J A Morris
Affiliation: Merck Research Laboratories
- The genomic organization and polymorphism analysis of the human Niemann-Pick C1 geneJ 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...
- Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis geneS 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...
- Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasisE D Carstea
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
Science 277:228-31. 1997....
- Niemann-Pick C disease: cholesterol handling gone awryJ 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...
- Positional cloning utilizing genomic DNA microarrays: the Niemann-Pick type C gene as a model systemD 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...
- Substantial narrowing of the Niemann-Pick C candidate interval by yeast artificial chromosome complementationJ 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...
- NPC1 gene mutations in Japanese patients with Niemann-Pick disease type CT 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...
- Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotypeG 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...
- 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...