J A Morris

Summary

Affiliation: Merck Research Laboratories
Country: USA

Publications

  1. ncbi request reprint The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene
    J A Morris
    National Institute of Neurological Disorders and Stroke, National Institutes of Health NIH, Bethesda, Maryland, 20892, USA
    Biochem Biophys Res Commun 261:493-8. 1999
  2. ncbi request reprint Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene
    S K Loftus
    Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health NIH, Bethesda, MD 20892, USA
    Science 277:232-5. 1997
  3. ncbi request reprint Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis
    E D Carstea
    National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Science 277:228-31. 1997
  4. ncbi request reprint Niemann-Pick C disease: cholesterol handling gone awry
    J A Morris
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Med Today 4:525-31. 1998
  5. ncbi request reprint Positional cloning utilizing genomic DNA microarrays: the Niemann-Pick type C gene as a model system
    D A Stephan
    Cancer Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA
    Mol Genet Metab 70:10-8. 2000
  6. pmc Substantial narrowing of the Niemann-Pick C candidate interval by yeast artificial chromosome complementation
    J Z Gu
    Laboratory of Gene Transfer, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 94:7378-83. 1997
  7. ncbi request reprint NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C
    T Yamamoto
    Gene Research Center, Tottori University, Yonago, Japan
    Hum Genet 105:10-6. 1999
  8. pmc Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype
    G Millat
    INSERM 189, Lyon Sud Medical School, Oullins, France
    Am J Hum Genet 65:1321-9. 1999
  9. ncbi request reprint How many deleterious mutations are there in the human genome?
    J A Morris
    Consultant Pathologist, Royal Lancaster Infirmary, Lancaster, UK
    Med Hypotheses 56:646-52. 2001

Collaborators

Detail Information

Publications9

  1. ncbi request reprint The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene
    J A Morris
    National Institute of Neurological Disorders and Stroke, National Institutes of Health NIH, Bethesda, Maryland, 20892, USA
    Biochem Biophys Res Commun 261:493-8. 1999
    ..The CpG island is located in the 5' flanking sequence, exon 1 and the 5' end of intron 1. We have also identified multiple single nucleotide polymorphisms in the coding and intronic sequences...
  2. ncbi request reprint Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene
    S K Loftus
    Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health NIH, Bethesda, MD 20892, USA
    Science 277:232-5. 1997
    ..The mouse model may provide an important resource for studying the role of NPC1 in cholesterol homeostasis and neurodegeneration and for assessing the efficacy of new drugs for NP-C disease...
  3. ncbi request reprint Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis
    E D Carstea
    National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Science 277:228-31. 1997
    ....
  4. ncbi request reprint Niemann-Pick C disease: cholesterol handling gone awry
    J A Morris
    Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Med Today 4:525-31. 1998
    ..The recent identification of the NPC gene, NPC1, provides a definitive diagnosis of the disease and a means of studying this key component of intracellular cholesterol transport and homeostasis...
  5. ncbi request reprint Positional cloning utilizing genomic DNA microarrays: the Niemann-Pick type C gene as a model system
    D A Stephan
    Cancer Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA
    Mol Genet Metab 70:10-8. 2000
    ..This technique should facilitate gene identification when a physical contig exists for a region of interest and mutations result in changes in the mRNA level of the disease gene or portions thereof...
  6. pmc Substantial narrowing of the Niemann-Pick C candidate interval by yeast artificial chromosome complementation
    J Z Gu
    Laboratory of Gene Transfer, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 94:7378-83. 1997
    ..This is the first demonstration of YAC complementation as a valuable adjunct strategy for positional cloning of a human gene...
  7. ncbi request reprint NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C
    T Yamamoto
    Gene Research Center, Tottori University, Yonago, Japan
    Hum Genet 105:10-6. 1999
    ..Of the 14 mutations, the G1553A substitution that caused a splicing error of exon 9 appeared to be relatively common in Japanese patients, because two patients were homozygous and one patient was compound heterozygous for this mutation...
  8. pmc Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype
    G Millat
    INSERM 189, Lyon Sud Medical School, Oullins, France
    Am J Hum Genet 65:1321-9. 1999
    ..The mutation was not found (0/40 alleles) in patients with the severe infantile neurological form of the disease. Testing for this mutation therefore has important implications for genetic counseling of families affected by NPC...
  9. ncbi request reprint How many deleterious mutations are there in the human genome?
    J A Morris
    Consultant Pathologist, Royal Lancaster Infirmary, Lancaster, UK
    Med Hypotheses 56:646-52. 2001
    ..The zygotes that survive to contribute to the next generation have a skewed distribution with a mean of Y. It is argued that the number of deleterious mutations in the genome is an important variable in health and disease...