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  • Algorithms  (1)
  • Bronchi/chemistry/cytology  (1)
  • Epigenesis, Genetic  (1)
  • 2000-2004  (2)
  • 1
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    Cis-acting regulatory variation in the human genome (2004)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2004-10-23
    Description: The systematic screening of the human genome for genetic variants that affect gene regulation should advance our fundamental understanding of phenotypic diversity and lead to the identification of alleles that modify disease risk. There are several challenges in localizing regulatory polymorphisms, including the wide spectrum of cis-acting regulatory mechanisms, the inconsistent effects of regulatory variants in different tissues, and the difficulty in isolating the causal variants that are in linkage disequilibrium with many other variants. We discuss the current state of knowledge and technologies used for mapping and characterizing genetic variation controlling human gene expression.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Pastinen, Tomi -- Hudson, Thomas J -- New York, N.Y. -- Science. 2004 Oct 22;306(5696):647-50.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉McGill University and Genome Quebec Innovation Centre, 740 Drive Penfield Avenue, Montreal, Quebec H3A 1A4, Canada.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/15499010" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Allelic Imbalance ; Chromosome Mapping ; Epigenesis, Genetic ; Gene Expression Profiling ; *Gene Expression Regulation ; *Genetic Variation ; *Genome, Human ; Humans ; Linkage Disequilibrium ; Phenotype ; Polymorphism, Genetic ; *Regulatory Sequences, Nucleic Acid
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 2
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    Characterization of a common susceptibility locus for asthma-related traits (2004)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2004-04-10
    Description: Susceptibility to asthma depends on variation at an unknown number of genetic loci. To identify susceptibility genes on chromosome 7p, we adopted a hierarchical genotyping design, leading to the identification of a 133-kilobase risk-conferring segment containing two genes. One of these coded for an orphan G protein-coupled receptor named GPRA (G protein-coupled receptor for asthma susceptibility), which showed distinct distribution of protein isoforms between bronchial biopsies from healthy and asthmatic individuals. In three cohorts from Finland and Canada, single nucleotide polymorphism-tagged haplotypes associated with high serum immunoglobulin E or asthma. The murine ortholog of GPRA was up-regulated in a mouse model of ovalbumin-induced inflammation. Together, these data implicate GPRA in the pathogenesis of atopy and asthma.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Laitinen, Tarja -- Polvi, Anne -- Rydman, Pia -- Vendelin, Johanna -- Pulkkinen, Ville -- Salmikangas, Paula -- Makela, Siru -- Rehn, Marko -- Pirskanen, Asta -- Rautanen, Anna -- Zucchelli, Marco -- Gullsten, Harriet -- Leino, Marina -- Alenius, Harri -- Petays, Tuula -- Haahtela, Tari -- Laitinen, Annika -- Laprise, Catherine -- Hudson, Thomas J -- Laitinen, Lauri A -- Kere, Juha -- New York, N.Y. -- Science. 2004 Apr 9;304(5668):300-4.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉GeneOS Limited, 00251 Helsinki, Finland.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/15073379" target="_blank"〉PubMed〈/a〉
    Keywords: Algorithms ; Alternative Splicing ; Animals ; Asthma/*genetics/metabolism ; Bronchi/chemistry/cytology ; Chromosomes, Human, Pair 7/*genetics ; Epithelial Cells/chemistry ; Female ; Finland ; Gene Expression ; Genes ; Genetic Linkage ; *Genetic Predisposition to Disease ; Genetic Variation ; Genotype ; *Haplotypes ; Humans ; Hypersensitivity/genetics/metabolism ; Immunoglobulin E/blood ; Inflammation/genetics ; Lung/metabolism ; Male ; Mice ; Myocytes, Smooth Muscle/chemistry ; Polymorphism, Single Nucleotide ; Quebec ; Receptors, G-Protein-Coupled/analysis/*genetics
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
    PAPER CURRENT
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