Search Results - "Chikashi Terao"
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Revisited HLA and non-HLA genetics of Takayasu arteritis--where are we?
Published in Journal of human genetics (01-01-2016)“…Takayasu arteritis (TAK) is an immune-mediated vasculitis affecting large arteries first reported in 1908 from Japan. Case reports of familial onset of TAK…”
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Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing
Published in Genome Biology (03-06-2019)“…Structural variations (SVs) or copy number variations (CNVs) greatly impact the functions of the genes encoded in the genome and are responsible for diverse…”
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The Impact of Cigarette Smoking on Risk of Rheumatoid Arthritis: A Narrative Review
Published in Cells (Basel, Switzerland) (19-02-2020)“…Rheumatoid arthritis (RA) is an autoimmune disease characterized by chronic inflammation and subsequent proliferation of synovial tissues, which eventually…”
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How to conduct research of rare autoimmune diseases
Published in Modern rheumatology (03-09-2018)“…Rare autoimmune diseases are difficult to conduct researches in spite of present era with advanced scientific progress. Research using genetic approach is a…”
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Improving the trans-ancestry portability of polygenic risk scores by prioritizing variants in predicted cell-type-specific regulatory elements
Published in Nature genetics (01-12-2020)“…Poor trans-ancestry portability of polygenic risk scores is a consequence of Eurocentric genetic studies and limited knowledge of shared causal variants…”
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Genetics of autosomal mosaic chromosomal alteration (mCA)
Published in Journal of human genetics (01-09-2021)“…Mosaic chromosomal alterations (mCAs) are frequently observed in cancer cells and are regarded as one of the common features of cancers. Strikingly,…”
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Chromosomal alterations among age-related haematopoietic clones in Japan
Published in Nature (London) (06-08-2020)“…The extent to which the biology of oncogenesis and ageing are shaped by factors that distinguish human populations is unknown. Haematopoietic clones with…”
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Genetic analysis of IgG4-related disease
Published in Modern rheumatology (02-01-2020)“…IgG4-related disease (IgG4-RD) is an emerging concept of a novel clinical entity, characterized by the swelling of the affected organs, increase in serum total…”
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Helicobacter pylori, Homologous-Recombination Genes, and Gastric Cancer
Published in The New England journal of medicine (30-03-2023)“…Infection with Helicobacter pylori is known to confer a risk of gastric cancer. In this study, persons who carried certain genetic variants and were infected…”
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Eight novel susceptibility loci and putative causal variants in atopic dermatitis
Published in Journal of allergy and clinical immunology (01-11-2021)“…Atopic dermatitis (AD) is the most common allergic disease in the world. While genetic components play critical roles in its pathophysiology, a large…”
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Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection
Published in Nature medicine (01-06-2021)“…Age is the dominant risk factor for infectious diseases, but the mechanisms linking age to infectious disease risk are incompletely understood. Age-related…”
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Comparative evaluation of SNVs, indels, and structural variations detected with short- and long-read sequencing data
Published in Human genome variation (17-04-2024)“…Short- and long-read sequencing technologies are routinely used to detect DNA variants, including SNVs, indels, and structural variations (SVs). However, the…”
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Linking of genetic risk variants to disease-specific gene expression via multi-omics studies in rheumatoid arthritis
Published in Seminars in arthritis and rheumatism (01-12-2019)“…Rheumatoid arthritis (RA) is an autoimmune disease of unknown pathologic mechanism. Extensive single-level analyses have been conducted, including genome-wide…”
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A case of retinitis pigmentosa homozygous for a rare CNGA1 causal variant
Published in Scientific reports (25-02-2021)“…Retinitis pigmentosa (RP) is a heterogenous hereditary disorder leading to blindness. Despite using next-generation sequencing technologies, causal variants in…”
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Genetic variants of calcium and vitamin D metabolism in kidney stone disease
Published in Nature communications (15-11-2019)“…Kidney stone disease (nephrolithiasis) is a major clinical and economic health burden with a heritability of ~45–60%. We present genome-wide association…”
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Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus
Published in Annals of the rheumatic diseases (01-05-2021)“…Systemic lupus erythematosus (SLE), an autoimmune disorder, has been associated with nearly 100 susceptibility loci. Nevertheless, these loci only partially…”
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Prevalence and factors associated with sarcopenia in patients with rheumatoid arthritis
Published in Modern rheumatology (04-07-2019)“…Objectives: Sarcopenia is characterized by loss of muscle strength and mass, leading to falls and adverse health outcomes. Our aim was to determine the…”
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Functional annotation of human long noncoding RNAs via molecular phenotyping
Published in Genome research (01-07-2020)“…Long noncoding RNAs (lncRNAs) constitute the majority of transcripts in the mammalian genomes, and yet, their functions remain largely unknown. As part of the…”
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Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis
Published in Nature medicine (01-07-2021)“…Clonal hematopoiesis (CH) in apparently healthy individuals is implicated in the development of hematological malignancies (HM) and cardiovascular diseases…”
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A susceptibility locus in the IL12B but not LILRA3 region is associated with vascular damage in Takayasu arteritis
Published in Scientific reports (01-07-2021)“…HLA-B*52 is an established genetic factor in Takayasu arteritis (TAK). Recently, single nucleotide polymorphisms (SNPs) in IL12B (rs6871626) and LILRA3…”
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