sequence deletion

Summary

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

Top Publications

  1. pmc Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene
    Sian Jones
    Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institute, Baltimore, MD 21231, USA
    Science 324:217. 2009
  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. doi 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
  4. 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
  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 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
  7. 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
  8. 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
  9. 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
  10. pmc Large recurrent microdeletions associated with schizophrenia
    Hreinn Stefansson
    CNS Division, deCODE Genetics, Sturlugata 8, IS 101 Reykjavik, Iceland
    Nature 455:232-6. 2008

Detail Information

Publications240 found, 100 shown here

  1. pmc Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene
    Sian Jones
    Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institute, Baltimore, MD 21231, USA
    Science 324:217. 2009
    ..These results illustrate that complete, unbiased sequencing of protein-coding genes can lead to the identification of a gene responsible for a hereditary disease...
  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. doi 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...
  4. 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...
  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 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...
  7. 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...
  8. 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...
  9. 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...
  10. 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...
  11. 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...
  12. 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...
  13. 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...
  14. 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
    ....
  15. 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...
  16. doi 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
    ....
  17. 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...
  18. 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...
  19. 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...
  20. 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...
  21. 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...
  22. 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...
  23. 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...
  24. 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...
  25. 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...
  26. 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...
  27. 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...
  28. 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...
  29. 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...
  30. 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...
  31. 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...
  32. 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...
  33. 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...
  34. 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
    ....
  35. 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
    ....
  36. 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...
  37. 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...
  38. 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...
  39. doi 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
    ....
  40. 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...
  41. 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...
  42. 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...
  43. 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...
  44. 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...
  45. 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...
  46. 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...
  47. 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...
  48. 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
    ....
  49. 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...
  50. doi 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...
  51. 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...
  52. 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...
  53. 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...
  54. 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...
  55. 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...
  56. 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...
  57. 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...
  58. 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...
  59. doi 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...
  60. 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...
  61. 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...
  62. 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...
  63. 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...
  64. doi Novel de novo SHANK3 mutation in autistic patients
    Julie Gauthier
    Centre of Excellence in Neuromics of Université de Montréal, CHUM Research Centre, Notre Dame Hospital, Universite de Montreal, Montreal, QC, Canada
    Am J Med Genet B Neuropsychiatr Genet 150:421-4. 2009
    ..These results further support the role of SHANK3 gene disruption in the etiology of ASD...
  65. ncbi BRCA2 is required for homology-directed repair of chromosomal breaks
    M E Moynahan
    Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY 10021, USA
    Mol Cell 7:263-72. 2001
    ..We propose that impaired homology-directed repair caused by BRCA2 deficiency leads to chromosomal instability and, possibly, tumorigenesis, through lack of repair or misrepair of DNA damage...
  66. pmc The Hypocrea jecorina (Trichoderma reesei) hypercellulolytic mutant RUT C30 lacks a 85 kb (29 gene-encoding) region of the wild-type genome
    Verena Seidl
    Research Area Gene Technology and Applied Biochemistry, Institute of Chemical Engineering, Vienna University of Technology, Getreidemarkt 9 166 5, A 1060 Wien, Austria
    BMC Genomics 9:327. 2008
    ..To date this and an additional frame-shift mutation in the glycoprotein-processing beta-glucosidase II encoding gene are the only known genetic differences in strain RUT C30...
  67. pmc The rpoS mRNA leader recruits Hfq to facilitate annealing with DsrA sRNA
    Toby J Soper
    Program in Cellular, Molecular, Developmental Biology and Biophysics, Johns Hopkins University, Baltimore, Maryland 21218 2685, USA
    RNA 14:1907-17. 2008
    ..Once base-pairing between DsrA and rpoS mRNA is established, interactions between Hfq and the mRNA may stabilize the RNA complex by removing Hfq from the sRNA...
  68. pmc Activating and resistance mutations of EGFR in non-small-cell lung cancer: role in clinical response to EGFR tyrosine kinase inhibitors
    A F Gazdar
    Hamon Center for Therapeutic Oncology Research and Department of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA
    Oncogene 28:S24-31. 2009
    ..Various second-generation EGFR TKIs are currently being evaluated and may have the potential to overcome T790M-mediated resistance by virtue of their irreversible inhibition of the receptor TK domain...
  69. doi Structural determinants of the cellular localization and shuttling of TDP-43
    Youhna M Ayala
    International Centre for Genetic Engineering and Biotechnology ICGEB, 34012 Trieste, Italy
    J Cell Sci 121:3778-85. 2008
    ....
  70. ncbi Mice with a deletion in the first intron of the Col1a1 gene develop age-dependent aortic dissection and rupture
    Otto Rahkonen
    Department of Medical Biochemistry and Molecular Biology, University of Turku, Finland
    Circ Res 94:83-90. 2004
    ....
  71. pmc MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin
    R Trappe
    Institute of Human Genetics, , Germany
    Am J Hum Genet 68:1093-101. 2001
    ..This distinction will allow geneticists to offer more-specific counseling and discriminate between higher (maternal origin) and lower (paternal origin) recurrence risk...
  72. ncbi Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient
    Lucia Ballarati
    Lab Citogenetica Medica e Genetica Molecolare, IRCCS, Istituto Auxologico Italiano, Milan, Italy
    Eur J Med Genet 52:218-23. 2009
    ....
  73. doi NEMO gene mutations in Chinese patients with incontinentia pigmenti
    Pa Fan Hsiao
    Department of Dermatology, Mackay Memorial Hospital, Taipei, Taiwan Mackay Medicine, Nursing and Management College, Taipei, Taiwan
    J Formos Med Assoc 109:192-200. 2010
    ..Here, a subpopulation of Chinese patients with incontinentia pigmenti were examined to investigate the frequency and pattern of NEMO mutations, and to analyze their clinical features...
  74. ncbi A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis
    Ghazanfar Ali
    Department of Biochemistry, Faculty of Biological Sciences, Quaid i Azam University, Islamabad, Pakistan
    Hum Genet 121:319-25. 2007
    ..The mutation reported in the family, presented here, is the second mutation identified in LIPH gene. The identification of a genetic defect in LIPH suggests that this enzyme regulates hair growth...
  75. ncbi Optical maps distinguish individual strains of Escherichia coli O157 : H7
    Michael L Kotewicz
    Division of Molecular Biology, Office of Applied Research and Safety Assessment, Center for Food Safety and Applied Nutrition, US Food and Drug Administration, Laurel, MD 20708, USA
    Microbiology 153:1720-33. 2007
    ..The optical maps defined unique genome landmarks in each of the strains and demonstrated the ability of optical mapping to distinguish and differentiate, at the individual level, strains of this important pathogen...
  76. doi 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...
  77. pmc Sho1 and Msb2-related proteins regulate appressorium development in the smut fungus Ustilago maydis
    Daniel Lanver
    Max Planck Institute for Terrestrial Microbiology, D 35043 Marburg, Germany
    Plant Cell 22:2085-101. 2010
    ..These data suggest that Sho1 and the transmembrane mucin Msb2 are involved in plant surface sensing in U. maydis...
  78. doi The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis
    Juan Rodriguez-Paris
    Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA
    Biochem Biophys Res Commun 389:354-9. 2009
    ..Our study provides unequivocal support for the hypothesis that del(GJB6-D13S1830) eliminates a putative cis-regulatory element located within the deleted region...
  79. doi Adaptation and transmission of a duck-origin avian influenza virus in poultry species
    Jinling Li
    Department of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, CA 95616, USA
    Virus Res 147:40-6. 2010
    ..In addition, our findings showed that a duck-origin virus can rapidly adapt to chickens, suggesting that the emergence of new epidemic AIV can be rapid...
  80. doi Genetic polymorphisms of MPO, GSTT1, GSTM1, GSTP1, EPHX1 and NQO1 as risk factors of early-onset lung cancer
    Maria Timofeeva
    Department of Epigenomics and Cancer Risk Factors, German Cancer Research Centre DKFZ, Heidelberg, Germany
    Int J Cancer 127:1547-61. 2010
    ..To confirm these observations and to eliminate possible bias in our analyses, larger studies are warranted...
  81. ncbi Seed-specific expression of sesame microsomal oleic acid desaturase is controlled by combinatorial properties between negative cis-regulatory elements in the SeFAD2 promoter and enhancers in the 5'-UTR intron
    Mi Jung Kim
    School of Life Sciences and Biotechnology, Korea University, Seoul, 136 701, South Korea
    Mol Genet Genomics 276:351-68. 2006
    ....
  82. ncbi TTF-1 phosphorylation is required for peripheral lung morphogenesis, perinatal survival, and tissue-specific gene expression
    Mario DeFelice
    Stazione Zoologica A Dohrn, Villa Comunale, 80121 Naples, Italy
    J Biol Chem 278:35574-83. 2003
    ..Direct and indirect transcriptional targets of TTF-1 were identified that are likely to play important roles in lung formation and function...
  83. pmc Deciphering the roles of the histone H2B N-terminal domain in genome-wide transcription
    Michael A Parra
    School of Molecular Biosciences, Washington State University, Fulmer Hall 675, Pullman, Washington 99164 4660, USA
    Mol Cell Biol 26:3842-52. 2006
    ..Finally, comparisons of these data with previous studies reveal that a surprising number of genes are coregulated by the N-terminal domains of histone H2B, H3, and H4...
  84. pmc Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation
    Rose E Goodchild
    Department of Neurology, Columbia University, New York, NY 10032, USA
    Proc Natl Acad Sci U S A 101:847-52. 2004
    ..DYT1 dystonia appears to be a previously uncharacterized NE disease and the first, to our knowledge, to selectively affect CNS function...
  85. pmc Pax6 3' deletion results in aniridia, autism and mental retardation
    L K Davis
    Department of Psychiatry, University of Iowa Carver College of Medicine, Iowa City, IA, USA
    Hum Genet 123:371-8. 2008
    ..3 Mb deletion that disrupts PAX6 transcriptional activity and deletes additional genes expressed in the brain. Our findings provide continued evidence for the role of PAX6 in neural phenotypes associated with aniridia...
  86. pmc Saccharomyces cerevisiae pol30 (proliferating cell nuclear antigen) mutations impair replication fidelity and mismatch repair
    C Chen
    Ludwig Institute for Cancer Research, University of California San Diego School of Medicine, La Jolla, California 92093, USA
    Mol Cell Biol 19:7801-15. 1999
    ..Moreover, pol30-104 caused a hyperrecombination phenotype that was partially suppressed by a msh2 mutation. These results suggest that pol30-104 strains accumulate DNA breaks in a MSH2-dependent manner...
  87. ncbi Toward a major risk factor for atopic eczema: meta-analysis of filaggrin polymorphism data
    Hansjörg Baurecht
    Institute for Medical Statistics and Epidemiology IMSE, Technical University Munich TUM, Munich, Germany
    J Allergy Clin Immunol 120:1406-12. 2007
    ..However, studies published to date demonstrate differences concerning study design and strength of associations...
  88. pmc Human eukaryotic translation initiation factor 4G (eIF4G) possesses two separate and independent binding sites for eIF4A
    H Imataka
    Department of Biochemistry and McGill Cancer Centre, McGill University, Montreal, Quebec, Canada
    Mol Cell Biol 17:6940-7. 1997
    ..In contrast to eIF4G, human p97, a translation inhibitor with homology to eIF4G, binds eIF4A only through the amino-terminal proximal region, which is homologous to the middle domain of eIF4G...
  89. pmc Contribution of SHANK3 mutations to autism spectrum disorder
    Rainald Moessner
    The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, M5G 1L7, Canada
    Am J Hum Genet 81:1289-97. 2007
    ..The combined data provide support that haploinsufficiency of SHANK3 can cause a monogenic form of autism in sufficient frequency to warrant consideration in clinical diagnostic testing...
  90. doi Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients
    Gerlind Franke
    Department of Nephrology, University Medical Center Freiburg, Freiburg, Germany
    Hum Mutat 30:776-86. 2009
    ....
  91. ncbi The chicken B cell line DT40: a novel tool for gene disruption experiments
    P Winding
    Institute of Molecular Biology, Oster Farimagsgade 2A, DK-1353, Copenhagen, Denmark
    J Immunol Methods 249:1-16. 2001
    ..Novel applications of the cell line, e.g., as a vector for gene targeting of human chromosomes, are also discussed in this review...
  92. doi Phosphorylated and ubiquitinated TDP-43 pathological inclusions in ALS and FTLD-U are recapitulated in SH-SY5Y cells
    Takashi Nonaka
    Department of Molecular Neurobiology, Tokyo Institute of Psychiatry, Tokyo Metropolitan Organization for Medical Research, 2 1 8 Kamikitazawa, Setagaya ku 156 8585, Tokyo, Japan
    FEBS Lett 583:394-400. 2009
    ..Our results suggest that intracellular localization of TDP-43 and proteasomal function may be involved in inclusion formation and neurodegeneration in TDP-43 proteinopathies...
  93. pmc Hepatitis B virus pre-S deletion mutations are a risk factor for hepatocellular carcinoma: a matched nested case-control study
    Zhong Liao Fang
    Department of Medicine, UCL Medical School, London W1T 4JF, UK
    J Gen Virol 89:2882-90. 2008
    ..The 5' terminus of pre-S2 is the favoured site for the deletion mutations, especially in HCC cases. Further prospective studies are required to confirm the role of these mutations in the development of HCC...
  94. doi Functional evaluation of the role of reticuloendotheliosis virus long terminal repeat (LTR) integrated into the genome of a field strain of Marek's disease virus
    Ai jun Sun
    Shandong Agricultural University, Taian 271018, PR China
    Virology 397:270-6. 2010
    ....
  95. ncbi Real-time quantitative PCR as an alternative to Southern blot or fluorescence in situ hybridization for detection of gene copy number changes
    Jasmien Hoebeeck
    Center for Medical Genetics, Ghent University Hospital, Belgium
    Methods Mol Biol 353:205-26. 2007
    ..We illustrate the approach by describing a validated assay for the detection of germline VHL exon deletions and for determination of MYCN copy numbers in tumor samples...
  96. pmc Dependence and independence of [PSI(+)] and [PIN(+)]: a two-prion system in yeast?
    I L Derkatch
    Laboratory for Molecular Biology, Department of Biological Sciences, University of Illinois at Chicago, 900 South Ashland Avenue, Chicago, IL 60607, USA
    EMBO J 19:1942-52. 2000
    ..Models for [PIN(+)] action, which explain these findings, are discussed...
  97. pmc Characterization of the maintained vegetative phase deletions from diploid wheat and their effect on VRN2 and FT transcript levels
    Assaf Distelfeld
    Department of Plant Sciences, University of California, Davis, CA 95616, USA
    Mol Genet Genomics 283:223-32. 2010
    ..Until the specific gene(s) responsible for the down-regulation of VRN2 and FT and the non-flowering phenotype are precisely identified, it is premature to use these results to postulate alternative flowering models...
  98. pmc A conserved double-stranded RNA-binding domain
    D St Johnston
    Wellcome Cancer Research Campaign Institute, Cambridge, United Kingdom
    Proc Natl Acad Sci U S A 89:10979-83. 1992
    ..On the basis of the binding studies and computer analysis, we have derived a consensus sequence that defines a 65- to 68-amino acid dsRNA-binding domain...
  99. ncbi The insulin receptor isoform exon 11- (IR-A) in cancer and other diseases: a review
    A Denley
    School of Molecular and Biomedical Sciences, The University of Adelaide, Adelaide 5005, South Australia
    Horm Metab Res 35:778-85. 2003
    ..Differential expression of the insulin receptor isoforms has also been demonstrated in type 2 diabetes although there is some discrepancy in the literature as to which isoform is expressed...
  100. pmc The 30-amino-acid deletion in the Nsp2 of highly pathogenic porcine reproductive and respiratory syndrome virus emerging in China is not related to its virulence
    Lei Zhou
    Key Laboratory of Zoonosis of Ministry of Agriculture, College of Veterinary Medicine, China Agricultural University, Beijing 100193, People s Republic of China
    J Virol 83:5156-67. 2009
    ..RvHB1-ND30 exhibited low virulence for piglets, like RvHB-1/3.9 and the parental virus HB-1/3.9. Therefore, we conclude that the 30-amino-acid deletion is not related to the virulence of the highly pathogenic PRRSV emerging in China...

Research Grants171 found, 100 shown here

  1. VIRAL & HOST FACTORS IN HERPETIC REACTIVATION
    David A Leib; Fiscal Year: 2010
    ..A better understanding, at the molecular level, of factors involved in HSV pathogenesis will lead to improved therapies for these diseases. ..
  2. MOLECULAR CORRELATES OF METHOTREXATE IN CHILDHOOD ALL
    Larry Matherly; Fiscal Year: 2004
    ..e) altered hRFC mRNA splice forms, gene sequence variants in the hRFC coding sequence, and a high frequency sequence deletion in a hRFC promoter...
  3. MOLECULAR CORRELATES OF METHOTREXATE IN CHILDHOOD ALL
    Larry Matherly; Fiscal Year: 2005
    ..e) altered hRFC mRNA splice forms, gene sequence variants in the hRFC coding sequence, and a high frequency sequence deletion in a hRFC promoter...
  4. MOLECULAR CORRELATES OF METHOTREXATE IN CHILDHOOD ALL
    Larry Matherly; Fiscal Year: 2003
    ..e) altered hRFC mRNA splice forms, gene sequence variants in the hRFC coding sequence, and a high frequency sequence deletion in a hRFC promoter...
  5. MOLECULAR CORRELATES OF METHOTREXATE IN CHILDHOOD ALL
    Larry Matherly; Fiscal Year: 2006
    ..e) altered hRFC mRNA splice forms, gene sequence variants in the hRFC coding sequence, and a high frequency sequence deletion in a hRFC promoter...
  6. 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...
  7. Identification of mechanisms of SIRT1 activation during nutrient limitation
    JOHN ERNEST DOMINY; Fiscal Year: 2010
    ..The acetylation state of SIRT1 targets will be measured to determine what effect sequence deletion had on SIRTI's ability to sense nutrient deprivation...
  8. Identification of mechanisms of SIRT1 activation during nutrient limitation
    John Dominy; Fiscal Year: 2009
    ..The acetylation state of SIRT1 targets will be measured to determine what effect sequence deletion had on SIRTI's ability to sense nutrient deprivation...
  9. Molecular Analysis of Multiple otiTs in the Gonococcal Mobilizable R-Plasmids
    LUIS TORRES BAUZA; Fiscal Year: 2004
    ..We propose to identify the functional oriT in the intergenic region by sequence deletion and site-directed mutagenesis...
  10. CHARACTERIZATION OF SAR/AGR INTERACTIONS IN S AUREUS
    Ambrose Cheung; Fiscal Year: 2004
    ..This knowledge is indispensable if we are to design synthetic analogs to interfere with the expression of virulence genes controlled by the sar locus in the future. ..
  11. CHARACTERIZATION OF SAR/AGR INTERACTIONS IN S AUREUS
    Ambrose Cheung; Fiscal Year: 2000
    ..This knowledge is indispensable if we are to design synthetic analogs to interfere with the expression of virulence genes controlled by the sar locus in the future. ..
  12. CHARACTERIZATION OF SAR/AGR INTERACTIONS IN S AUREUS
    Ambrose Cheung; Fiscal Year: 2002
    ..This knowledge is indispensable if we are to design synthetic analogs to interfere with the expression of virulence genes controlled by the sar locus in the future. ..
  13. CHARACTERIZATION OF SAR/AGR INTERACTIONS IN S AUREUS
    Ambrose Cheung; Fiscal Year: 2001
    ..This knowledge is indispensable if we are to design synthetic analogs to interfere with the expression of virulence genes controlled by the sar locus in the future. ..
  14. CHARACTERIZATION OF SAR/AGR INTERACTIONS IN S AUREUS
    Ambrose Cheung; Fiscal Year: 2003
    ..This knowledge is indispensable if we are to design synthetic analogs to interfere with the expression of virulence genes controlled by the sar locus in the future. ..
  15. Genetic and Environmental Factors in Deletion Disorders
    ROBERT NICHOLLS; Fiscal Year: 2002
    ..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 / ..
  16. Genetic and Environmental Factors in Deletion Disorders
    ROBERT NICHOLLS; Fiscal Year: 2001
    ..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 / ..
  17. Genetic and Environmental Factors in Deletion Disorders
    ROBERT NICHOLLS; Fiscal Year: 2004
    ..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 / ..
  18. Genetic and Environmental Factors in Deletion Disorders
    ROBERT NICHOLLS; Fiscal Year: 2003
    ..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 / ..
  19. 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 / ..
  20. GROWTH FACTOR EXPRESSION IN RENAL ENDOTHEIAL CELLS
    Tom Daniel; Fiscal Year: 1991
    ..will be identified by DNA footprinting techniques and transient expression of a series of flanking sequence deletion constructs...
  21. 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 ..
  22. Vector Targeting for Fracture Repair
    Alan Davis; Fiscal Year: 2001
    ..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 ..
  23. ATP-MODULATED SIGNAL TRANSDUCTION MECHANISM OF ANF-RGC
    Teresa Duda; Fiscal Year: 2009
    ..The proposed studies are most fundamental in nature, yet they are directly applicable to the molecular understanding the disease processes resulting in hypertension, heart dystrophy, water balance and fluid secretion. ..
  24. ATP-MODULATED SIGNAL TRANSDUCTION MECHANISM OF ANF-RGC
    Teresa Duda; Fiscal Year: 2008
    ..The proposed studies are most fundamental in nature, yet they are directly applicable to the molecular understanding the disease processes resulting in hypertension, heart dystrophy, water balance and fluid secretion. ..
  25. ATP-MODULATED SIGNAL TRANSDUCTION MECHANISM OF ANF-RGC
    Teresa Duda; Fiscal Year: 2009
    ..The proposed studies are most fundamental in nature, yet they are directly applicable to the molecular understanding the disease processes resulting in hypertension, heart dystrophy, water balance and fluid secretion. ..
  26. ATP-MODULATED SIGNAL TRANSDUCTION MECHANISM OF ANF-RGC
    Teresa Duda; Fiscal Year: 2010
    ..The proposed studies are most fundamental in nature, yet they are directly applicable to the molecular understanding the disease processes resulting in hypertension, heart dystrophy, water balance and fluid secretion. ..
  27. 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, ..
  28. ATP-MODULATED SIGNAL TRANSDUCTION MECHANISM OF ANF-RGC
    Teresa Duda; Fiscal Year: 2007
    ..The proposed studies are most fundamental in nature, yet they are directly applicable to the molecular understanding the disease processes resulting in hypertension, heart dystrophy, water balance and fluid secretion. ..
  29. MONOAMINERGIC MODULATION OF PREFRONTAL CORTEX
    DALTON SURMEIER; Fiscal Year: 2003
    ..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. ..
  30. Toward mechanism- and gene-based therapies for retinal degeneration
    Stephen Tsang; Fiscal Year: 2008
    ....
  31. Molecular cloning of the Waltzer deafness gene
    ELIZABETH BRYDA; Fiscal Year: 2002
    ..cloning of the v gene will identify a new gene that plays a role in auditory development and hearing impairment and may provide important insight into understanding human hereditary deafness. ..
  32. 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. ..
  33. Molecular Classification of Endometrial Carcinomas
    Jeff Boyd; Fiscal Year: 2005
    ....
  34. GENETIC MECHANISM OF BRCA LINKED OVARIAN TUMORIGENESIS
    Jeff Boyd; Fiscal Year: 2003
    ..Data from these studies may lead to the development of more effective therapeutic strategies for genetically-defined subsets of ovarian cancer patients. ..
  35. Gene-nutrient Etiologies of Neural Tube Defects
    Gary Shaw; Fiscal Year: 2005
    ..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. ..
  36. DNA SEQUENCES INVOLVED IN THE HEAVY CHAIN SWITCH
    Wesley Dunnick; Fiscal Year: 2005
    ..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. ..
  37. GENETIC MECHANISM OF BRCA LINKED OVARIAN TUMORIGENESIS
    Jeff Boyd; Fiscal Year: 2001
    ..Data from these studies may lead to the development of more effective therapeutic strategies for genetically-defined subsets of ovarian cancer patients. ..
  38. BLOOD COAGULATION PROTEIN METAL ION LIPID INTERACTIONS
    Francis Castellino; Fiscal Year: 2000
    ..abstract_text> ..
  39. Why is Fam83h critical for enamel formation?
    Jan C C Hu; Fiscal Year: 2010
    ..Our long term goal is to advance understanding of normal and pathological tooth formation to stimulate improvements in the public's oral health. ..
  40. BLOOD COAGULATION PROTEIN METAL ION LIPID INTERACTIONS
    Francis Castellino; Fiscal Year: 2003
    ..abstract_text> ..
  41. THE GENOTYPE AND PHENOTYPE AMELOGENESIS IMPERFECTA
    John Wright; Fiscal Year: 2001
    ..Knowledge of the molecular determinants of morphogenesis and tissue formation will allow novel and more effective treatments and more accurate diagnosis of the diverse hereditary conditions affecting teeth. ..
  42. ENAMEL WITHOUT ENAMELIN
    Jan Hu; Fiscal Year: 2004
    ..The findings will establish an appropriate knowledge base for framing future hypotheses concerning the molecular mechanisms by which enamelin controls enamel biomineralization. ..
  43. General Motor Control Mechanisms and Disease Training Program
    DALTON SURMEIER; Fiscal Year: 2007
    ..The program outlined attempts to exemplify the multidisciplinary and interactive type of neuroscience research training encouraged by NINDS. ..
  44. STRUCTURAL THERMODYNAMICS OF HUMAN APOLIPOPROTEIN C 1
    Olga Gursky; Fiscal Year: 2002
    ....
  45. 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]..
  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. 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. ..
  48. DYSREGULATION OF THE CELL CYCLE BY HUMAN CYTOMEGALOVIRUS
    DEBORAH SPECTOR; Fiscal Year: 2002
    ....
  49. REGULATION OF RETROTRANSPOSITION IN S. CEREVISIAE
    MARIA CURCIO; Fiscal Year: 2003
    ..Hence, the proposed experiments will determine if there is a connection between cellular aging and an inability to maintain the dormancy of retrotransposons or by analogy, the latency of retroviruses. ..
  50. Phenotype and Gene Expression in Odontogenic Tumors
    John Wright; Fiscal Year: 2006
    ..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. [unreadable] [unreadable] [unreadable]..
  51. 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) ..
  52. Phenotype and Gene Expression in Odontogenic Tumors
    John Wright; Fiscal Year: 2008
    ..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. ..
  53. MODIFYING GENE DETERMINANTS OF TOOTH AND BONE PHENOTYPES
    John Wright; Fiscal Year: 2005
    ..abstract_text> ..
  54. The Role of Mitochondrial DNA Alterations in Cancer
    Lee Jun Wong; Fiscal Year: 2004
    ..Results from this research project will help us understand the functional role of mitochondrial DNA alterations in cancer and identify potential novel targets for more effective therapeutic development. ..
  55. Prader-Willi Syndrome: Correlates of Compulsivity
    Elisabeth Dykens; Fiscal Year: 2005
    ..Findings will further delineate the PWS phenotype across genetic subtypes, and for the first time ever, elucidate both environmental and biological correlates of psychopathology in this syndrome. ..
  56. MECHANISMS OF SULFATE TRANSPORT AND REGULATION
    Michael Jennings; Fiscal Year: 2004
    ..abstract_text> ..
  57. Community Cancer Genetics and Research Training (Revision)
    Jeffrey Weitzel; Fiscal Year: 2008
    ..The curriculum and delivery design may serve as a model for dissemination to other cancer centers to help address NCI priorities such as augmentation of familial registries (e.g. Cooperative Family Studies) ..
  58. Molecular Modulators of HCV Replication
    Neerja Kaushik Basu; Fiscal Year: 2004
    ..This will enable us to understand, at the molecular level, the replication process of hepatitis C virus and will further facilitate the development of effective drugs/inhibitors against HCV. ..
  59. Acellular vaccines against Francisella tularensis
    Wayne Conlan; Fiscal Year: 2004
    ..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. ..
  60. Regulatory Interactions of CFTR and ENaC
    Ronald Rubenstein; Fiscal Year: 2009
    ..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. ..
  61. Structure-Function Analysis of Spliceosomal ATPases
    Beate Schwer; Fiscal Year: 2008
    ..Defects and in this process can alter the structure and function of a gene product thus lead to disease. Understanding the basic mechanism of mRNA splicing is critical to understand how defects can lead to disease. ..
  62. Structure-Function Analysis of Spliceosomal ATPases
    Beate Schwer; Fiscal Year: 2009
    ..Defects and in this process can alter the structure and function of a gene product thus lead to disease. Understanding the basic mechanism of mRNA splicing is critical to understand how defects can lead to disease. ..
  63. Host Factors in Susceptibility to Chlamydial Disease
    KYLE RAMSEY; Fiscal Year: 2004
    ....
  64. VIRAL AND HOST FACTORS IN HERPETIC REACTIVATION
    David Leib; Fiscal Year: 2005
    ..abstract_text> ..
  65. Experimental Models of Viral Genome Evolution
    James Bull; Fiscal Year: 2008
    ....
  66. RESPONSES TO OXYGEN TOXICITY BY ANAEROBIC MICROORGANISMS
    Michael Adams; Fiscal Year: 2001
    ..furiosus grown under various stress conditions to characterize other proteins involved in the O2 detoxification pathway. ..
  67. REGULATION OF RETROTRANSPOSITION IN S. CEREVISIAE
    MARIA CURCIO; Fiscal Year: 2000
    ..Hence, the proposed experiments will determine if there is a connection between cellular aging and an inability to maintain the dormancy of retrotransposons or by analogy, the latency of retroviruses. ..
  68. LONG QT SYNDROME--POPULATION, GENETIC & CARDIAC STUDIES
    Arthur Moss; Fiscal Year: 1999
    ..This integrated research program is intended to: 1) improve the presymptomatic diagnosis and treatment of LQTS; and 2) provide a fundamental understanding of the molecular basis of repolarization-related cardiac arrhythmias. ..
  69. VIRAL AND HOST FACTORS IN HERPETIC REACTIVATION
    David Leib; Fiscal Year: 2001
    ....
  70. CHROMOSOMAL DELETION COVERAGE OF THE DROSOPHILA GENOME
    Kevin Cook; Fiscal Year: 1999
    ..Deletion coverage of the fly genome will increase the utility of Drosophila as a model organism and will strengthen the ability of basic research in flies to inform biomedical studies of human health and development. ..
  71. DELTAF508-CFTR TRAFFICKING REGULATED BY 4-PHENYLBUTYRATE
    Ronald Rubenstein; Fiscal Year: 2002
    ..2) To determine the mechanism by which 4PBA regulates Hsc70 at the protein and mRNA level by examining the influence of 4PBA on the kinetics of synthesis and degradation of Hsc70 protein and mRNA. ..
  72. Determinates of anti-HIV nucleic acid aptamer potency and resistance
    Donald Burke; Fiscal Year: 2009
    ....
  73. METALLOPROTEINASES IN NORMAL & KERATOCONUS CORNEAS
    MARIA KENNEY; Fiscal Year: 1990
    ..Our data in normal ocular tissues will provide baseline data for future studies to investigate proteolytic activities in these pathological conditions...
  74. EXTRACELLULAR MATRIX ABNORMALITIES IN CORNEAL EDEMA
    MARIA KENNEY; Fiscal Year: 1999
    ....
  75. METALLOPROTEINASES IN NORMAL & KERATOCONUS CORNEAS
    MARIA KENNEY; Fiscal Year: 1993
    ..Our data in normal ocular tissues will provide baseline data for future studies to investigate proteolytic activities in these pathological conditions...
  76. METALLOPROTEINASES IN NORMAL & KERATOCONUS CORNEAS
    MARIA KENNEY; Fiscal Year: 1992
    ..Our data in normal ocular tissues will provide baseline data for future studies to investigate proteolytic activities in these pathological conditions...
  77. METALLOPROTEINASES IN NORMAL & KERATOCONUS CORNEAS
    MARIA KENNEY; Fiscal Year: 1991
    ..Our data in normal ocular tissues will provide baseline data for future studies to investigate proteolytic activities in these pathological conditions...
  78. METALLOPROTEINASE IN NORMAL AND KERATOCONUS CORNEAS
    MARIA KENNEY; Fiscal Year: 1999
    ..In addition, these studies will also provide basic information on the regulation of MMP activity in the normal cornea and the consequences of protease action on corneal ECM structure and organization. ..
  79. Determinates of anti-HIV nucleic acid aptamer potency and resistance
    Donald Burke; Fiscal Year: 2008
    ....
  80. Chromosome Analysis of Single Cells
    Brynn Levy; Fiscal Year: 2007
    ..abstract_text> ..