sequence deletion

Summary

Summary: Deletion of sequences of nucleic acids from the genetic material of an individual.

Top Publications

  1. ncbi MMEJ repair of double-strand breaks (director's cut): deleted sequences and alternative endings
    Mitch McVey
    Department of Biology, Tufts University, 165 Packard Avenue, Medford, MA 02155, USA
    Trends Genet 24:529-38. 2008
  2. ncbi Gene disruption in Escherichia coli: TcR and KmR cassettes with the option of Flp-catalyzed excision of the antibiotic-resistance determinant
    P P Cherepanov
    Universitat Oldenburg, Germany
    Gene 158:9-14. 1995
  3. ncbi Natural selection shapes genome-wide patterns of copy-number polymorphism in Drosophila melanogaster
    J J Emerson
    Department of Ecology and Evolution, University of Chicago, Chicago, IL 60637, USA
    Science 320:1629-31. 2008
  4. ncbi Local dystrophin restoration with antisense oligonucleotide PRO051
    Judith C van Deutekom
    Department of Human and Clinical Genetics, Leiden University Medical Center, The Netherlands
    N Engl J Med 357:2677-86. 2007
  5. pmc Paired-end mapping reveals extensive structural variation in the human genome
    Jan O Korbel
    Molecular Biophysics and Biochemistry Department, Yale University, New Haven, CT 06520, USA
    Science 318:420-6. 2007
  6. pmc Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
    Tom Walsh
    Department of Medicine, University of Washington, Seattle, WA 98195, USA
    Proc Natl Acad Sci U S A 107:12629-33. 2010
  7. ncbi A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
    M E Curran
    Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City 84112
    Cell 80:795-803. 1995
  8. pmc Mitochondrial DNA deletions are associated with non-B DNA conformations
    Joana Damas
    Institute of Molecular Pathology and Immunology, University of Porto IPATIMUP, Rua Dr Roberto Frias s n, 4200 465 Porto, Portugal
    Nucleic Acids Res 40:7606-21. 2012
  9. pmc Detection of clinically relevant exonic copy-number changes by array CGH
    Philip M Boone
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Hum Mutat 31:1326-42. 2010
  10. ncbi Large deletions within the first intron in VRN-1 are associated with spring growth habit in barley and wheat
    Daolin Fu
    Department of Plant Sciences, University of California, One Shields Av, Davis, CA 95616, USA
    Mol Genet Genomics 273:54-65. 2005

Detail Information

Publications275 found, 100 shown here

  1. ncbi MMEJ repair of double-strand breaks (director's cut): deleted sequences and alternative endings
    Mitch McVey
    Department of Biology, Tufts University, 165 Packard Avenue, Medford, MA 02155, USA
    Trends Genet 24:529-38. 2008
    ..We propose a mechanistic model for MMEJ and highlight important questions for future research...
  2. ncbi Gene disruption in Escherichia coli: TcR and KmR cassettes with the option of Flp-catalyzed excision of the antibiotic-resistance determinant
    P P Cherepanov
    Universitat Oldenburg, Germany
    Gene 158:9-14. 1995
    ..This system was applied in the construction of an E. coli endA deletion mutation which can be transduced by P1 to the genetic background of interest using TcR as a marker. The transductant can then be freed of the TcR if required...
  3. ncbi Natural selection shapes genome-wide patterns of copy-number polymorphism in Drosophila melanogaster
    J J Emerson
    Department of Ecology and Evolution, University of Chicago, Chicago, IL 60637, USA
    Science 320:1629-31. 2008
    ..Among duplications, those overlapping exons or introns, as well as those falling on the X chromosome, seem to be subject to stronger purifying selection...
  4. ncbi Local dystrophin restoration with antisense oligonucleotide PRO051
    Judith C van Deutekom
    Department of Human and Clinical Genetics, Leiden University Medical Center, The Netherlands
    N Engl J Med 357:2677-86. 2007
    ..We explored the safety, adverse-event profile, and local dystrophin-restoring effect of a single, intramuscular dose of an antisense oligonucleotide, PRO051, in patients with this disease...
  5. pmc Paired-end mapping reveals extensive structural variation in the human genome
    Jan O Korbel
    Molecular Biophysics and Biochemistry Department, Yale University, New Haven, CT 06520, USA
    Science 318:420-6. 2007
    ..The breakpoint junction sequences of more than 200 SVs were determined with a novel pooling strategy and computational analysis. Our analysis provided insights into the mechanisms of SV formation in humans...
  6. pmc Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
    Tom Walsh
    Department of Medicine, University of Washington, Seattle, WA 98195, USA
    Proc Natl Acad Sci U S A 107:12629-33. 2010
    ..This approach enables widespread genetic testing and personalized risk assessment for breast and ovarian cancer...
  7. ncbi A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
    M E Curran
    Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City 84112
    Cell 80:795-803. 1995
    ..In one kindred, the mutation arose de novo. Northern blot analyses show that HERG is strongly expressed in the heart. These data indicate that HERG is LQT2 and suggest a likely cellular mechanism for torsade de pointes...
  8. pmc Mitochondrial DNA deletions are associated with non-B DNA conformations
    Joana Damas
    Institute of Molecular Pathology and Immunology, University of Porto IPATIMUP, Rua Dr Roberto Frias s n, 4200 465 Porto, Portugal
    Nucleic Acids Res 40:7606-21. 2012
    ..Overall, the data presented in this study suggest that non-B DNA conformations are a key element of the mtDNA deletion process...
  9. pmc Detection of clinically relevant exonic copy-number changes by array CGH
    Philip M Boone
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Hum Mutat 31:1326-42. 2010
    ..In summary, we demonstrate the utility of a custom-designed, exon-targeted oligonucleotide array to detect intragenic copy-number changes in patients with various clinical phenotypes...
  10. ncbi Large deletions within the first intron in VRN-1 are associated with spring growth habit in barley and wheat
    Daolin Fu
    Department of Plant Sciences, University of California, One Shields Av, Davis, CA 95616, USA
    Mol Genet Genomics 273:54-65. 2005
    ..Epistatic interactions between VRN-H2 and the VRN-H1 allele with the intron 1 deletion suggest that the deleted region may include a recognition site for the flowering repression mediated by the product of the VRN-H2 gene of barley...
  11. pmc Mechanisms of intron gain and loss in Drosophila
    Paul Yenerall
    Department of Biological Sciences, University of Pittsburgh, Pittsburgh, PA 15260, USA
    BMC Evol Biol 11:364. 2011
    ..Therefore, understanding their mechanism of evolution after their initial fixation in eukaryotes is pertinent to understanding the means by which organisms develop greater regulation and complexity...
  12. ncbi Mitochondrial DNA mutations and mitochondrial DNA depletion in gastric cancer
    Chew Wun Wu
    Department of Surgery, Taipei Veterans General Hospital, Taiwan, Republic of China
    Genes Chromosomes Cancer 44:19-28. 2005
    ..018). Our results suggest that somatic mtDNA mutations and mtDNA depletion occur in gastric cancer and that mtDNA depletion is involved in carcinogenesis and/or cancer progression of gastric carcinoma...
  13. ncbi Homozygous defect in HIV-1 coreceptor accounts for resistance of some multiply-exposed individuals to HIV-1 infection
    R Liu
    Aaron Diamond AIDS Research Center, Rockefeller University New York, New York 10016, USA
    Cell 86:367-77. 1996
    ..These findings indicate the importance of CKR-5 in HIV-1 transmission and suggest that targeting the HIV-1-CKR-5 interaction may provide a means of preventing or slowing disease progression...
  14. pmc Involvement of an actomyosin contractile ring in Saccharomyces cerevisiae cytokinesis
    E Bi
    Department of Biology, University of North Carolina, Chapel Hill, North Carolina 27599 3280, USA
    J Cell Biol 142:1301-12. 1998
    ..cerevisiae. In its absence, cytokinesis can still be completed by a process (possibly localized cell-wall synthesis leading to septum formation) that appears to require septin function and to be facilitated by F-actin...
  15. pmc Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR
    Langping He
    Department of Neurology, The Medical School, University of Newcastle upon Tyne, Framlington Place, Newcastle upon Tyne NE2 4HH, UK
    Nucleic Acids Res 30:e68. 2002
    ....
  16. pmc Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice
    Henna Tyynismaa
    Department of Neurology and Programme of Neurosciences, University of Helsinki, 00290, Helsinki, Finland
    Proc Natl Acad Sci U S A 102:17687-92. 2005
    ..This model is a valuable tool for therapy development and testing for adult-onset mitochondrial disorders...
  17. ncbi Identification of the breast cancer susceptibility gene BRCA2
    R Wooster
    Section of Molecular Carcinogenesis, Haddow Laboratories, Sutton Surrey, UK
    Nature 378:789-92. 1995
    ..Each mutation causes serious disruption to the open reading frame of the transcriptional unit. The results indicate that this is the BRCA2 gene...
  18. ncbi Identification of an imprinting control region affecting the expression of all transcripts in the Gnas cluster
    Christine M Williamson
    MRC Mammalian Genetics Unit, Harwell, Oxfordshire OX11 0RD, UK
    Nat Genet 38:350-5. 2006
    ..Uniquely, the Nespas DMR acts on the downstream ICR at exon 1A to regulate tissue-specific imprinting of the Gnas gene...
  19. pmc Population analysis of large copy number variants and hotspots of human genetic disease
    Andy Itsara
    Department of Genome Sciences, School of Medicine, University of Washington, Seattle, WA 98195, USA
    Am J Hum Genet 84:148-61. 2009
    ..g., 3q29, 16p12, and 15q25.2) for further investigation. This study provides one of the first analyses of large, rare (0.1%-1%) CNVs in the general population, with insights relevant to future analyses of genetic disease...
  20. ncbi Mitochondrial genome instability and mtDNA depletion in human cancers
    Hsin Chen Lee
    Department of Pharmacology, School of Medicine, National Yang Ming University, Taipei, Taiwan 112, Republic of China
    Ann N Y Acad Sci 1042:109-22. 2005
    ..Taken together, our findings suggest that instability in the D-loop region of mtDNA, together with the decrease in mtDNA copy number, is involved in the carcinogenesis of human cancers...
  21. pmc Large recurrent microdeletions associated with schizophrenia
    Hreinn Stefansson
    CNS Division, deCODE Genetics, Sturlugata 8, IS 101 Reykjavik, Iceland
    Nature 455:232-6. 2008
    ..CNV analysis may also point the way to the identification of additional and more prevalent risk variants in genes and pathways involved in schizophrenia...
  22. pmc Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
    Jan P Schouten
    MRC Holland, Hudsonstraat 68, 1057SN Amsterdam, The Netherlands
    Nucleic Acids Res 30:e57. 2002
    ..Probe target sequences are small (50-70 nt). The prerequisite of a ligation reaction provides the opportunity to discriminate single nucleotide differences...
  23. ncbi Pre-S mutant surface antigens in chronic hepatitis B virus infection induce oxidative stress and DNA damage
    Yi Hsuan Hsieh
    Institute of Basic Medical Sciences, College of Medicine, National Cheng Kung University, Tainan 70101, Taiwan
    Carcinogenesis 25:2023-32. 2004
    ..These results indicate that pre-S1/S2 mutant HBsAg, which make up GGHs, induce oxidative DNA damage and mutations in hepatocytes in the late stages of HBV infection...
  24. pmc The nature of telomere fusion and a definition of the critical telomere length in human cells
    Rebecca Capper
    Department of Pathology, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, United Kingdom
    Genes Dev 21:2495-508. 2007
    ..The distinct error-prone mutational profile of fusion between critically shortened telomeres in human cells was reminiscent of Ku-independent microhomology-mediated end-joining...
  25. ncbi Deletion analysis of the SUP35 gene of the yeast Saccharomyces cerevisiae reveals two non-overlapping functional regions in the encoded protein
    M D Ter Avanesyan
    Institute of Experimental Cardiology, Cardiology Research Centre, Moscow, Russia
    Mol Microbiol 7:683-92. 1993
    ..Thus, the data obtained define two domains within the Sup35 protein which are responsible for different functions...
  26. ncbi Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia
    Charles G Mullighan
    Department of Pathology, St Jude Children s Research Hospital, Memphis, Tennessee 38105, USA
    Nature 446:758-64. 2007
    ..Moreover, these data demonstrate the power of high-resolution, genome-wide approaches to identify new molecular lesions in cancer...
  27. pmc Synthesis-dependent microhomology-mediated end joining accounts for multiple types of repair junctions
    Amy Marie Yu
    Department of Biology, Tufts University, Medford, MA 02155, USA
    Nucleic Acids Res 38:5706-17. 2010
    ..This suggests that a single underlying mechanism could be responsible for all three repair product types. Genetic analysis indicates that SD-MMEJ is Ku70, Lig4 and Rad51-independent but impaired in mus308 (POLQ) mutants...
  28. ncbi Mutation-specific antibodies for the detection of EGFR mutations in non-small-cell lung cancer
    Jian Yu
    Cell Signaling Technology, Inc, Danvers, Massachusetts, USA
    Clin Cancer Res 15:3023-8. 2009
    ....
  29. ncbi Mutational equilibrium model of genome size evolution
    Dmitri A Petrov
    Department of Biological Sciences, Stanford University, California 94025, USA
    Theor Popul Biol 61:531-44. 2002
    ..Both the origin of mutational biases and the adaptive consequences of such a mode of evolution of genome size are discussed...
  30. pmc A new evolutionary scenario for the Mycobacterium tuberculosis complex
    R Brosch
    Unite de Genetique Moleculaire Bacterienne, Laboratoire de Génomique des Microorganismes Pathogènes, and Centre National de Référence des Mycobactéries, Institut Pasteur, 25 28 Rue du Docteur Roux, 75724 Paris Cedex 15, France
    Proc Natl Acad Sci U S A 99:3684-9. 2002
    ..bovis lineage separated from the M. tuberculosis lineage. This observation suggests that the common ancestor of the tubercle bacilli resembled M. tuberculosis or M. canettii and could well have been a human pathogen already...
  31. ncbi High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease
    Andreas Bender
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne, NE2 4HH, UK
    Nat Genet 38:515-7. 2006
    ..Our studies suggest that somatic mtDNA deletions are important in the selective neuronal loss observed in brain aging and in Parkinson disease...
  32. ncbi Methylation of histone h3 at lysine 9 targets programmed DNA elimination in tetrahymena
    Sean D Taverna
    Department of Biochemistry and Molecular Genetics, University of Virginia Health System, Charlottesville, VA 22908, USA
    Cell 110:701-11. 2002
    ..These results extend the range of H3(Lys9)Me involvement in chromatin activities outside transcriptional regulation and also strengthen the link between heterochromatin formation and programmed DNA elimination...
  33. pmc Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy
    T Sullivan
    Advanced BioScience Laboratories Basic Research Program, National Cancer Institute Frederick Cancer Research and Development Center, Maryland 21702, USA
    J Cell Biol 147:913-20. 1999
    ..Mice lacking the A-type lamins exhibit tissue-specific alterations to their nuclear envelope integrity and emerin distribution. In skeletal and cardiac muscles, this is manifest as a dystrophic condition related to EDMD...
  34. pmc Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome
    Iain Moore
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, United Kingdom
    Blood 115:379-87. 2010
    ..In 5 patients mutations were identified: 1 in CFH, 1 in CFI, 1 in CD46, and 2 in C3. The latter observation emphasizes that multiple concurrent factors may be necessary in individual patients for disease manifestation...
  35. ncbi Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans
    Timothy J Aitman
    Physiological Genomics and Medicine Group, MRC Clinical Sciences Centre, Imperial College, London W12 0NN, UK
    Nature 439:851-5. 2006
    ....
  36. pmc DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome
    Timothy J Ley
    Department of Medicine, Washington University School of Medicine, St Louis, Missouri 63108, USA
    Nature 456:66-72. 2008
    ..Our study establishes whole-genome sequencing as an unbiased method for discovering cancer-initiating mutations in previously unidentified genes that may respond to targeted therapies...
  37. pmc An initial map of insertion and deletion (INDEL) variation in the human genome
    Ryan E Mills
    Department of Biochemistry, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Genome Res 16:1182-90. 2006
    ..All INDELs in this study have been deposited into dbSNP and have been integrated into maps of human genetic variation that are available to the research community...
  38. pmc Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease
    Steven A McCarroll
    Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, 185 Cambridge Street, Boston, Massachusetts 02114, USA
    Nat Genet 40:1107-12. 2008
    ..These results suggest that the CD association at IRGM arises from an alteration in IRGM regulation that affects the efficacy of autophagy and identify a common deletion polymorphism as a likely causal variant...
  39. ncbi Lamin a truncation in Hutchinson-Gilford progeria
    Annachiara De Sandre-Giovannoli
    INSERM U491 Génétique Médicale et Développement, Faculte de Medecine Timone, Marseille, France
    Science 300:2055. 2003
  40. ncbi Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
    G Van Goethem
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Born Bunge Foundation, University of Antwerp, Universiteitsplein 1 B 2610 Antwerpen, Belgium
    Nat Genet 28:211-2. 2001
    ..We identified three additional POLG missense mutations compatible with recessive PEO In two nuclear families. POLG is the only DNA polymerase responsible for mtDNA replication...
  41. pmc Role of direct repeat and stem-loop motifs in mtDNA deletions: cause or coincidence?
    Lakshmi Narayanan Lakshmanan
    Institute for Chemical and Bioengineering, ETH Zurich, Zurich, Switzerland
    PLoS ONE 7:e35271. 2012
    ..Taken together, the findings in this study give support for the importance of stable mtDNA misalignments, aided by long DRs, as a major mechanism of deletion formation in long-living, but not in short-living mammals...
  42. pmc Crystal structure of the superfamily 1 helicase from Tomato mosaic virus
    Masaki Nishikiori
    Division of Plant Sciences, National Institute of Agrobiological Sciences, Tsukuba, Ibaraki, Japan
    J Virol 86:7565-76. 2012
    ..Our results provide a structural basis of viral superfamily 1 helicases...
  43. ncbi On the role of RNA amplification in dsRNA-triggered gene silencing
    T Sijen
    Hubrecht Laboratory, Center for Biomedical Genetics, Uppsalalaan 8, 3584 CT, Utrecht, The Netherlands
    Cell 107:465-76. 2001
    ..This amplification mechanism substantially augments the potency of RNAi-based surveillance, while ensuring that the RNAi machinery will focus on expressed mRNAs...
  44. pmc Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia
    Kotoka Nakamura
    Department of Pathology and Laboratory Medicine, UCLA School of Medicine, Los Angeles, California 90095 1732, USA
    Hum Mutat 33:198-208. 2012
    ....
  45. ncbi A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells
    Kim J Krishnan
    Mitochondrial Research Group, School of Neurology, Neurobiology, and Psychiatry, Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK
    Anal Biochem 370:127-9. 2007
  46. ncbi LysK CHAP endopeptidase domain is required for lysis of live staphylococcal cells
    Stephen C Becker
    Animal Biosciences and Biotechnology Laboratory, Animal and Natural Resources Institute, BARC, ARS, USDA, Beltsville, MD 20705 2350, USA
    FEMS Microbiol Lett 294:52-60. 2009
    ..aureus and the coagulase-negative strains. In the checkerboard assay, the CHAP-SH3b fusion achieves the same level of antimicrobial synergy with lysostaphin as the full-length LysK...
  47. pmc Exonuclease function of human Mre11 promotes deletional nonhomologous end joining
    Jing Zhuang
    Department of Radiation Oncology, Vanderbilt University School of Medicine, Vanderbilt Ingram Cancer Center, Nashville, Tennessee 37232 5671, USA
    J Biol Chem 284:30565-73. 2009
    ....
  48. ncbi Fusarium verticillioides chitin synthases CHS5 and CHS7 are required for normal growth and pathogenicity
    Troy M Larson
    Bacterial Foodborne Pathogens and Mycology Research Unit, Agricultural Research Service, U S Department of Agriculture, Peoria, IL 61604 3999, USA
    Curr Genet 57:177-89. 2011
    ..Our results demonstrate that both CHS5 and CHS7 are necessary for proper hyphal growth and pathogenicity of F. verticillioides on maize...
  49. ncbi Lactic acidemia in the pathogenesis of mice carrying mitochondrial DNA with a deletion
    Emi Ogasawara
    Graduate School of Life and Environmental Sciences, University of Tsukuba, 1 1 1 Tennoudai, Tsukuba, Ibaraki 305 8572, Japan
    Hum Mol Genet 19:3179-89. 2010
    ..Our in vivo study also suggested that inhibition of chronic lactic acidemia is a potential strategy for treating some mitochondrial diseases...
  50. ncbi Large BRCA1 and BRCA2 genomic rearrangements in Malaysian high risk breast-ovarian cancer families
    Peter Kang
    Cancer Research Initiatives Foundation, Sime Darby Medical Centre, 2nd Floor, Outpatient Centre, 1 Jalan SS12 1A, Subang Jaya, 47500, Selangor, Malaysia
    Breast Cancer Res Treat 124:579-84. 2010
    ..In conclusion, this study in a multi-ethnic (Malay, Chinese, Indian) cohort suggests that large genomic rearrangements are present at a low frequency but should nonetheless be included in the routine testing for BRCA1 and BRCA2...
  51. ncbi Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity
    Ruxandra Bachmann-Gagescu
    Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA
    Genet Med 12:641-7. 2010
    ..The purpose of this study was to better define the phenotype of this recurrent SH2B1-containing microdeletion in a cohort of phenotypically abnormal patients not selected for obesity...
  52. ncbi A novel functional assay for fungal histidine kinases group III reveals the role of HAMP domains for fungicide sensitivity
    Anna Buschart
    Helmholtz Centre for Infection Research, Department of Biological Systems Analysis, Inhoffenstr 7, 38124 Braunschweig, Germany
    J Biotechnol 157:268-77. 2012
    ..This indicates that the HAMP domains are decisive for the mode of action of the antifungal compounds...
  53. pmc RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia
    Elli Papaemmanuil
    Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, UK
    Nat Genet 46:116-25. 2014
    ..Thus, a remarkably parsimonious mutational process transforms ETV6-RUNX1-positive lymphoblasts, targeting the promoters, enhancers and first exons of genes that normally regulate B cell differentiation. ..
  54. pmc Mechanism of Exonuclease I stimulation by the single-stranded DNA-binding protein
    Duo Lu
    Department of Biomolecular Chemistry, 550 Medical Science Center, 1300 University Avenue, University of Wisconsin School of Medicine and Public Health, Madison, WI 53706 1532, USA
    Nucleic Acids Res 39:6536-45. 2011
    ..Taken together, these studies delineate stimulatory roles for SSB in which protein interactions and ssDNA binding are both important for maximal activity of its protein partners...
  55. pmc The CRISPR/Cas immune system is an operon regulated by LeuO, H-NS, and leucine-responsive regulatory protein in Salmonella enterica serovar Typhi
    L Medina-Aparicio
    Departamento de Microbiologia Molecular, Instituto de Biotecnologia, Universidad Nacional Autonoma de Mexico, Cuernavaca, Morelos 62210, Mexico
    J Bacteriol 193:2396-407. 2011
    ..Typhi. Thus, our work provides evidence that there are multiple modulators involved in the genetic expression of this immune system in S. Typhi IMSS-1...
  56. ncbi Glycoprotein C of equine herpesvirus 4 plays a role in viral binding to cell surface heparan sulfate
    Walid Azab
    Department of Veterinary Microbiology, Graduate School of Agricultural and Life Sciences, The University of Tokyo, 1 1 1 Yayoi, Bunkyo ku, Tokyo 113 8657, Japan
    Virus Res 151:1-9. 2010
    ..These results suggest that, like other herpesviruses, EHV-4 gC plays a role in the interaction of the virus with cellular heparan sulfate. Moreover, gC can protect the virus from complement-mediated neutralization...
  57. pmc The KEEP ON GOING protein of Arabidopsis recruits the ENHANCED DISEASE RESISTANCE1 protein to trans-Golgi network/early endosome vesicles
    Yangnan Gu
    Department of Biology, Indiana University, Bloomington, Indiana 47405 7107, USA
    Plant Physiol 155:1827-38. 2011
    ..Collectively, these data suggest that EDR1 and KEG function together to regulate endocytic trafficking and/or the formation of signaling complexes on TGN/EE vesicles during stress responses...
  58. ncbi Dual localization of fumarase is dependent on the integrity of the glyoxylate shunt
    Neta Regev-Rudzki
    Department of Microbiology and Molecular Genetics, IMRIC, Faculty of Medicine, The Hebrew University, Jerusalem, Israel
    Mol Microbiol 72:297-306. 2009
    ..Specifically, we suggest that metabolites of the glyoxylate shunt act as 'nanosensors' for fumarase subcellular targeting and distribution. The possible mechanisms involved are discussed...
  59. pmc Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening
    Barbara D'haene
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    PLoS Genet 5:e1000522. 2009
    ..4 kb deleted fragment. Overall, this study revealed the smallest distant deletion causing monogenic disease and impacts upon the concept of mutation screening in human disease and developmental disorders in particular...
  60. pmc Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes
    Maja Bucan
    Autism Genetic Resource Exchange, Autism Speaks, Los Angeles, California, United States of America
    PLoS Genet 5:e1000536. 2009
    ..That hundreds of distinct rare variants were each seen only once further highlights complexity in the ASDs and points to the continued need for larger cohorts...
  61. ncbi Genome-wide identification of genes involved in tolerance to various environmental stresses in Saccharomyces cerevisiae
    C Auesukaree
    Department of Biology, Faculty of Science, Mahidol University, Bangkok, Thailand
    J Appl Genet 50:301-10. 2009
    ..The genes identified in this study should be helpful for future research into the molecular mechanisms of stress response...
  62. pmc Possible role of dimerization in human immunodeficiency virus type 1 genome RNA packaging
    Jun ichi Sakuragi
    Department of Viral Infections, Research Institute for Microbial Diseases, Osaka University, Suita City, Japan
    J Virol 77:4060-9. 2003
    ..Therefore, it is suggested that RNA dimerization is a part of RNA packaging, which requires multiple steps...
  63. pmc B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis
    Katharina Hopp
    Department of Biochemistry and Molecular Biology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Hum Mol Genet 20:2524-34. 2011
    ..The fetus inherited an additional likely pathogenic novel missense change to a second MKS gene, CEP290; p.R2210C, suggesting oligogenic inheritance in this disorder...
  64. pmc The NFKB1 ATTG ins/del polymorphism and risk of coronary heart disease in three independent populations
    Ulla Vogel
    National Research Centre for the Working Environment, Copenhagen, Denmark
    Atherosclerosis 219:200-4. 2011
    ..We aimed to investigate the association of the functional ATTG NFKB1 insertion/deletion variant with risk of CHD in three independent prospective studies of generally healthy men and women...
  65. pmc An 11p15 imprinting centre region 2 deletion in a family with Beckwith Wiedemann syndrome provides insights into imprinting control at CDKN1C
    Elizabeth Algar
    Molecular Oncology Laboratory, Murdoch Children s Research Institute, Melbourne, Australia
    PLoS ONE 6:e29034. 2011
    ..Analysis of 94 cases with IC2 loss of methylation revealed that KCNQ1 deletion is a rare cause of loss of maternal methylation, occurring in only 3% of cases, or in 1.5% of BWS overall...
  66. pmc Enterovirus 68 in children with acute respiratory tract infections, Osaka, Japan
    Atsushi Kaida
    Department of Microbiology, Osaka City Institute of Public Health and Environmental Sciences, Tennoji ku, Osaka, Japan
    Emerg Infect Dis 17:1494-7. 2011
    ..These strains had deletions in the 5' untranslated region and were genetically different from reported strains. This virus is associated with respiratory tract infections in Japan...
  67. pmc Terminal amino acids disturb xylanase thermostability and activity
    Liangwei Liu
    Life Science College, Henan Agricultural University, Zhengzhou 450002, China
    J Biol Chem 286:44710-5. 2011
    ....
  68. ncbi The 4977 bp deletion of mitochondrial DNA in human skeletal muscle, heart and different areas of the brain: a useful biomarker or more?
    Christoph Meissner
    Department of Legal Medicine, University Hospital Schleswig Holstein Campus Luebeck, Kahlhorststrasse 31 35, 23562 Lübeck, Germany
    Exp Gerontol 43:645-52. 2008
    ....
  69. ncbi A defined locus control region determinant links chromatin domain acetylation with long-range gene activation
    Yugong Ho
    Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA
    Mol Cell 9:291-302. 2002
    ..These data support a model for long-range gene activation via LCR-mediated targeting and extensive spreading of core histone acetylation...
  70. ncbi Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations
    Hanne Meijers-Heijboer
    Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands
    Nat Genet 31:55-9. 2002
    ....
  71. pmc Balancing selection of a frame-shift mutation in the MRC2 gene accounts for the outbreak of the Crooked Tail Syndrome in Belgian Blue Cattle
    Corinne Fasquelle
    Unit of Animal Genomics, GIGA R, Department of Animal Sciences, Faculty of Veterinary Medicine, University of Liege, Liege, Belgium
    PLoS Genet 5:e1000666. 2009
    ....
  72. pmc The carboxy-terminal Neh3 domain of Nrf2 is required for transcriptional activation
    Paul Nioi
    Schering Plough Research Institute, Kenilworth, NJ 07033, USA
    Mol Cell Biol 25:10895-906. 2005
    ..These data suggest that the Neh3 domain may act as a transactivation domain and that it is possibly involved in interaction with components of the transcriptional apparatus to affect its transcriptional activity...
  73. ncbi Identification of a 1.6 kb genome locus of guinea pig cytomegalovirus required for efficient viral growth in animals but not in cell culture
    Naoki Nozawa
    Department of Virology I, National Institute of Infectious Diseases, 1 23 1 Toyama, Shinjuku ku, Tokyo 162 8640, Japan
    Virology 379:45-54. 2008
    ..6 kb locus. Since one of the ORFs in the locus has a weak sequence similarity with HCMV UL130, which relates to cell tropism, further studies will be required to learn the mechanism for efficient GPCMV growth in animal...
  74. pmc Analyses of LTR-retrotransposon structures reveal recent and rapid genomic DNA loss in rice
    Jianxin Ma
    Department of Biological Sciences, Purdue University, West Lafayette, Indiana 47907, USA
    Genome Res 14:860-9. 2004
    ....
  75. pmc TRBP control of PACT-induced phosphorylation of protein kinase R is reversed by stress
    Aïcha Daher
    Virus Cell Interactions Laboratory, Lady Davis Institute for Medical Research, Montreal, Quebec, Canada
    Mol Cell Biol 29:254-65. 2009
    ..Our results demonstrate that in cells, TRBP controls PACT activation of PKR, an activity that is reversed by stress...
  76. pmc A functional role for transposases in a large eukaryotic genome
    Mariusz Nowacki
    Department of Ecology and Evolutionary Biology, Princeton University, Princeton, NJ 08544, USA
    Science 324:935-8. 2009
    ..This study suggests a new important role in Oxytricha for this large portion of genomic DNA that was previously thought of as junk...
  77. ncbi AgrD-dependent quorum sensing affects biofilm formation, invasion, virulence and global gene expression profiles in Listeria monocytogenes
    Christian U Riedel
    Alimentary Pharmabiotic Centre, University College Cork, Cork, Ireland
    Mol Microbiol 71:1177-89. 2009
    ..The results presented here suggest that peptide sensing plays an important role in the biology of L. monocytogenes, with relevant phenotypes in both the saprophytic and parasitic lifecycles...
  78. ncbi Homologous recombination generates T-loop-sized deletions at human telomeres
    Richard C Wang
    Laboratory for Cell Biology and Genetics, The Rockefeller University, 1230 York Avenue, New York, NY 10021, USA
    Cell 119:355-68. 2004
    ..These findings show that t-loop deletion by HR influences the integrity and dynamics of mammalian telomeres...
  79. pmc Combined deletions of pfhrp2 and pfhrp3 genes result in Plasmodium falciparum malaria false-negative rapid diagnostic test
    Sandrine Houze
    Laboratoire de Parasitologie, AP HP, Hopital Bichat, Paris, France
    J Clin Microbiol 49:2694-6. 2011
    ..Genetic tests showed the deletion of both pfhrp2 and pfhrp3 genes. The detection of two distinct P. falciparum target antigens is then advisable...
  80. ncbi Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms
    Marie Pierre Audrezet
    INSERM U613, Génétique Moléculaire et Génétique Epidémiologique, Centre Hospitalier Universitaire, Brest, France
    Hum Mutat 23:343-57. 2004
    ..The insertion of this ultra-short LINE-1 element (dubbed a "hyphen element") may constitute a novel type of mutation associated with human genetic disease...
  81. ncbi The mPer2 gene encodes a functional component of the mammalian circadian clock
    B Zheng
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nature 400:169-73. 1999
    ..These data provide evidence that an mPer gene functions in the circadian clock, and define mPer2 as a component of the mammalian circadian oscillator...
  82. pmc The SaeR/S gene regulatory system is essential for innate immune evasion by Staphylococcus aureus
    Jovanka M Voyich
    Department of Veterinary Molecular Biology, Montana State University, Bozeman, MT 59717, USA
    J Infect Dis 199:1698-706. 2009
    ..These data provide new insight into how virulence is regulated in S. aureus and associates a specific staphylococcal gene-regulatory system with invasive staphylococcal disease...
  83. pmc The pre-S1 and antigenic loop infectivity determinants of the hepatitis B virus envelope proteins are functionally independent
    Yann Le Duff
    Laboratoire de Virologie, INTS, Paris 75739, France
    J Virol 83:12443-51. 2009
    ..Finally, we showed that C147S, an AGL infectivity-deficient substitution, exerted a dominant-negative effect on infectivity, likely reflecting an involvement of C147 in intermolecular disulfide bonds...
  84. ncbi Functional definition of the mutation cluster region of adenomatous polyposis coli in colorectal tumours
    Eva Maria Kohler
    Nikolaus Fiebiger Center for Molecular Medicine, University Erlangen Nurnberg, Glückstrasse 6, 91054 Erlangen, Germany
    Hum Mol Genet 17:1978-87. 2008
    ..Thus, our data provide a functional definition of the MCR: the APC fragments typical of colon cancer are selected for the presence of a single functional 20R, the first one, and are therefore equivalent relative to beta-catenin binding...
  85. pmc Genomic deletions classify the Beijing/W strains as a distinct genetic lineage of Mycobacterium tuberculosis
    Anthony G Tsolaki
    Division of Infectious Diseases and Geographic Medicine, Stanford University Medical Center, Stanford, California 94305, USA
    J Clin Microbiol 43:3185-91. 2005
    ..tuberculosis...
  86. ncbi FLT3 mutations in the activation loop of tyrosine kinase domain are frequently found in infant ALL with MLL rearrangements and pediatric ALL with hyperdiploidy
    Takeshi Taketani
    Gunma Children s Medical Center, 779 Shimohadoka, Kitatachibana, Gunma 377 8577, Japan
    Blood 103:1085-8. 2004
    ..These results suggested that FLT3-D835/I836 mutations are one of the second genetic events in infant ALL with MLL rearrangements or pediatric ALL with hyperdiploidy...
  87. ncbi Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris
    Frances J D Smith
    Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK
    Nat Genet 38:337-42. 2006
    ..The resultant matrix is cross-linked to form a major component of the cornified cell envelope. We find that loss or reduction of this major structural protein leads to varying degrees of impaired keratinization...
  88. pmc Comprehensive identification of Salmonella enterica serovar typhimurium genes required for infection of BALB/c mice
    Roy R Chaudhuri
    Department of Veterinary Medicine, University of Cambridge, Cambridge, UK
    PLoS Pathog 5:e1000529. 2009
    ..Defined deletion mutants of several novel targets identified in the TMDH screen are effective live vaccines...
  89. ncbi Target genes and regulatory domains of the GAMYB transcriptional activator in cereal aleurone
    F Gubler
    Co operative Research Centre for Plant Science, Canberra City, ACT, Australia
    Plant J 17:1-9. 1999
    ..The same TADs were identified using a heterologous yeast expression system. Together, these results indicate that HvGAMYB has two TADs. These domains are C-terminal to its DNA-binding domain...
  90. pmc The Drosophila GIPC homologue can modulate myosin based processes and planar cell polarity but is not essential for development
    Alexandre Djiane
    Department of Physiology Development and Neuroscience, University of Cambridge, Cambridge, UK
    PLoS ONE 5:e11228. 2010
    ....
  91. pmc Fusion of short telomeres in human cells is characterized by extensive deletion and microhomology, and can result in complex rearrangements
    Boitelo T Letsolo
    Department of Pathology, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
    Nucleic Acids Res 38:1841-52. 2010
    ..The distinct profile that accompanies telomere fusion may be a characteristic of the end-joining processes involved in the fusion event...
  92. ncbi A recurrent mutation in PALB2 in Finnish cancer families
    Hannele Erkko
    Department of Clinical Genetics, University of Oulu and Oulu University Hospital, FIN 90029 OYS, Finland
    Nature 446:316-9. 2007
    ..1592delT truncation allele was observed. These results indicate that PALB2 is a breast cancer susceptibility gene that, in a suitably mutant form, may also contribute to familial prostate cancer development...
  93. pmc Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo
    Qianchuan He
    Department of Microbiology and Molecular Genetics, College of Veterinary Medicine, Michigan State University, East Lansing, MI, USA
    Blood 106:1447-53. 2005
    ..Characterization of canine AMN mutations that cause I-GS establishes the canine model as an ortholog of the human disorder well suited to studies of AMN function and coevolution with cubilin...
  94. pmc A dnaT mutant with phenotypes similar to those of a priA2::kan mutant in Escherichia coli K-12
    Jesse D McCool
    Department of Microbiology, University of Massachusetts, Amherst, Massachusetts 01003, USA
    Genetics 167:569-78. 2004
    ..coli K-12. Instead, this mutant dnaT gene was found to complement the E. coli K-12 dnaT822 mutant phenotypes. The significance of these results is discussed in terms of models for replication restart...
  95. pmc Benzodiazepine-insensitive mice generated by targeted disruption of the gamma 2 subunit gene of gamma-aminobutyric acid type A receptors
    U Gunther
    Institute of Pharmacology, University of Zurich, Switzerland
    Proc Natl Acad Sci U S A 92:7749-53. 1995
    ..The lack of postnatal GABAA receptor regulation by endogenous ligands of BZ sites might contribute to this phenotype...
  96. ncbi Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome
    Jiong Yan
    Department of Molecular and Human Genetics, Houston, Texas, USA
    Am J Med Genet A 140:1531-41. 2006
    ..Furthermore, bioinformatic analyses of the NIPBL protein revealed several novel domains, which may give further clues about potential functions of this protein...
  97. pmc Screening of Streptococcus pneumoniae ABC transporter mutants demonstrates that LivJHMGF, a branched-chain amino acid ABC transporter, is necessary for disease pathogenesis
    Shilpa Basavanna
    Centre for Respiratory Research, Department of Medicine, University College Medical School, Rayne Institute, London, United Kingdom
    Infect Immun 77:3412-23. 2009
    ..These data demonstrate a previously unsuspected role for BCAA transport during infection for S. pneumoniae and provide more evidence that functioning ABC transporters are required for the full virulence of bacterial pathogens...
  98. ncbi The p150 and p60 subunits of chromatin assembly factor I: a molecular link between newly synthesized histones and DNA replication
    P D Kaufman
    Cold Spring Harbor Laboratory, New York 11724, USA
    Cell 81:1105-14. 1995
    ..p150 and p60 form complexes with newly synthesized histones H3 and acetylated H4 in human cell extracts, suggesting that such complexes are intermediates between histone synthesis and assembly onto replicating DNA...
  99. ncbi Increased intracellular H₂O₂ availability preferentially drives glutathione accumulation in vacuoles and chloroplasts
    Guillaume Queval
    Institut de Biologie des Plantes, UMR8618 CNRS, Batiment 630, Université de Paris Sud 11, 91405 Orsay Cedex, France
    Plant Cell Environ 34:21-32. 2011
    ..The data are used to estimate compartment-specific glutathione concentrations under optimal and oxidative stress conditions, and the implications for redox homeostasis and signalling are discussed...
  100. ncbi p120(ctn) binds to the membrane-proximal region of the E-cadherin cytoplasmic domain and is involved in modulation of adhesion activity
    T Ohkubo
    Department of Biochemistry, Faculty of Medicine, Kagoshima University, Kagoshima 890 8520, Japan
    J Biol Chem 274:21409-15. 1999
    ..Together, these results indicate that p120(ctn) is a modulator of E-cadherin-mediated cell adhesion...

Research Grants62

  1. MOLECULAR CORRELATES OF METHOTREXATE IN CHILDHOOD ALL
    Larry Matherly; Fiscal Year: 2007
    ..e) altered hRFC mRNA splice forms, gene sequence variants in the hRFC coding sequence, and a high frequency sequence deletion in a hRFC promoter...
  2. Genetic and Environmental Factors in Deletion Disorders
    ROBERT NICHOLLS; Fiscal Year: 2005
    ..Aim 2. To identify sequence-specific hotspot(s) for chromosome recombination, we will clone and sequence deletion breakpoints using two novel assays, one detecting aberrant HERC2-related transcripts, and sequencing / ..
  3. Vector Targeting for Fracture Repair
    Alan Davis; Fiscal Year: 2002
    ..through the CAR-binding pathway, and by constructing vectors whose fiber carries both the CAR-binding sequence deletion and an OST-PTP-specific antibody sequence and then assessing their ability to target osteoblasts in vitro ..
  4. Studying GrpE: Protein Function, Stability, and Folding
    ANDREW MEHL; Fiscal Year: 2002
    ..Experimentally, a mutational approach will be taken. Specific sequence deletion mutants of GrpE that contain certain regions of the protein will be created and then tested for functions, ..
  5. Gene and Nutrient Etiologies of Human Heart Defects
    Gary M Shaw; Fiscal Year: 2010
    ..Because these defects result in substantial morbidity as well as high emotional and economic costs, further scientific understanding leading to possible prevention would greatly benefit society. ..
  6. EPIGENETIC ACTIVATION OF THE HUMAN GROWTH HORMONE GENE
    Yugong Ho; Fiscal Year: 2007
    ..Such understanding establishes a basis for advances in diagnosis and treatment of endocrine disorders. ..
  7. DOPAMINERGIC AND MUSCARINIC SIGNALING IN THE STRIATUM
    DALTON SURMEIER; Fiscal Year: 2007
    ....
  8. MOLECULAR CHARACTERIZATION OF THE JCPK/BPK LOCUS
    ELIZABETH BRYDA; Fiscal Year: 2003
    ..The completion of this proposal will greatly enhance our understanding of the role and regulation of cPLA2 in cell injury. ..
  9. Hearing loss associated with chromosomal rearrangements
    Kerry Kocher; Fiscal Year: 2007
    ..Analysis of the mice and in situ hybridization studies of the candidate genes in the cochlea will be used to establish the role of these genes in auditory function. ..
  10. DNA SEQUENCES INVOLVED IN THE HEAVY CHAIN SWITCH
    Wesley Dunnick; Fiscal Year: 2006
    ..We will examine the role of the orientation of switch sequences, and hence the role of the unusual complexes between germline transcripts and switch region DNA, in Aim 4. ..
  11. Cognitive Effects of Cerebellar Lesions in Humans
    JEREMY SCHMAHMANN; Fiscal Year: 2006
    ..This study has implications for the recognition and treatment of disorders of higher order function in cerebellar patients. [unreadable] [unreadable]..
  12. RNA aptamers to inhibit natural and evolved RT variants
    Donald Burke; Fiscal Year: 2006
    ..unreadable] [unreadable] [unreadable]..
  13. Host Factors in Susceptibility to Chlamydial Disease
    KYLE RAMSEY; Fiscal Year: 2006
    ....
  14. Therapeutic potential-LXR ligands in Alzheimer's Disease
    Iliya Lefterov; Fiscal Year: 2005
    ..abstract_text> ..
  15. ENAMEL WITHOUT ENAMELIN
    Jan Hu; Fiscal Year: 2007
    ..The findings will establish an appropriate knowledge base for framing future hypotheses concerning the molecular mechanisms by which enamelin controls enamel biomineralization. ..
  16. ABCA1 knock-in mouse model to study molecular pathology of Alzheimer's Disease
    Iliya Lefterov; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  17. Regulatory Interactions of CFTR and ENaC
    Ronald C Rubenstein; Fiscal Year: 2010
    ..These data will promote better understanding of the pathogenesis of not only Cystic Fibrosis lung disease, but also a number of other diseases of the airway, as well as diseases of other secretory epithelia. ..
  18. GENOMIC DELETION AND DUPLICATION COVERAGE IN DROSOPHILA
    Kevin R Cook; Fiscal Year: 2010
    ..Fly geneticists need improved tools to do their work more effectively and we propose to improve the selections of chromosomal deletion and duplication strains so crucial to the success of their projects. ..
  19. Gene-nutrient Etiologies of Neural Tube Defects
    Gary M Shaw; Fiscal Year: 2010
    ..Because NTDs result in substantial morbidity as well as high emotional and economic costs, further scientific understanding leading to possible prevention would greatly benefit society. ..
  20. EFFECTS OF MORPHINE AND ANALOGUES ON CELL METABOLISM
    Eric Simon; Fiscal Year: 2007
    ..This should provide new information and also serve to validate, or find the flaws in, the widely used model of transfected cells expressing non-physiologically high levels of opioid receptors. ..
  21. High Accuracy Single Molecule DNA Sequencing by Synthesis
    John Thompson; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..
  22. Normal and aberrant switch recombination to the murine alpha heavy chain gene
    Wesley Dunnick; Fiscal Year: 2008
    ..The information is also likely to be relevant to normal switch recombination, with implications for better vaccine design. [unreadable] [unreadable] [unreadable]..
  23. Evolutionary Dissection of complex traits
    Stephen Wooding; Fiscal Year: 2008
    ..By applying a combined evolutionary and epidemiological approach, these analyses may shed new light on the relationship between genetic variation, environmental response, and human health. [unreadable] [unreadable] [unreadable]..
  24. INH-induced lysis of the HIV opportunistic infection, M. tuberculosis
    William Jacobs; Fiscal Year: 2008
    ..The knowledge gained by this work will lead to the identification of novel drug targets, strategies to overcome tolerance, and more effective treatments for tuberculosis. ..
  25. Pathophysiologies Involving Hemostasis-related Genes
    Francis Castellino; Fiscal Year: 2008
    ..abstract_text> ..
  26. Development of Statistical Approaches Allowing for Genetic Covariates
    Chih Chieh Wu; Fiscal Year: 2008
    ..The Texas Cancer Genetic Consortium, a Cancer Genetic Network regional center, will provide the breast cancer data. [unreadable] [unreadable] [unreadable]..
  27. Epithelial Na Channels: Structure-Function Studies
    Thomas R Kleyman; Fiscal Year: 2010
    ..Successful completion of the studies proposed in this application will provide a more detailed understanding of key structural features of epithelial sodium channels. ..
  28. STRUCTURE AND DYNAMICS OF HEME PROTEIN ACTIVE SITES
    JAMES SATTERLEE; Fiscal Year: 2005
    ..We shall proceed using modern protein engineering methods combined with x-ray crystallography, kinetics, photothermal methods, equillibrium dynamics methods and NMR spectroscopy. ..
  29. Biomechanical Regulation of Renal Na and K Channels
    THOMAS KLEYMAN; Fiscal Year: 2005
    ..abstract_text> ..
  30. Acellular vaccines against Francisella tularensis
    Wayne Conlan; Fiscal Year: 2005
    ..It is expected that the findings from the proposed studies will be applicable to the development of acellular vaccines against other intracellular respiratory pathogens such as Mycobacterium tuberculosis, and Chlamydia pneumoniae. ..
  31. EBV PATHOGENESIS IN HIV-ASSOCIATED HAIRY LEUKOPLAKIA
    DENNIS WALLING; Fiscal Year: 2003
    ..The results of this study will elucidate molecular mechanisms of EBV pathogenesis in HLP applicable to other EBV-associated diseases, including nasopharyngeal carcinoma and HIV-associated lymphomas. ..
  32. BIOCHEMICAL RESEARCH ON OPIOID RECEPTORS
    Eric Simon; Fiscal Year: 2003
    ..In the final aim, aspects of signal transduction will be studied, including identification of receptor regions involved in G protein activation. ..
  33. UNIQUE TISSUE AND TUMOR PROCESSING FACILITY
    Adi Gazdar; Fiscal Year: 2003
    ..A charge back fee system will recover some of the costs and will be used for future expansion of the Facility, which is anticipated to become self sustaining after five years. ..
  34. EBV and HPV: Oral Infection, Persistence & Pathogenesis
    DENNIS WALLING; Fiscal Year: 2003
    ..abstract_text> ..
  35. 33rd International Narcotics Research Conference (INRC)
    Eric Simon; Fiscal Year: 2002
    ..We feel that participation by many pre and post doctoral students has resulted and is likely to continue to result in recruiting promising young scientists to a career in drug abuse research. ..
  36. FOLATE PATHWAY GENES AND RISK FOR OROFACIAL CLEFTS
    Gary Shaw; Fiscal Year: 2002
    ..abstract_text> ..
  37. RECOMBINANT BCG MALARIA VACCINES
    William Jacobs; Fiscal Year: 2001
    ..The immunization studies are designed to test the recombinant BCG's expressing MSP-1 for protection and their abilities to induce a priming immunization that can confer protection upon infection with the malarial parasites. ..
  38. TYPHOON 8600 VARIABLE MODE IMAGER
    ELIZABETH BRYDA; Fiscal Year: 2001
    ..This, in turn, will facilitate the ability of researchers from our institution in contributing important knowledge toward a number of human health-related issues that are long-term goals of our grant-funded research. ..
  39. 34th Annual International Narcotics Research Conference
    Eric Simon; Fiscal Year: 2003
    ..We feel that participation by many pre and post doctoral students has resulted and is likely to continue to result in recruiting promising young scientists to a career in drug abuse research. ..
  40. MONOAMINERGIC MODULATION OF PREFRONTAL CORTEX
    DALTON SURMEIER; Fiscal Year: 2004
    ..Achieving these specific aims will provide the molecular and cellular framework necessary to begin building an accurate, integrative model of PFC function and dysfunction in schizophrenia. ..
  41. GENETIC MECHANISM OF BRCA LINKED OVARIAN TUMORIGENESIS
    Jeff Boyd; Fiscal Year: 2004
    ..Data from these studies may lead to the development of more effective therapeutic strategies for genetically-defined subsets of ovarian cancer patients. ..
  42. 35th Annual International Narcotics Research Conference
    Eric Simon; Fiscal Year: 2004
    ..We feel that participation by many pre and post doctoral students has resulted and is likely to continue to result in recruiting promising young scientists to a career in drug abuse research. ..
  43. WINTER CONFERENCE ON BRAIN RESEARCH
    DALTON SURMEIER; Fiscal Year: 2005
    ..Particular emphasis will be placed on obtaining a diverse group of fellows with respect to parent institution, gender, and minority status. ..
  44. Phenotype and Gene Expression in Odontogenic Tumors
    JOHN T WRIGHT; Fiscal Year: 2010
    ..Gene data will be placed on our web site in a timely fashion for data sharing. These studies will provide the first detailed mutational and gene profile studies of human odontogenic tumors. ..
  45. STRUCTURAL THERMODYNAMICS OF HUMAN APOLIPOPROTEIN C 1
    Olga Gursky; Fiscal Year: 2002
    ....
  46. Fibronectin in Cell Growth and Vascular Remodeling
    Jane Sottile; Fiscal Year: 2008
    ..These studies will provide important insights into the complex interplay between smooth muscle cells and extracellular matrix, which plays a critical role in the development and progression of vascular disease. [unreadable] [unreadable]..
  47. Computational Statistic Approaches to Gene-Environment Interaction
    SEBASTIAN ZOELLNER; Fiscal Year: 2009
    ..We intend to use this dataset as well as simulated datasets and other GWA datasets to evaluate and calibrate our methods for estimating genotype-phenotype interaction and for planning replication studies. (End of Abstract) ..
  48. MOLECULAR GENETIC ANALYSIS OF MYCOBACTERIUM TUBERCULOSIS
    William Jacobs; Fiscal Year: 2003
    ..Ultimately, the knowledge of mycobacterial virulence and persistence factors should lead to the development of novel drugs, vaccines, and immunotherapies to control tuberculosis. ..
  49. Repopulation of Liver Allografts by Recipients
    Zhaoli Sun; Fiscal Year: 2007
    ..Our studies may provide new insights into the mechanisms which promote tolerance and regeneration after liver transplantation and will provide the basis for the development of novel therapies. [unreadable] [unreadable] [unreadable]..
  50. RNA-PROTEIN INTERACTIONS
    Donald Burke; Fiscal Year: 2002
    ..In addition, experiments will be carried out to see what kinds of RT resistant mutants arise in response to various candidate aptamers. ..
  51. EXTRACELLULAR MATRIX ABNORMALITIES IN CORNEAL EDEMA
    MARIA KENNEY; Fiscal Year: 2002
    ....
  52. Abnormalities in Keratoconus Corneas
    MARIA KENNEY; Fiscal Year: 2003
    ..These studies will provide fundamental insights into KC pathogensis and may provide a basis for therapy. ..
  53. Chromosome Analysis of Single Cells
    Brynn Levy; Fiscal Year: 2007
    ..abstract_text> ..
  54. Inhibitors of Yersinia Yop Type III Secretion(RMI)
    Joan Mecsas; Fiscal Year: 2005
    ..In addition, these inhibitors will be valuable tools to probe the structure and function of type III secretion systems encoded by Yersinia species and other Gram-negative bacterial pathogens. ..
  55. CHARACTERIZATION OF B ANTHRACIS EXOSPORIUM PROTEINS
    CHARLES TURNBOUGH; Fiscal Year: 2004
    ..anthracis spore surface (i.e., exosporium) to create affinity-matured single chain antibodies that neutralize exosporium protein activity, then test the effects of these reagents on spore properties. ..
  56. Genetics of Survival of Yersinia pseudotuberculosis
    Joan Mecsas; Fiscal Year: 2002
    ..In addition, studies of yop mutant Yersinia strains in mouse strains with specific immune defects may indicate the facets of the immune system targeted by each Yop. ..
  57. Biochemical and Structural Analysis of the Ribosome
    Mans Ehrenberg; Fiscal Year: 2007
    ..The density maps will be analyzed by manual or automated fitting of x-ray structures or by real space refinement to obtain atomic models. [unreadable] [unreadable]..
  58. SHORT-TERM TRAINING FOR MINORITY STUDENTS PROGRAM
    Joan Mecsas; Fiscal Year: 2007
    ..Our long-range goal is for these students to become independent scientists in academia or industry, and in this capacity, serve as mentors for other minority students. ..