Search Results - "Osabe, Dai"
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Familial juvenile hyperuricemic nephropathy: Detection of mutations in the uromodulin gene in five Japanese families
Published in Kidney international (01-05-2004)“…Familial juvenile hyperuricemic nephropathy: Detection of mutations in the uromodulin gene in five Japanese families. Familial juvenile hyperuricemic…”
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Evaluation of sample size effect on the identification of haplotype blocks
Published in BMC bioinformatics (14-06-2007)“…Genome-wide maps of linkage disequilibrium (LD) and haplotypes have been created for different populations. Substantial sharing of the boundaries and…”
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Journal Article -
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Lack of association of genetic variation in chromosome region 15q14-22.1 with type 2 diabetes in a Japanese population
Published in BMC medical genetics (27-03-2008)“…Chromosome 15q14-22.1 has been linked to type 2 diabetes (T2D) and its related traits in Japanese and other populations. The presence of T2D disease…”
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Journal Article -
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Identification of a Novel Splice Site Mutation of the CSPG2 Gene in a Japanese Family with Wagner Syndrome
Published in Investigative ophthalmology & visual science (01-08-2005)“…To investigate the genetic basis and clinical variability of Wagner syndrome, a rare, dominantly inherited vitreoretinopathy. Clinical examination, linkage…”
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Journal Article -
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Association between single‐nucleotide polymorphisms in the SEC8L1 gene, which encodes a subunit of the exocyst complex, and rheumatoid arthritis in a Japanese population
Published in Arthritis and rheumatism (01-05-2005)“…Objective To identify rheumatoid arthritis (RA) susceptibility genes in a Japanese population by conducting a large‐scale case–control association analysis and…”
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Journal Article -
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Association of single-nucleotide polymorphisms in the suppressor of cytokine signaling 2 ( SOCS2) gene with type 2 diabetes in the Japanese
Published in Genomics (San Diego, Calif.) (01-04-2006)“…Several previous linkage scans in type 2 diabetes (T2D) families indicated a putative susceptibility locus on chromosome 12q15–q22, while the underlying gene…”
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Journal Article -
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Association study on chromosome 20q11.21-13.13 locus and its contribution to type 2 diabetes susceptibility in Japanese
Published in Human genetics (01-11-2006)“…Several linkage studies have predicted that human chromosome 20q is closely related to type 2 diabetes, but there is no clear evidence that certain variant(s)…”
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Journal Article -
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Genetic association between the PRKCH gene encoding protein kinase Cη isozyme and rheumatoid arthritis in the Japanese population
Published in Arthritis and rheumatism (01-01-2007)“…Objective Analyses of families with rheumatoid arthritis (RA) have suggested the presence of a putative susceptibility locus on chromosome 14q21–23. This large…”
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Journal Article -
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Genetic association between the PRKCH gene encoding protein kinase Ceta isozyme and rheumatoid arthritis in the Japanese population
Published in Arthritis and rheumatism (01-01-2007)“…Analyses of families with rheumatoid arthritis (RA) have suggested the presence of a putative susceptibility locus on chromosome 14q21-23. This large…”
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Journal Article -
10
Genetic association between the PRKCH gene encoding protein kinase C[eta] isozyme and rheumatoid arthritis in the Japanese population
Published in Arthritis and rheumatism (01-01-2006)“…Objective: Analyses of families with rheumatoid arthritis (RA) have suggested the presence of a putative susceptibility locus on chromosome 14q21- 23. This…”
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Journal Article