Kinase NEK1 in Mammalian Meiosis
    JOANNA KIM HOLLOWAY; Fiscal Year: 2011
    ..nucleotide insertion and a subsequent premature stop, resulting in truncation of the protein product and a null phenotype. Two specific aims are proposed: (1) to perform an in-depth study of the relationship between FKBP6, NEK1 and ..
  49. Epigenomic Events in Development of the Locus Coeruleus Noradrenergic Neurons
    Jan Krzysztof Blusztajn; Fiscal Year: 2012
    ..g. GABA, dopamine, serotonin, acetylcholine) or neuropeptide (e.g. galanin, NPY, VIP, substance P) phenotype. A large collection of the relevant EGFP-expressing transgenic mouse lines has been generated and is available ..
  50. Nitric Oxide in Hemodialysis AV Fistula Maturation
    Richard A Cohen; Fiscal Year: 2010
    ..Using explant cultures of venous SMC, that have a dedifferentiated phenotype similar to that of cells responsible for neointimal growth in newly created fistulas, we will evaluate ..
  51. The genetics and pathophysiology of impaired Wnt signaling in metabolic syndrome
    Arya Mani; Fiscal Year: 2012
    ..for mutations in LRP6, in order to identify the spectrum and prevalence of LRP6 mutation and establish genotype-phenotype correlations...
  52. Cell signaling as a leukemia biomarker
    ..Thus, cell signaling may provide rapid genetic inferences. To test this idea, we propose to correlate phenotype (signaling) and genotype, determined by high throughput sequencing...
  53. Clifford A Lowell; Fiscal Year: 2016
    ..Deletion of SHP-1 in both neutrophils and macrophages (using LysM-Cre) results in no phenotype at all (despite the presence of activated neutrophils)...
  54. Robert W Burgess; Fiscal Year: 2016
    ..the mutant protein, whereas a loss-of-function allele that eliminates Gars expression does not cause a dominant phenotype despite lower overall levels of enzyme activity...
  55. TIMOTHY L SITA; Fiscal Year: 2016 knockdown MGMT expression in GBM cells and subsequently administer TMZ to recapitulate the improved survival phenotype observed in patients with a methylated MGMT promoter region...
  56. Rebecca A Simmons; Fiscal Year: 2016
    ..the epigenetic profile in key cells including the germline, resulting in altered gene expression, an abnormal phenotype, and transgenerational transmission of the phenotype...
  57. Keith T Wilson; Fiscal Year: 2016
    ..pylori colonization and gastritis;B) GMac phenotype and function;and C) Adaptive immunity in gastric tissues, splenocytes, and lymphocytes. 2...
    Raymond F Novak; Fiscal Year: 2010
    ..catalyzes the metabolism of carcinogens, therapeutic agents, eicosanoids, and fatty acids, reflects an altered phenotype, and is a biomarker of progressive hepatic disease development with loss of CYP2E1 expression reflecting an ..
  59. Cellular and Animal Models of FUS Mutations in ALS
    Eric J Huang; Fiscal Year: 2013
    ..In Aim 2, we propose to characterize if mice expressing FUS-R521C or FUS-P525L develop motor behavioral phenotype and motor neuron pathology similar to patients with corresponding mutations...
  60. Targeting AP-1 proteins in COPD
    SEKHAR M POTHIREDDY; Fiscal Year: 2010
    ..demonstrated that overexpression of Fra-1 induces matrix metalloproteinase gene expression and a fibroblastic phenotype in type II epithelial cells...
  61. Tibor T Glant; Fiscal Year: 2014 either knockout or IVSC mice, carrying structurally and/or functionally altered gene(s) and altered disease phenotype. PUBLIC HEALTH RELEVANCE: Rheumatoid arthritis (RA) is a complex joint disease affecting approximately 1 % of ..
  62. Role of leptin-mediated PI3 Kinase signaling on reproductive control
    Carol Fuzeti Elias; Fiscal Year: 2013
    ..Deletion of LepR-mediated STAT3 signaling (LRbS1138 s/s) recapitulates the db/db metabolic phenotype, producing hyperphagic obesity and diabetes...
  63. Anisa Shaker; Fiscal Year: 2016
    ..To determine whether the observed phenotype in Epim-/- mice is a consequence of BM derived cells, we will perform GFP labeled Epim-/- and WT BM rescue of ..
  64. Mitochondrial and Nuclear Mechanisms of Estrogen Receptor-Mediated Cardioprotecti
    DONNA HOPE KORZICK; Fiscal Year: 2012
    ..and ischemia/reperfusion (I/R injury), while selective engagement of non-genomic ER pathways can rescue this phenotype. We further propose that non-genomic ER signaling results in protein kinase C5 (PKC5) activation, a well-known ..
  65. Phosphotyrosine signaling pathways controlling tracheal tube geometry
    KAI G ZINN; Fiscal Year: 2013
    ..appropriate tubular shapes? We obtained an entry point into this problem when we discovered a unique tracheal phenotype caused by a double mutation eliminating both of the Type III receptor tyrosine phosphatases (RPTPs), Ptp4E and ..
  66. Eph/ephrin signaling in craniofacial development and disease
    JEFFREY OHMANN BUSH; Fiscal Year: 2010
    ..identified gain of function of the transcription factor Tbx10 as being causative to the cleft lip and palate phenotype in the Dancer mice and identified one of a very few known genetic causes for this phenotype in mice...
  67. Mouse models for the functional analysis of asthma-associated human polymorphisms
    Donata Vercelli; Fiscal Year: 2009
    ..variants in the Th2 cytokine locus are strongly associated with allergic inflammation, but their impact on the phenotype is far from understood because the genetic heterogeneity and complexity existing within outbred populations ..
    Eric Wieschaus; Fiscal Year: 2000
    ..Most alleles of arm previously identified were selected based on its segment polarity phenotype. The various functions of arm in cell signalling and adhesion uncovered by Dr...
  69. The impact of Helicobacter pylori infection on inflammatory bowel disease suscept
    John Kao; Fiscal Year: 2009
    ..pylori colonization induces regulatory T cells (Tregs) by maintaining toleragenic phenotype of myeloid dendritic cells (DCs) thus decreases host susceptibility to the development of IBD...
  70. Hereditary Spastic Paraplegia due to SPG3A/atlastin mutation
    John Fink; Fiscal Year: 2009
    ..Our proposal builds on this progress and focuses on 1) defining the SPG3A HSP phenotype and correlating clinical variatipn with SPG3A mutations and HSP modifying-gene polymorphisms;2) understanding ..
  71. Biomarker Prediction of Gleason Upgrading
    Bruce J Trock; Fiscal Year: 2010 surveillance as an alternative to immediate treatment depends on how well the biopsy can capture the phenotype of the tumor in the whole prostate...
    Sally Rogers; Fiscal Year: 2001
    ..overall goal of this Program Project is to define more clearly what is both familial and specific in the autism phenotype at three levels of analysis "brain, neuropsychology, and behavior" through a series of converging tests...
    David Riches; Fiscal Year: 1991
    ..g. double stranded RNA, zymosan particles, LPS) which trigger the expression of the activated phenotype. The purpose of this proposal is to investigate the mechanisms that positively and negatively regulate the ..
  74. Genetic Analysis of Idiopathic-Type Curvature in Model Teleosts
    Felix Breden; Fiscal Year: 2009
    ..failed so far, due to variability within human pedigrees, and the lack of an animal genetic model with a similar phenotype. Despite many efforts, no causative genes have been discovered for this syndrome...
  75. Nox Isoforms and Vascular Cell Phenotype
    John Keaney; Fiscal Year: 2009
    ..This flux of reactive oxygen species has proven to be a major determinant of vascular phenotype as a function of age, consistent with the "Free Radical Theory" of aging...