point mutation

Summary

Summary: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.

Top Publications

  1. ncbi Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders
    E Joanna Baxter
    Department of Haematology, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK
    Lancet 365:1054-61. 2005
  2. ncbi A gain-of-function mutation of JAK2 in myeloproliferative disorders
    Robert Kralovics
    Department of Research, Experimental Hematology, University Hospital Basel, Basel, Switzerland
    N Engl J Med 352:1779-90. 2005
  3. ncbi Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
    Maria Eriksson
    Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314, USA
    Nature 423:293-8. 2003
  4. ncbi Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease
    R Kruger
    Nat Genet 18:106-8. 1998
  5. ncbi Mutation in the alpha-synuclein gene identified in families with Parkinson's disease
    M H Polymeropoulos
    Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 1430, USA
    Science 276:2045-7. 1997
  6. pmc I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure
    Emidio Capriotti
    Laboratory of Biocomputing, CIRB Department of Biology, University of Bologna via Irnerio 42, 40126 Bologna, Italy
    Nucleic Acids Res 33:W306-10. 2005
  7. pmc Site-specific gene correction of a point mutation in human iPS cells derived from an adult patient with sickle cell disease
    Jizhong Zou
    Institute for Cell Engineering, The JohnsHopkins University School of Medicine, Baltimore, MD, USA
    Blood 118:4599-608. 2011
  8. ncbi Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations
    Raphael Guerois
    EMBL, Meyerhofstrasse 1, 69117 Heidelberg, Germany
    J Mol Biol 320:369-87. 2002
  9. ncbi The genome sequence of the rice blast fungus Magnaporthe grisea
    Ralph A Dean
    Center for Integrated Fungal Research, North Carolina State University, Raleigh, North Carolina 27695, USA
    Nature 434:980-6. 2005
  10. pmc Endotoxin-tolerant mice have mutations in Toll-like receptor 4 (Tlr4)
    S T Qureshi
    Department of Medicine, McGill University, Montreal, Quebec, Canada H3G 1A4
    J Exp Med 189:615-25. 1999

Research Grants

  1. Integrating Diagnostics with Therapeutic Strategies in Chronic Myeloid Leukemia
    Vivian G Oehler; Fiscal Year: 2010
  2. Innate Immunity in Experimental Arthritis of Kininogen
    Robert Colman; Fiscal Year: 2005
  3. Innate Immunity in Experimental Arthritis of Kininogen
    Robert Colman; Fiscal Year: 2007
  4. Innate Immunity in Experimental Arthritis of Kininogen
    Robert Colman; Fiscal Year: 2006
  5. Innate Immunity in Experimental Arthritis of Kininogen
    Robert Colman; Fiscal Year: 2005
  6. Innate Immunity in Experimental Arthritis of Kininogen
    Robert Colman; Fiscal Year: 2004
  7. MR Monitoring of PTC124 Treatment in DMD
    KRISTA H VANDENBORNE; Fiscal Year: 2010
  8. MR Monitoring of PTC124 Treatment in DMD
    Krista Vandenborne; Fiscal Year: 2009
  9. BONE MATRIX AND BONE RESORPTION
    Paul R Odgren; Fiscal Year: 2010
  10. BONE MATRIX AND BONE RESORPTION
    PAUL ODGREN; Fiscal Year: 2009

Detail Information

Publications232 found, 100 shown here

  1. ncbi Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders
    E Joanna Baxter
    Department of Haematology, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK
    Lancet 365:1054-61. 2005
    ..We investigated the role of the cytoplasmic tyrosine kinase JAK2 in patients with a myeloproliferative disorder...
  2. ncbi A gain-of-function mutation of JAK2 in myeloproliferative disorders
    Robert Kralovics
    Department of Research, Experimental Hematology, University Hospital Basel, Basel, Switzerland
    N Engl J Med 352:1779-90. 2005
    ..The loss of heterozygosity (LOH) on the short arm of chromosome 9 (9pLOH) in myeloproliferative disorders suggests that 9p harbors a mutation that contributes to the cause of clonal expansion of hematopoietic cells in these diseases...
  3. ncbi Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
    Maria Eriksson
    Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314, USA
    Nature 423:293-8. 2003
    ..The discovery of the molecular basis of this disease may shed light on the general phenomenon of human ageing...
  4. ncbi Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease
    R Kruger
    Nat Genet 18:106-8. 1998
  5. ncbi Mutation in the alpha-synuclein gene identified in families with Parkinson's disease
    M H Polymeropoulos
    Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 1430, USA
    Science 276:2045-7. 1997
    ..This finding of a specific molecular alteration associated with PD will facilitate the detailed understanding of the pathophysiology of the disorder...
  6. pmc I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure
    Emidio Capriotti
    Laboratory of Biocomputing, CIRB Department of Biology, University of Bologna via Irnerio 42, 40126 Bologna, Italy
    Nucleic Acids Res 33:W306-10. 2005
    ..0 as a unique and valuable helper for protein design, even when the protein structure is not yet known with atomic resolution. Availability: http://gpcr.biocomp.unibo.it/cgi/predictors/I-Mutant2.0/I-Mutant2.0.cgi...
  7. pmc Site-specific gene correction of a point mutation in human iPS cells derived from an adult patient with sickle cell disease
    Jizhong Zou
    Institute for Cell Engineering, The JohnsHopkins University School of Medicine, Baltimore, MD, USA
    Blood 118:4599-608. 2011
    ..This study also provides a new strategy for gene therapy of monogenic diseases using patient-specific iPSCs, even if the underlying disease-causing mutation is not expressed in iPSCs...
  8. ncbi Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations
    Raphael Guerois
    EMBL, Meyerhofstrasse 1, 69117 Heidelberg, Germany
    J Mol Biol 320:369-87. 2002
    ..FOLDEF is available via a web-interface at http://fold-x.embl-heidelberg.de..
  9. ncbi The genome sequence of the rice blast fungus Magnaporthe grisea
    Ralph A Dean
    Center for Integrated Fungal Research, North Carolina State University, Raleigh, North Carolina 27695, USA
    Nature 434:980-6. 2005
    ..The M. grisea genome has been subject to invasion and proliferation of active transposable elements, reflecting the clonal nature of this fungus imposed by widespread rice cultivation...
  10. pmc Endotoxin-tolerant mice have mutations in Toll-like receptor 4 (Tlr4)
    S T Qureshi
    Department of Medicine, McGill University, Montreal, Quebec, Canada H3G 1A4
    J Exp Med 189:615-25. 1999
    ..C3H/HeJ mice have a point mutation within the coding region of the Tlr4 gene, resulting in a nonconservative substitution of a highly conserved ..
  11. ncbi Auto-regulation of the circadian slave oscillator component AtGRP7 and regulation of its targets is impaired by a single RNA recognition motif point mutation
    Jan C Schöning
    Department of Molecular Cell Physiology, University of Bielefeld, D 33615 Bielefeld, Germany
    Plant J 52:1119-30. 2007
    ....
  12. pmc Identification of an acquired JAK2 mutation in polycythemia vera
    Runxiang Zhao
    Hematology Oncology Division, Department of Medicine, Vanderbilt Ingram Cancer Center, Vanderbilt University, Nashville, Tennessee 37232, USA
    J Biol Chem 280:22788-92. 2005
    ..By sequencing the entire coding regions of cDNAs of candidate enzymes, we identified a G:C--> T:A point mutation of the JAK2 tyrosine kinase in 20 of 24 PV blood samples but none in 12 normal samples...
  13. doi Genomic evidence of repeat-induced point mutation (RIP) in filamentous ascomycetes
    A John Clutterbuck
    School of Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, Scotland, UK
    Fungal Genet Biol 48:306-26. 2011
    ..Many genomes carried both intact repeats as well as others that had suffered heavily from transitions. Only one species, Chaetomium globosum, showed no evidence of directional mutation...
  14. ncbi A molecular marker for chloroquine-resistant falciparum malaria
    A Djimde
    Malaria Section, Center for Vaccine Development, University of Maryland School of Medicine, Baltimore 21201, USA
    N Engl J Med 344:257-63. 2001
    ..Chloroquine resistance has been associated in vitro with point mutations in two genes, pfcrt and pfmdr 1, which encode the P. falciparum digestive-vacuole transmembrane proteins PfCRT and Pgh1, respectively...
  15. pmc The S4-S5 linker couples voltage sensing and activation of pacemaker channels
    J Chen
    Department of Medicine, Division of Cardiology, Eccles Program in Human Molecular Biology and Genetics, University of Utah, Eccles Institute of Human Genetics, 15 N 2030 E, Room 4220, Salt Lake City, UT 84112, USA
    Proc Natl Acad Sci U S A 98:11277-82. 2001
    ..Our findings also suggest that opening of HCN and related channels corresponds to activation of a gate located near the inner pore, rather than recovery of channels from a C-type inactivated state...
  16. pmc Point mutation in the glycoprotein of lymphocytic choriomeningitis virus is necessary for receptor binding, dendritic cell infection, and long-term persistence
    Brian M Sullivan
    Viral Immunobiology Laboratory, Department of Immunology and Microbial Science, The Scripps Research Institute, La Jolla, CA 92037, USA
    Proc Natl Acad Sci U S A 108:2969-74. 2011
    ..This work emphasizes the importance of subtle differences in viral strains that determine disease outcomes...
  17. ncbi A novel germ-line point mutation in RET exon 8 (Gly(533)Cys) in a large kindred with familial medullary thyroid carcinoma
    Adriana M Alvares Da Silva
    Laboratory of Molecular Endocrinology, Division of Endocrinology, Department of Medicine, Escola Paulist de Medicina, Federal University of Sao Paulo, Brazil
    J Clin Endocrinol Metab 88:5438-43. 2003
    ..We now report a new missense point mutation in exon 8 of the RET gene (1597G-->T) corresponding to a Gly(533)Cys substitution in the cysteine-rich ..
  18. pmc Inherited mitochondrial optic neuropathies
    P Yu-Wai-Man
    Mitochondrial Research Group, The Medical School, Newcastle University, Newcastle upon Tyne, UK
    J Med Genet 46:145-58. 2009
    ....
  19. ncbi A point mutation in the FMR-1 gene associated with fragile X mental retardation
    K De Boulle
    Department of Medical Genetics, University of Antwerp UIA, Belgium
    Nat Genet 3:31-5. 1993
    ..We find a single point mutation in FMR-1 resulting in an lle367Asn substitution...
  20. pmc Polymorphism of PfATPase in Niger: detection of three new point mutations
    Maman Laminou Ibrahim
    Centre de Recherche Médicale et Sanitaire CERMES, BP 10887 Niamey, Niger
    Malar J 8:28. 2009
    ..The goal of this work was to describe the baseline polymorphism of PfATPase6 gene in Niger, at a time when the national implementation of the ACT policy had just begun...
  21. pmc RIPCAL: a tool for alignment-based analysis of repeat-induced point mutations in fungal genomic sequences
    James K Hane
    Australian Centre for Necrotrophic Fungal Pathogens, Faculty of Health Sciences, Murdoch University, Murdoch, Australia
    BMC Bioinformatics 9:478. 2008
    Repeat-induced point mutation (RIP) is a fungal-specific genome defence mechanism that alters the sequences of repetitive DNA, thereby inactivating coding genes...
  22. ncbi Broad antiretroviral defence by human APOBEC3G through lethal editing of nascent reverse transcripts
    Bastien Mangeat
    Department of Genetics and Microbiology, University of Geneva, 1211 Geneva 4, Switzerland
    Nature 424:99-103. 2003
    ..We also find that APOBEC3G can act on a broad range of retroviruses in addition to HIV, suggesting that hypermutation by editing is a general innate defence mechanism against this important group of pathogens...
  23. pmc CUPSAT: prediction of protein stability upon point mutations
    Vijaya Parthiban
    Cologne University Bioinformatics Center, International Max Planck Research School, Cologne, Germany
    Nucleic Acids Res 34:W239-42. 2006
    ..Thus, the program serves as a valuable tool for the analysis of protein design and stability. The tool is accessible from the link http://cupsat.uni-koeln.de...
  24. doi Molecular assessment of Plasmodium falciparum resistance to antimalarial drugs in China
    G Q Zhang
    National Institute of Parasitic Diseases, Chinese Center for Disease Control and Prevention, WHO Collaborating Center for Malaria, Schistosomiasis and Filariasis, Shanghai 200025, China
    Trop Med Int Health 14:1266-71. 2009
    ..The main purpose of this study was to analyse the molecular markers of antimalarial resistance and thereby to assess the possibility of reintroduction of CQ or SP for falciparum malaria treatment...
  25. ncbi Generalized lymphoproliferative disease in mice, caused by a point mutation in the Fas ligand
    T Takahashi
    Osaka Bioscience Institute, Japan
    Cell 76:969-76. 1994
    ..Activated splenocytes from gld mice express Fasl mRNA. However, FasL in gld mice carries a point mutation in the C-terminal region, which is highly conserved among members of the TNF family...
  26. pmc A point mutation leading to hepatitis C virus escape from neutralization by a monoclonal antibody to a conserved conformational epitope
    Zhen Yong Keck
    Department of Pathology, Stanford University School of Medicine, Stanford, California 94305, USA
    J Virol 82:6067-72. 2008
    ..These results highlight the challenges inherent in developing HCV vaccines and show that an effective vaccine must induce antibodies to both conserved and more invariant epitopes to minimize virus escape...
  27. pmc A point mutation in KINDLIN3 ablates activation of three integrin subfamilies in humans
    Nikolay L Malinin
    Department of Molecular Cardiology, Joseph J Jacobs Center for Thrombosis and Vascular Biology, NB50, The Cleveland Clinic, 9500 Euclid Avenue, Cleveland, Ohio 44195, USA
    Nat Med 15:313-8. 2009
    ..The genetic basis for this disease was traced to a point mutation in the coding region of the KINDLIN3 (official gene symbol FERMT3) gene...
  28. doi Detection of novel point mutations in the Plasmodium falciparum ATPase6 candidate gene for resistance to artemisinins
    Michela Menegon
    Department of Infectious, Parasitic and Immunomediated Diseases, Istituto Superiore di Sanita, Rome, Italy
    Parasitol Int 57:233-5. 2008
  29. pmc A cytosine methyltransferase homologue is essential for repeat-induced point mutation in Neurospora crassa
    Michael Freitag
    Institute of Molecular Biology, University of Oregon, Eugene, OR 97403 1229, USA
    Proc Natl Acad Sci U S A 99:8802-7. 2002
    ..Neurospora crassa inactivates genes in duplicated DNA segments by a hypermutation process, repeat-induced point mutation (RIP)...
  30. ncbi Point mutation in an AMPA receptor gene rescues lethality in mice deficient in the RNA-editing enzyme ADAR2
    M Higuchi
    Department of Molecular Neurobiology, Max Planck Institute for Medical Research, Heidelberg, Germany
    Nature 406:78-81. 2000
    ..We conclude that this transcript is the physiologically most important substrate of ADAR2...
  31. pmc Relics of repeat-induced point mutation direct heterochromatin formation in Neurospora crassa
    Zachary A Lewis
    Institute of Molecular Biology, University of Oregon, Eugene, Oregon, 97403 1229, USA
    Genome Res 19:427-37. 2009
    ..co-localized and defined 44 heterochromatic domains on linkage group VII, all relics of repeat-induced point mutation. Interestingly, the centromere was found in an approximately 350 kb heterochromatic domain with no detectable ..
  32. pmc Impaired synaptic plasticity and motor learning in mice with a point mutation implicated in human speech deficits
    Matthias Groszer
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, United Kingdom
    Curr Biol 18:354-62. 2008
    ..In this study, we generated mice carrying an identical point mutation to that of the KE family, yielding the equivalent arginine-to-histidine substitution in the Foxp2 DNA-binding ..
  33. doi Disc1 point mutations in mice affect development of the cerebral cortex
    Frankie H F Lee
    Centre for Addiction and Mental Health, Toronto, Ontario, Canada M5T 1R8
    J Neurosci 31:3197-206. 2011
    ..Overall, the histology of Disc1 mutant mouse cortex is reminiscent of the findings in schizophrenia. These results provide further evidence that Disc1 participates in cortical development, including neurogenesis and neuron migration...
  34. doi Point mutation of the proteasome beta5 subunit gene is an important mechanism of bortezomib resistance in bortezomib-selected variants of Jurkat T cell lymphoblastic lymphoma/leukemia line
    Shuqing Lu
    Department of Hematology, Changhai Hospital, Second Military Medical University, 174 Changhai Road, Shanghai 200433, China
    J Pharmacol Exp Ther 326:423-31. 2008
    ..The predicted structure of A108T-mutated PSMB5 shows a conformational change that suggests decreased affinity to bortezomib. In short, the G322A mutation of the PSMB5 gene is a novel mechanism for bortezomib resistance...
  35. pmc NDUFS4: creation of a mouse model mimicking a Complex I disorder
    Christopher A Ingraham
    Department of Biomedical Genetics, Univ of Rochester Medical Center, Rochester, NY, USA
    Mitochondrion 9:204-10. 2009
    ..Therefore, a mouse model harboring a point mutation in the NDUFS4 gene was created...
  36. doi Genome integrity of myeloproliferative neoplasms in chronic phase and during disease progression
    Thorsten Klampfl
    Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria
    Blood 118:167-76. 2011
    ..Our data provide insight into the genetic complexity of MPNs and implicate new genes involved in disease progression...
  37. pmc An autism-associated point mutation in the neuroligin cytoplasmic tail selectively impairs AMPA receptor-mediated synaptic transmission in hippocampus
    Mark R Etherton
    Department of Molecular and Cellular Physiology, Stanford University, Palo Alto, CA, USA
    EMBO J 30:2908-19. 2011
    ..Our results suggest that the cytoplasmic tail of neuroligin-3 has a central role in synaptic transmission by modulating the recruitment of AMPA receptors to postsynaptic sites at excitatory synapses...
  38. ncbi Structural basis of TBX5-DNA recognition: the T-box domain in its DNA-bound and -unbound form
    Christian U Stirnimann
    European Molecular Biology Laboratory, Structural and Computational Biology Unit, Meyerhofstrasse 1, 69117 Heidelberg, Germany
    J Mol Biol 400:71-81. 2010
    ..Interestingly, all tested TBX5 mutants differ in their ability to bind unspecific DNA, indicating that both sequence-specific and unspecific binding might contribute to the misregulation of target gene expression...
  39. pmc Recurrent KRAS codon 146 mutations in human colorectal cancer
    Sarah Edkins
    Cancer Genome Project, Welcome Trust Sanger Institute, Hinxton, UK
    Cancer Biol Ther 5:928-32. 2006
    An activating point mutation in codon 12 of the HRAS gene was the first somatic point mutation identified in a human cancer and established the role of somatic mutations as the common driver of oncogenesis...
  40. ncbi Constitutive activation of the androgen receptor by a point mutation in the hinge region: a new mechanism for androgen-independent growth in prostate cancer
    Jocelyn Ceraline
    Laboratoire de Cancérologie Expérimentale et de Radiobiologie EA ULP 3430, IRCAD, Strasbourg, France
    Int J Cancer 108:152-7. 2004
    ..AR harboring the nonsense mutation Q640Stop just downstream the DNA binding domain together with the T877A point mutation. This type of mutation, which leads to a c-terminal truncated AR, has not been described yet in PCa...
  41. pmc Rapid and highly efficient method for scarless mutagenesis within the Salmonella enterica chromosome
    Kathrin Blank
    Junior Research Group 3, Robert Koch Institute, Wernigerode Branch, Wernigerode, Germany
    PLoS ONE 6:e15763. 2011
    ..The presented approach is very versatile for generating in-frame deletions, point mutations or insertions within bacterial chromosomes...
  42. pmc Voltage-controlled gating at the intracellular entrance to a hyperpolarization-activated cation channel
    Brad S Rothberg
    Department of Neurobiology, Harvard Medical School, 220 Longwood Avenue, Boston, MA 02115, USA
    J Gen Physiol 119:83-91. 2002
    ..Together, these results are consistent with a voltage-controlled structure at the intracellular side of the spHCN channel that can gate the flow of cations through the pore...
  43. pmc A point mutation in the dynein heavy chain gene leads to striatal atrophy and compromises neurite outgrowth of striatal neurons
    Kerstin E Braunstein
    Department of Neurology, University of Ulm, Ulm, Germany
    Hum Mol Genet 19:4385-98. 2010
    ..To provide such evidence, we used here a mouse strain carrying a point mutation in the dynein heavy chain gene that impairs retrograde axonal transport...
  44. ncbi Paclitaxel-resistant cells have a mutation in the paclitaxel-binding region of beta-tubulin (Asp26Glu) and less stable microtubules
    Malathi Hari
    Discovery Oncology, Wyeth, 401 North Middletown Road, Room 4709, Building 200, Pearl River, NY 10965, USA
    Mol Cancer Ther 5:270-8. 2006
    ..However, a novel point mutation (T to A) resulting in Asp26 to glutamate substitution in class I (M40) beta-tubulin was found...
  45. ncbi Late onset of stroke-like episode associated with a 3256C-->T point mutation of mitochondrial DNA
    Tina Dysgaard Jeppesen
    The Copenhagen Muscle Research Center, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    J Neurol Sci 214:17-20. 2003
    ..4 mmol/l), and in the mid-occipital region (2.3-3.2 mmol/l) that appeared normal on MRI. Further tests revealed evidence of a severe oxidative defect of muscle metabolism as well...
  46. pmc Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews
    Y Anikster
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA
    Am J Hum Genet 69:1218-24. 2001
    ..critical interval and identified, in the intronic sequence of a gene corresponding to cDNA clone FLJ22187, a point mutation that segregated with the type III MGA phenotype...
  47. pmc A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice
    Esther B E Becker
    Medical Research Council Functional Genomics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, South Parks Road, Oxford OX1 3QX, United Kingdom
    Proc Natl Acad Sci U S A 106:6706-11. 2009
    ..Our findings define a previously unknown role for TRPC3 in both dendritic development and survival of Purkinje cells, and provide a unique mechanism underlying cerebellar ataxia...
  48. pmc Structural determinants of G-protein alpha subunit selectivity by regulator of G-protein signaling 2 (RGS2)
    Adam J Kimple
    Departments of Pharmacology, University of North Carolina, Chapel Hill, North Carolina 27599, USA
    J Biol Chem 284:19402-11. 2009
    ....
  49. ncbi SOS mutator DNA polymerase IV functions in adaptive mutation and not adaptive amplification
    G J McKenzie
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030 3411, USA
    Mol Cell 7:571-9. 2001
    Adaptive point mutation and amplification are induced responses to environmental stress, promoting genetic changes that can enhance survival...
  50. ncbi Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle
    K Poetter
    Inherited Cardiac Diseases Section, NHLBI, NIH Bethesda, Maryland 20892 1650, USA
    Nat Genet 13:63-9. 1996
    ....
  51. pmc A point mutation in the groove of HLA-DO allows egress from the endoplasmic reticulum independent of HLA-DM
    Francis Deshaies
    Departement de Microbiologie et Immunologie, Universite de Montreal, CP 6128 Succursale Centre Ville, Montreal, QC, Canada H3T 1J4
    Proc Natl Acad Sci U S A 102:6443-8. 2005
    ..Collectively, these results suggest that the binding of HLA-DM to DOalpha allows the complex to egress from the ER by stabilizing intramolecular contacts between the N-terminal antiparallel beta-strands of the DOalphabeta heterodimer...
  52. ncbi Androgen receptor mutants detected in recurrent prostate cancer exhibit diverse functional characteristics
    Guangchun Chen
    Department of Pathophysiology, Second Military Medical University, Shanghai, People s Republic of China
    Prostate 63:395-406. 2005
    ..The goal of the present study was to investigate the potential roles of AR structural and functional alterations in the progression of prostate cancer, and the relationship between the structure and function of the AR...
  53. doi Repeat induced point mutation in two asexual fungi, Aspergillus niger and Penicillium chrysogenum
    Ilka Braumann
    Abteilung Botanik mit Schwerpunkt Genetik und Molekularbiologie, Botanisches Institut und Botanischer Garten, Christian Albrechts Universitat zu Kiel, Olshausenstrasse 40, 24098 Kiel, Germany
    Curr Genet 53:287-97. 2008
    Repeat induced point mutation (RIP) is a gene silencing mechanism present in fungal genomes. During RIP, duplicated sequences are efficiently and irreversibly mutated by transitions from C:G to T:A...
  54. pmc Anti-GD(2) with an FC point mutation reduces complement fixation and decreases antibody-induced allodynia
    Linda S Sorkin
    Department of Anesthesiology, University of California, San Diego School of Medicine, La Jolla, CA 92093, USA
    Pain 149:135-42. 2010
    ..However, treatment is associated with generalized, relatively opiate-resistant pain. We investigated if a point mutation in ch14.18 antibody (hu14...
  55. ncbi A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC
    C Eng
    Department of Pathology, University of Cambridge, UK
    Oncogene 10:509-13. 1995
    ..The same mutation was also detected in sporadic MTC but not in corresponding constitutional DNA, confirming that it is likely to be of pathological significance rather than a rare polymorphism...
  56. ncbi The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences
    M Krawczak
    Abteilung Humangenetik, Medizinische Hochschule, Hannover, Federal Republic of Germany
    Hum Genet 90:41-54. 1992
    ....
  57. pmc Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, and clinical correlates
    Scott E Woodman
    Department of Melanoma Medical Oncology and Department of Systems Biology, The University of Texas, MD Anderson Cancer Center, Houston, TX 77030, USA
    Mol Cancer Ther 8:2079-85. 2009
    ..These data support the selective inhibitory effect of dasatinib against cells harboring the most common KIT mutation in melanoma, and thus has therapeutic implications for acrallentiginous, chronic sun-damaged, and mucosal melanomas...
  58. ncbi A single determinant dominates the rate of yeast protein evolution
    D Allan Drummond
    Program in Computation and Neural Systems, California Institute of Technology, Pasadena, USA
    Mol Biol Evol 23:327-37. 2006
    ..Our results support the hypothesis that translational selection governs the rate of synonymous and protein sequence evolution in yeast...
  59. ncbi A mouse model for eukaryotic translation initiation factor 2B-leucodystrophy reveals abnormal development of brain white matter
    Michal Geva
    Department of Cell Research and Immunology, George S Wise Faculty of Life Science, Tel Aviv University, Tel Aviv, Israel
    Brain 133:2448-61. 2010
    ..We generated the first animal model for the disease by introducing a point mutation into the mouse Eif2b5 gene locus, leading to R132H replacement corresponding to the clinically significant ..
  60. doi Reduced amounts and abnormal forms of phospholipase C zeta (PLCzeta) in spermatozoa from infertile men
    E Heytens
    Department of Reproductive Medicine, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium
    Hum Reprod 24:2417-28. 2009
    ..Some types of human infertility appear to be caused by failure of the sperm to activate and this may be due to specific defects in PLCzeta...
  61. ncbi Anthrax lethal factor proteolysis and inactivation of MAPK kinase
    Arun P Chopra
    Laboratory of Developmental Cell Biology, Van Andel Research Institute, Grand Rapids, Michigan 49503, USA
    J Biol Chem 278:9402-6. 2003
    ....
  62. pmc Digital PCR
    B Vogelstein
    The Howard Hughes Medical Institute and The Johns Hopkins Oncology Center, Baltimore, MD 21231, USA
    Proc Natl Acad Sci U S A 96:9236-41. 1999
    ..The process provides a reliable and quantitative measure of the proportion of variant sequences within a DNA sample...
  63. ncbi A FLT3-targeted tyrosine kinase inhibitor is cytotoxic to leukemia cells in vitro and in vivo
    Mark Levis
    Johns Hopkins University School of Medicine, Department of Oncology, Baltimore, MD 21231 1000, USA
    Blood 99:3885-91. 2002
    ..These findings form the basis for a planned clinical trial of CEP-701 in patients with AML harboring FLT3- activating mutations...
  64. ncbi Craniosynostosis: genes and mechanisms
    A O Wilkie
    Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
    Hum Mol Genet 6:1647-56. 1997
    ....
  65. ncbi DNA sequence recognition by Pax proteins: bipartite structure of the paired domain and its binding site
    T Czerny
    Research Institute of Molecular Pathology, Vienna, Austria
    Genes Dev 7:2048-61. 1993
    ....
  66. ncbi Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)
    K Isogai
    Department of Pediatrics, Gifu University School of Medicine, Japan
    J Inherit Metab Dis 21:60-70. 1998
    ..unique mutations linked to a severe phenotype were apparently associated with aberrant splicings; one was a point mutation within exon 3 (P86L), partially activating a cryptic splice acceptor site at 28 bp downstream from the ..
  67. ncbi A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans
    J C Achermann
    Nat Genet 22:125-6. 1999
  68. pmc Detection of knockdown resistance (kdr) mutations in Anopheles gambiae: a comparison of two new high-throughput assays with existing methods
    Chris Bass
    Department of Biological Chemistry, Rothamsted Research, Harpenden, UK
    Malar J 6:111. 2007
    ..However, there are few reports comparing the performance of these different assays. In this study, two new high-throughput assays were developed and compared with four established techniques...
  69. pmc Distribution of fitness and virulence effects caused by single-nucleotide substitutions in Tobacco Etch virus
    Purificación Carrasco
    Instituto de Biología Molecular y Celular de Plantas CSIC UPV, Avenida de los Naranjos s n, 46022 Valencia, Spain
    J Virol 81:12979-84. 2007
    ..4% increases. Interestingly, the only mutations showing a significant effect on virulence were hypervirulent. Competitive fitness and virulence were uncorrelated traits...
  70. pmc Gene-environment interactions in Leber hereditary optic neuropathy
    Matthew Anthony Kirkman
    Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, UK
    Brain 132:2317-26. 2009
    ..Based on these findings, asymptomatic carriers of a LHON mtDNA mutation should be strongly advised not to smoke and to moderate their alcohol intake...
  71. pmc Burkholderia pseudomallei class a beta-lactamase mutations that confer selective resistance against ceftazidime or clavulanic acid inhibition
    Chanwit Tribuddharat
    Department of Microbiology, Mahidol University, Bangkok 10700, Thailand
    Antimicrob Agents Chemother 47:2082-7. 2003
    ..pseudomallei penA gene revealed a putative regulator gene located downstream of penA. We have cloned and sequenced the penA gene from B. mallei and found it to be identical to penA from B. pseudomallei...
  72. ncbi A single-point mutation converts the highly amyloidogenic human islet amyloid polypeptide into a potent fibrillization inhibitor
    Andisheh Abedini
    Department of Chemistry, State University of New York at Stony Brook, Stony Brook, New York 11794 3400, USA
    J Am Chem Soc 129:11300-1. 2007
  73. ncbi Frataxin gene point mutations in Italian Friedreich ataxia patients
    Cinzia Gellera
    UO Biochimica e Genetica, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy
    Neurogenetics 8:289-99. 2007
    ..01) correlation was observed between the size of GAA expansion and the age at onset, thus lending support to the hypothesis that the residual function of frataxin in patients' cells derive exclusively from the expanded allele...
  74. pmc Novel point mutations in the dihydrofolate reductase gene of Plasmodium vivax: evidence for sequential selection by drug pressure
    Mallika Imwong
    Department of Clinical Tropical Medicine, Faculty of Tropical Medicine, Mahidol University, National Science and Technology Development Agency, Bangkok, Thailand
    Antimicrob Agents Chemother 47:1514-21. 2003
    ..Highly mutated genes carry the S-->T rather than the S-->N mutation at residue 117. Mutations at residues 57 and 61 then occur, followed by a fifth mutation at residue 13...
  75. pmc A novel role for XIAP in copper homeostasis through regulation of MURR1
    Ezra Burstein
    Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, MI, USA
    EMBO J 23:244-54. 2004
    ..These findings represent the first described phenotypic alteration in Xiap-deficient mice and demonstrate that XIAP can function through MURR1 to regulate copper homeostasis...
  76. ncbi Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism
    Nicolas Ramoz
    Laboratory of Molecular Neuropsychiatry, Department of Psychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA
    Am J Psychiatry 161:662-9. 2004
    ..In the present study, genes across the 2q24-q33 interval were analyzed to identify an autism susceptibility gene in this region...
  77. ncbi Patterns of p53 G-->T transversions in lung cancers reflect the primary mutagenic signature of DNA-damage by tobacco smoke
    P Hainaut
    International Agency for Research on Cancer WHO, 150 cours Albert Thomas, 69372 Lyon Cedex, France
    Carcinogenesis 22:367-74. 2001
    ..Our data reinforce the notion that p53 mutations in lung cancers can be attributed to direct DNA damage from cigarette smoke carcinogens rather than to selection of pre-existing endogenous mutations...
  78. ncbi EGFR mutation and resistance of non-small-cell lung cancer to gefitinib
    Susumu Kobayashi
    Division of Hematology Oncology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, USA
    N Engl J Med 352:786-92. 2005
    ..The DNA sequence of the EGFR gene in his tumor biopsy specimen at relapse revealed the presence of a second point mutation, resulting in threonine-to-methionine amino acid change at position 790 of EGFR...
  79. ncbi Dynamin GTPase domain mutants that differentially affect GTP binding, GTP hydrolysis, and clathrin-mediated endocytosis
    Byeong Doo Song
    Department of Cell Biology, The Scripps Research Institute, La Jolla, California 92037, USA
    J Biol Chem 279:40431-6. 2004
    ....
  80. pmc Male infertility-linked point mutation disrupts the Ca2+ oscillation-inducing and PIP(2) hydrolysis activity of sperm PLCζ
    Michail Nomikos
    Cell Signalling Laboratory, Wales Heart Research Institute, Cardiff University School of Medicine, Cardiff CF14 4XN, UK
    Biochem J 434:211-7. 2011
    ..Wild-type PLCζ initiated a normal pattern of Ca2+ oscillations in eggs in the presence of 10-fold higher mutant PLCζ, suggesting that infertility is not mediated by a dominant-negative mechanism...
  81. pmc A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia
    Emily E Devlin
    Hematopoiesis Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute NHGRI, Bethesda, MD, USA
    Blood 116:2826-35. 2010
    ..RNA profiling demonstrated more than 700 dysregulated genes belonging to the same pathways that are disrupted in RNA profiles of DBA patient cells. We conclude that RPS19R62W is a dominant negative DBA mutation...
  82. pmc Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A-->G
    Steve E Durham
    Mitochondrial Research Group, Newcastle University, Newcastle, UK
    Am J Hum Genet 81:189-95. 2007
    ....
  83. pmc Insertion and deletion processes in recent human history
    Per Sjödin
    Bioinformatics Research Center, C F Møllers Alle, Arhus, Denmark
    PLoS ONE 5:e8650. 2010
    ..A fundamental question in this respect is whether insertions and deletions are governed by similar or different processes and, if so, what these differences are...
  84. doi A single point mutation in ricin A-chain increases toxin degradation and inhibits EDEM1-dependent ER retrotranslocation
    Iwona Sokołowska
    Department of Molecular Biology, University of Gdansk, Kładki 24, 80 822 Gdansk, Poland
    Biochem J 436:371-85. 2011
    ..In the present study, we introduced a point mutation [P250A (substitution of Pro250 with alanine)] in the hydrophobic region of RTA to study the intracellular ..
  85. ncbi Cancer-associated mutations are preferentially distributed in protein kinase functional sites
    Jose M G Izarzugaza
    Structural Biology and Biocomputing Programme, Spanish National Cancer Research Centre CNIO, C Melchor Fernandez Almagro 3, Madrid E28029, Spain
    Proteins 77:892-903. 2009
    ..The detailed analysis of protein kinase groups and a number of relevant examples, confirm the relation between cancer associated-driver-mutations and key regions for protein kinase structure and function...
  86. ncbi Insecticide resistance and its association with target-site mutations in natural populations of Anopheles gambiae from eastern Uganda
    Urvashi Ramphul
    Vector Group, Liverpool School of Tropical Medicine, Pembroke Place, Liverpool L3 5QA, UK
    Trans R Soc Trop Med Hyg 103:1121-6. 2009
    ..Intriguingly, the association between DDT resistance and the presence of L1014S is consistent with a co-dominant effect, with heterozygous individuals showing an intermediate phenotype...
  87. ncbi Fly-TILL: reverse genetics using a living point mutation resource
    Jennifer L Cooper
    Howard Hughes Medical Institute and Basic Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109 1024, USA
    Fly (Austin) 2:300-2. 2008
    ..We anticipate that our findings will help guide the future implementation of point-mutation resources for the Drosophila community...
  88. ncbi The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
    T Vulliamy
    Department of Haematology, Division of Investigative Science, Faculty of Medicine, Imperial College School of Science, Technology and Medicine, Hammersmith Hospital, DuCane Road, London W12 ONN, UK
    Nature 413:432-5. 2001
    ..Affected members of this family have an 821-base-pair deletion on chromosome 3q that removes the 3' 74 bases of hTR. Mutations in hTR were found in two other families with autosomal dominant dyskeratosis congenita...
  89. ncbi Point-mutation effects on charge-transport properties of the tumor-suppressor gene p53
    Chi Tin Shih
    Department of Physics, Tunghai University, 40704 Taichung, Taiwan
    Phys Rev Lett 100:018105. 2008
    ..This suggests that charge transport could play a significant role for DNA-repairing deficiency yielding carcinogenesis...
  90. ncbi The Escherichia coli ibpA thermometer is comprised of stable and unstable structural elements
    Torsten Waldminghaus
    Lehrstuhl für Biologie der Mikroorganismen, Ruhr Universitat Bochum, Bochum, Germany
    RNA Biol 6:455-63. 2009
    ..Our study demonstrates how the combination of stable and unstable modules controls translation efficiency in a complete RNA thermometer...
  91. pmc Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia
    D D De Vries
    Department of Pediatrics and Human Genetics, University Hospital Nijmegen, The Netherlands
    Am J Hum Genet 58:703-11. 1996
    ..Biochemical analysis of a muscle biopsy revealed a severe complex I deficiency, providing a link between these unique mtDNA mutations and this rare, complex phenotype including Leber optic neuropathy...
  92. ncbi An Msh2 point mutation uncouples DNA mismatch repair and apoptosis
    Diana P Lin
    Department of Cell Biology, Albert Einstein College of Medicine, Bronx, New York, USA
    Cancer Res 64:517-22. 2004
    ....
  93. ncbi Sequence analysis of Hungarian LHON patients not carrying the common primary mutations
    J Horvath
    Department of Neurology and Neurosciences, Geneva University Hospital, Switzerland
    J Inherit Metab Dis 25:323-4. 2002
    ..We report three novel mutations, one of which might have a pathogenic role...
  94. ncbi Amino acid mutations in Plasmodium vivax DHFR and DHPS from several geographical regions and susceptibility to antifolate drugs
    Alyson Auliff
    Department of Drug Resistance and Diagnostics, Australian Army Malaria Institute, Brisbane, QLD, Australia
    Am J Trop Med Hyg 75:617-21. 2006
    ..Parasites with the S58R/S117N dhfr allelic type showed an MIC level for pyrimethamine and cycloguanil comparable to that previously reported, but were susceptible to WR99210...
  95. pmc The yeast counterparts of human 'MELAS' mutations cause mitochondrial dysfunction that can be rescued by overexpression of the mitochondrial translation factor EF-Tu
    M Feuermann
    Laboratoire de Genetique Moleculaire, Institut de Genetique et Microbiologie, Batiment 400, Universite Paris Sud, 91405 Orsay Cedex, France
    EMBO Rep 4:53-8. 2003
    ....
  96. ncbi Plasmodium vivax dihydrofolate reductase point mutations from the Indian subcontinent
    Suminder Kaur
    International Centre for Genetic Engineering and Biotechnology, Aruna Asaf Ali Marg, New Delhi 110067, India
    Acta Trop 97:174-80. 2006
    ..Whether these novel mutations are linked to pyrimethamine resistance remains to be established...
  97. pmc An amphipathic motif at the transmembrane-cytoplasmic junction prevents autonomous activation of the thrombopoietin receptor
    Judith Staerk
    Ludwig Institute for Cancer Research, Universite Catholique de Louvain, Avenue Hippocrate 74, UCL 75 4, 1200 Brussels, Belgium
    Blood 107:1864-71. 2006
    ..These residues may be targets for activating mutations in humans. Such a motif may exist in other receptors to prevent ligand-independent activation and to allow signaling via multiple flexible interfaces...
  98. ncbi Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin
    Sathya R Sriram
    Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Hum Mol Genet 14:2571-86. 2005
    ....
  99. ncbi A G-to-A transition at the fifth position of intron-32 of the dystrophin gene inactivates a splice-donor site both in vivo and in vitro
    Hoai Thu Thi Tran
    Department of Pediatrics, Kobe University Graduate School of Medicine, 7 5 1 Kusunokicho, Chuo, Kobe 650 0017, Japan
    Mol Genet Metab 85:213-9. 2005
    ..Our results indicate that the in vitro splicing system is a powerful tool for determining the underlying mechanism of a disease-causing mutation in a splicing consensus sequence...
  100. ncbi Remarkable infidelity of polymerase gammaA associated with mutations in POLG1 exonuclease domain
    R Del Bo
    Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Universita degli Studi di Milano, I R C C S Ospedale Maggiore Policlinico, Milan
    Neurology 61:903-8. 2003
    ..To better understand the still unknown pathologic mechanism involved in the accumulation of multiple mtDNA deletions in stable tissues...
  101. pmc The distribution of fitness effects caused by single-nucleotide substitutions in an RNA virus
    Rafael Sanjuan
    Institut Cavanilles de Biodiversitat i Biologia Evolutiva, Universitat de Valencia, P O Box 22085, 46071 Valencia, Spain
    Proc Natl Acad Sci U S A 101:8396-401. 2004
    ..The proportion of beneficial mutations was unexpectedly high. Beneficial effects followed a gamma distribution, with expected fitness increases of 1% for random mutations and 5% for preobserved mutations...

Research Grants80

  1. Integrating Diagnostics with Therapeutic Strategies in Chronic Myeloid Leukemia
    Vivian G Oehler; Fiscal Year: 2010
    ..The goal of the T315I point mutation studies is to determine whether early T315I mutation detection can be used to guide therapeutic choices;the ..
  2. Innate Immunity in Experimental Arthritis of Kininogen
    Robert Colman; Fiscal Year: 2005
    ..We have found that these rats have a single point mutation $511N leading to N-glycosylation which increases the susceptibility of HK to proteolysis...
  3. Innate Immunity in Experimental Arthritis of Kininogen
    Robert Colman; Fiscal Year: 2007
    ..We have found that these rats have a single point mutation $511N leading to N-glycosylation which increases the susceptibility of HK to proteolysis...
  4. Innate Immunity in Experimental Arthritis of Kininogen
    Robert Colman; Fiscal Year: 2006
    ..We have found that these rats have a single point mutation $511N leading to N-glycosylation which increases the susceptibility of HK to proteolysis...
  5. Innate Immunity in Experimental Arthritis of Kininogen
    Robert Colman; Fiscal Year: 2005
    ..We have found that these rats have a single point mutation $511N leading to N-glycosylation which increases the susceptibility of HK to proteolysis...
  6. Innate Immunity in Experimental Arthritis of Kininogen
    Robert Colman; Fiscal Year: 2004
    ..We have found that these rats have a single point mutation $511N leading to N-glycosylation which increases the susceptibility of HK to proteolysis...
  7. MR Monitoring of PTC124 Treatment in DMD
    KRISTA H VANDENBORNE; Fiscal Year: 2010
    ..Up to 15% of boys with DMD fail to make dystrophin because of a point mutation that creates a premature stop codon in the dystrophin mRNA...
  8. MR Monitoring of PTC124 Treatment in DMD
    Krista Vandenborne; Fiscal Year: 2009
    ..Up to 15% of boys with DMD fail to make dystrophin because of a point mutation that creates a premature stop codon in the dystrophin mRNA...
  9. BONE MATRIX AND BONE RESORPTION
    Paul R Odgren; Fiscal Year: 2010
    ..Our colleagues also recently discovered a dominant point mutation (R714C) in PLEKHM1 in a patient with low bone mass and focal sclerosis which we propose is a gain-of- function ..
  10. BONE MATRIX AND BONE RESORPTION
    PAUL ODGREN; Fiscal Year: 2009
    ..Our colleagues also recently discovered a dominant point mutation (R714C) in PLEKHM1 in a patient with low bone mass and focal sclerosis which we propose is a gain-of- function ..
  11. NEW GENE THERAPY FOR CONNECTIVE TISSUE DISEASES
    Eric Kmiec; Fiscal Year: 1999
    Many inherited connective tissue diseases result from a point mutation or frame-shift mutation...
  12. Molecular Physiology of Myotonia and Periodic Paralysis
    Stephen Cannon; Fiscal Year: 2009
    ..4), to address the very interesting mechanistic question of how a point mutation in a single gene may cause myotonia, periodic paralysis, or a combination of both in the same individual...
  13. Gonadotropins & Cox-2 in Ovarian Cancer Prevention
    XIANGXI MIKE XU; Fiscal Year: 2010
    ..The Wv mice harbor a point mutation in c-Kit that reduces the tyrosine kinase activity to about 1-5% (not a null mutation)...
  14. Delivery of Soluble FGFR3 as a Treatment for Achondroplasia
    Steven C Ghivizzani; Fiscal Year: 2010
    ..In 98% of those with achondroplasia, the phenotype is caused by a specific point mutation in FGFR3, resulting in the substitution arginine for glycine at position 380 (Gly380Arg)...
  15. MOLECULAR ANALYSIS OF CONGENITAL ANOPHTHALMIA
    Thomas Glaser; Fiscal Year: 2001
    ..In preliminary studies, we discovered that eyl is a point mutation in the Rx/rax rednal homeobox gene...
  16. BIOSYNTHESIS OF BLOOD CLOTTING PROTEINS
    Bruce Furie; Fiscal Year: 1992
    ..the marked sequence homology of the propeptide of the vitamin K-dependent proteins and our observation that a point mutation at residue -1 in Factor IX impairs gamma-carboxylation, we believe that the propeptide is the recognition site ..
  17. Genetic Analysis of FAK Activity
    David D Schlaepfer; Fiscal Year: 2010
    ..To support this model, we have generated a kinase-dead (KD) knock in point mutation (Lys-454 to Arg, R454) in exon 21 of mouse fak by homologous recombination...
  18. Genetic Analysis of FAK Activity
    David Schlaepfer; Fiscal Year: 2009
    ..To support this model, we have generated a kinase-dead (KD) knockin point mutation (Lys-454 to Arg, R454) in exon 21 of mouse fak by homologous recombination...
  19. MOTOR FUNCTION OF CARDIAC B MYOSIN MUTANTS
    Mitsuo Ikebe; Fiscal Year: 1999
    ..b>Point mutation at the S2 region may cause changes in the assembly of myosin molecules thus reducing the efficiency of ..
  20. Regulation of Angiogenesis by Kininogen
    Keith McCrae; Fiscal Year: 2009
    ..Though HKa inhibits angiogenesis, recent studies in the BN-Ka rat, in which a point mutation in the kininogen gene results in deficient kininogen secretion, suggest that kininogen deficiency results in ..
  21. Regulation of Angiogenesis by Kininogen
    Keith R McCrae; Fiscal Year: 2010
    ..Though HKa inhibits angiogenesis, recent studies in the BN-Ka rat, in which a point mutation in the kininogen gene results in deficient kininogen secretion, suggest that kininogen deficiency results in ..
  22. Regulation of Angiogenesis by Kininogen
    Keith R McCrae; Fiscal Year: 2010
    ..Though HKa inhibits angiogenesis, recent studies in the BN-Ka rat, in which a point mutation in the kininogen gene results in deficient kininogen secretion, suggest that kininogen deficiency results in ..
  23. MOLECULAR ANALYSIS OF CONGENITAL ANOPHTHALMIA
    Thomas Glaser; Fiscal Year: 2000
    ..In preliminary studies, we discovered that eyl is a point mutation in the Rx/rax rednal homeobox gene...
  24. MOLECULAR ANALYSIS OF CONGENITAL ANOPHTHALMIA
    Thomas Glaser; Fiscal Year: 2002
    ..In preliminary studies, we discovered that eyl is a point mutation in the Rx/rax rednal homeobox gene...
  25. MOLECULAR ANALYSIS OF CONGENITAL ANOPHTHALMIA
    Thomas Glaser; Fiscal Year: 2004
    ..In preliminary studies, we discovered that eyl is a point mutation in the Rx/rax rednal homeobox gene...
  26. MOLECULAR ANALYSIS OF CONGENITAL ANOPHTHALMIA
    Thomas Glaser; Fiscal Year: 2003
    ..In preliminary studies, we discovered that eyl is a point mutation in the Rx/rax rednal homeobox gene...
  27. Role of JAK2V617F in the Pathogenesis of Myeloproliferative Disorders.
    M Golam Mohi; Fiscal Year: 2009
    ..A somatic point mutation (V617F) in the Janus Kinase 2 (JAK2) has been found in majority of patients with polycythemia vera (PV), ..
  28. Role of JAK2V617F in the Pathogenesis of Myeloproliferative Disorders.
    M Golam Mohi; Fiscal Year: 2009
    ..A somatic point mutation (V617F) in the Janus Kinase 2 (JAK2) has been found in majority of patients with polycythemia vera (PV), ..
  29. Role of JAK2V617F in the Pathogenesis of Myeloproliferative Disorders.
    M Golam Mohi; Fiscal Year: 2010
    ..A somatic point mutation (V617F) in the Janus Kinase 2 (JAK2) has been found in majority of patients with polycythemia vera (PV), ..
  30. MOLECULAR-NUTRIENT INTERACTIONS IN INTESTINAL CANCER
    Leonard Augenlicht; Fiscal Year: 2004
    ..made at Einstein/Montefiore, including the Apc1636+/- mouse, the Muc2-/- mouse and a new mouse model with a point mutation that mimics a true human pathogenic allele, the Msh2G674S mouse, will be studied for modulation of cell ..
  31. Regulation of Angiogenesis by Kininogen
    Keith R McCrae; Fiscal Year: 2011
    ..Though HKa inhibits angiogenesis, recent studies in the BN-Ka rat, in which a point mutation in the kininogen gene results in deficient kininogen secretion, suggest that kininogen deficiency results in ..
  32. HEPATITIS C VIRUS IN ETIOLOGY OF WA RHEUMATOID FACTORS
    Vincent Agnello; Fiscal Year: 2000
    ..that initially a WA+ RF- IgM is produced and that rheumatoid factor activity arises as a result of a point mutation in the CDR3 with chronic HCV infection...
  33. HEPATITIS C VIRUS IN ETIOLOGY OF WA RHEUMATOID FACTORS
    Vincent Agnello; Fiscal Year: 1999
    ..that initially a WA+ RF- IgM is produced and that rheumatoid factor activity arises as a result of a point mutation in the CDR3 with chronic HCV infection...
  34. HEPATITIS C VIRUS IN ETIOLOGY OF WA RHEUMATOID FACTORS
    Vincent Agnello; Fiscal Year: 2001
    ..that initially a WA+ RF- IgM is produced and that rheumatoid factor activity arises as a result of a point mutation in the CDR3 with chronic HCV infection...
  35. HEPATITIS C VIRUS IN ETIOLOGY OF WA RHEUMATOID FACTORS
    Vincent Agnello; Fiscal Year: 2000
    ..that initially a WA+ RF- IgM is produced and that rheumatoid factor activity arises as a result of a point mutation in the CDR3 with chronic HCV infection...
  36. NEU ONCOGENE IN HUMAN PROSTATE CANCER PROGRESSION
    Haiyen Zhau; Fiscal Year: 1993
    ..Detailed structural and functional analysis of the neu oncogene revealed that a single-point mutation occurring at the transmembrane domain of this oncogene was responsible for the conversion of the normal neu to ..
  37. Animal models to examine role of ZPR1 protein complexes
    Laxman Gangwani; Fiscal Year: 2009
    ..We will create Zpr1 knock-in mice with a double point mutation and a quadruple point mutation that disrupts interaction of ZPR1 with eEF1A and result in moderate and severe ..
  38. Animal models to examine role of ZPR1 protein complexes
    LAXMAN DASS GANGWANI; Fiscal Year: 2010
    ..We will create Zpr1 knock-in mice with a double point mutation and a quadruple point mutation that disrupts interaction of ZPR1 with eEF1A and result in moderate and severe ..
  39. Animal Models of P. Vera
    Jerry Spivak; Fiscal Year: 2007
    ..extent, idiopathic myelofibrosis (IM) and essential thrombocytosis (ET), while in African Americans, an Mpl point mutation (K39N) was associated with thrombocytosis...
  40. Animal Models of P. Vera
    Jerry Spivak; Fiscal Year: 2006
    ..extent, idiopathic myelofibrosis (IM) and essential thrombocytosis (ET), while in African Americans, an Mpl point mutation (K39N) was associated with thrombocytosis...
  41. Core--Canine
    Timothy Nichols; Fiscal Year: 2005
    ..as a sex-linked recessive traits; hemophilia A is due to an intron 22 inversion and hemophilia B is due to a point mutation in the catalytic domain of F.IX...
  42. Msec Polymerase Chain Reaction with fMolar Detection Sensitivity using SPR
    DONALD ROPER; Fiscal Year: 2006
    ..2004) with point mutation selectivity factors of ~105:1 (Park et al., 2002)...
  43. Msec Polymerase Chain Reaction with fMolar Detection Sensitivity using SPR
    DONALD ROPER; Fiscal Year: 2007
    ..2004) with point mutation selectivity factors of ~105:1 (Park et al., 2002)...
  44. GENETIC ASPECTS OF DNA METHYLATION
    ERIC SELKER; Fiscal Year: 1991
    ..This, together with the ability to induce methylation of selected chromosomal regions by RIP (repeat-induced point mutation) opens the way to determine experimentally what triggers methylation...
  45. GENETIC ASPECTS OF DNA METHYLATION
    ERIC SELKER; Fiscal Year: 1993
    ..This, together with the ability to induce methylation of selected chromosomal regions by RIP (repeat-induced point mutation) opens the way to determine experimentally what triggers methylation...
  46. A fully integrated assay and platform for detecting Clostridium difficile
    Bruce Irvine; Fiscal Year: 2009
    ..difficile, BI/NAP1, has a single point mutation in this gene that results in a premature stop codon...
  47. GENETIC ASPECTS OF DNA METHYLATION
    ERIC SELKER; Fiscal Year: 1992
    ..This, together with the ability to induce methylation of selected chromosomal regions by RIP (repeat-induced point mutation) opens the way to determine experimentally what triggers methylation...
  48. A fully integrated assay and platform for detecting Clostridium difficile
    BRUCE D IRVINE; Fiscal Year: 2010
    ..difficile, BI/NAP1, has a single point mutation in this gene that results in a premature stop codon...
  49. ERROR CORRECTION IN DNA SYNTHESIS--A BIOCHEMICAL STUDY
    MYRON GOODMAN; Fiscal Year: 2007
    ..syndrome and ADA deficiency are two examples of inherited childhood diseases that can arise from a single point mutation. Activation of oncogenes and inactivation of tumor suppressor genes leading to cancer can result from single ..
  50. STRUCTURE AND DYNAMICS OF CONNEXIN26 GAP JUNCTIONS
    GINA SOSINSKY; Fiscal Year: 2007
    ..We will construct two Cx26 mutants (P97L and T135A), each containing a single point mutation in one of the transmembrane helices that changes the effective pore properties...
  51. BONE MATRIX AND BONE RESORPTION
    PAUL ODGREN; Fiscal Year: 2009
    ..In contrast, a point mutation, R714C, was recently discovered by our collaborators in a human patient, which appears to cause excessive ..
  52. GYRATE ATROPHY-MODEL FOR MOLECULAR STUDY OF EYE DISEASES
    George Inana; Fiscal Year: 1991
    ..The specific nature of each defect, be it gene deletion, rearrangement, point mutation or other changes will be identified...
  53. Translational Research in the Dystrophinopathies
    Kevin Flanigan; Fiscal Year: 2002
    ..Dystrophin gene deletion testing is commercially and readily available, but point mutation testing is not...
  54. DETECTION OF MINIMAL RESIDUAL DISEASE IN ACUTE LEUKEMIA
    Jerry Radich; Fiscal Year: 1991
    ..gamma (in T cells) gene rearrangement as a "fingerprint" of the malignant clone, in AML we will use the point mutation of the N-ras oncogene as the leukemia-specific marker...
  55. Molecular Studies of Immunoparasitology in Snails
    Si Ming Zhang; Fiscal Year: 2007
    ..glabrata generates a surprising diversity of FREP genes through point mutation and recombination, a discovery that along with work in other labs has provoked a general reconsideration of ..
  56. Molecular Studies of Immunoparasitology in Snails
    Si Ming Zhang; Fiscal Year: 2009
    ..glabrata generates a surprising diversity of FREP genes through point mutation and recombination, a discovery that along with work in other labs has provoked a general reconsideration of ..
  57. Genetic diversity
    OUSMANE KIOTA; Fiscal Year: 2001
    ..It is well established that point mutation confers resistance of parasite to pyrimethamine and sulfadoxine and also that antigen polymorphisms hamper the ..
  58. AMYLOIDOSIS AND ALZHEIMER'S DISEASE
    Blas Frangione; Fiscal Year: 1991
    ..We also detected a point mutation in the DNA segment coding for the AP in two patients, that caused the substitution of Gln for Glu at position ..
  59. The Human Colorectal Instabilitome
    Stephen Meltzer; Fiscal Year: 2004
    ..biallelic inactivation of genes showing frequent frameshift mutation by analyzing for loss of heterozygosity, point mutation, and altered expression; 2.b To determine functional differences between WT and mutant candidate proteins...
  60. The Human Colorectal Instabilitome
    Stephen Meltzer; Fiscal Year: 2005
    ..biallelic inactivation of genes showing frequent frameshift mutation by analyzing for loss of heterozygosity, point mutation, and altered expression; 2.b To determine functional differences between WT and mutant candidate proteins...
  61. The Human Colorectal Instabilitome
    Stephen Meltzer; Fiscal Year: 2003
    ..biallelic inactivation of genes showing frequent frameshift mutation by analyzing for loss of heterozygosity, point mutation, and altered expression; 2.b To determine functional differences between WT and mutant candidate proteins...
  62. The Human Colorectal Instabilitome
    Stephen Meltzer; Fiscal Year: 2006
    ..biallelic inactivation of genes showing frequent frameshift mutation by analyzing for loss of heterozygosity, point mutation, and altered expression; 2.b To determine functional differences between WT and mutant candidate proteins...
  63. The Human Colorectal Instabilitome
    Stephen Meltzer; Fiscal Year: 2007
    ..biallelic inactivation of genes showing frequent frameshift mutation by analyzing for loss of heterozygosity, point mutation, and altered expression; 2.b To determine functional differences between WT and mutant candidate proteins...
  64. Thyroid hormone receptors - regulation and function
    MITCHELL LAZAR; Fiscal Year: 2009
    ..To discover what those functions are, we have generated mice with a point mutation in the N-CoR DAD domain that prevents HDAC3 interaction...
  65. Role of Sterols and Insulin in Cardiac Autonomic Response
    JONAS BERNARD GALPER; Fiscal Year: 2010
    ..We previously demonstrated that the Akita diabetic mouse, which has a point mutation in the pro-insulin gene (ins2), demonstrates a markedly decreased response to parasympathetic stimulation of ..
  66. Integrating Diagnostics with Therapeutic Strategies in Chronic Myeloid Leukemia
    Vivian Oehler; Fiscal Year: 2009
    ..The goal of the T315I point mutation studies is to determine whether early T315I mutation detection can be used to guide therapeutic choices;the ..
  67. Development of Chemical Chaperonin for Medium Chain Acyl-CoA Dehydrogenase Defici
    Al Walid Mohsen; Fiscal Year: 2009
    ..A single mutation in the MCAD gene (a G985A point mutation) has been identified in 90% of the alleles in the MCAD gene in deficient patients...
  68. Development of Chemical Chaperonin for Medium Chain Acyl-CoA Dehydrogenase Defici
    AL WALID ABDEL MOHSEN; Fiscal Year: 2010
    ..A single mutation in the MCAD gene (a G985A point mutation) has been identified in 90% of the alleles in the MCAD gene in deficient patients...
  69. MOLECULAR-NUTRIENT INTERACTIONS IN INTESTINAL CANCER
    Leonard Augenlicht; Fiscal Year: 2003
    ..made at Einstein/Montefiore, including the Apc1636+/- mouse, the Muc2-/- mouse and a new mouse model with a point mutation that mimics a true human pathogenic allele, the Msh2G674S mouse, will be studied for modulation of cell ..
  70. MOLECULAR-NUTRIENT INTERACTIONS IN INTESTINAL CANCER
    Leonard Augenlicht; Fiscal Year: 2007
    ..made at Einstein/Montefiore, including the Apc1636+/- mouse, the Muc2-/- mouse and a new mouse model with a point mutation that mimics a true human pathogenic allele, the Msh2G674S mouse, will be studied for modulation of cell ..
  71. MOLECULAR-NUTRIENT INTERACTIONS IN INTESTINAL CANCER
    Leonard Augenlicht; Fiscal Year: 2006
    ..made at Einstein/Montefiore, including the Apc1636+/- mouse, the Muc2-/- mouse and a new mouse model with a point mutation that mimics a true human pathogenic allele, the Msh2G674S mouse, will be studied for modulation of cell ..
  72. Pl3K Regulation of Microbicidal Pathways in Macrophages in Experimental Colitis
    Erin C Steinbach; Fiscal Year: 2010
    ..colitis in a novel mouse model of IBD where the phosphatidylinositol-3-kinase (PI3K) p110( subunit contains a point mutation (p110d[D910A/D910A])...
  73. MOLECULAR-NUTRIENT INTERACTIONS IN INTESTINAL CANCER
    Leonard Augenlicht; Fiscal Year: 2005
    ..made at Einstein/Montefiore, including the Apc1636+/- mouse, the Muc2-/- mouse and a new mouse model with a point mutation that mimics a true human pathogenic allele, the Msh2G674S mouse, will be studied for modulation of cell ..