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Author Details

Minae Kawashima
Database Center for Life Science
1999
51
22
PMIDPaper TitleJournal TitlePublished Year
37994973rs10924104 in the expression enhancer motif of CD58 confers susceptibility to human autoimmune diseases.Hum Genet2024
36639314Corrigendum to: "An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs" [J Hepatol 75 (2021) 572-581].J Hepatol2023
37325616Novel <i>HLA</i> allele associations with susceptibility, staging, symptomatic state, autoimmune hepatitis and hepatocellular carcinoma events for primary biliary cholangitis in the Japanese population.Front Immunol2023
34864633rs9459874 and rs1012656 in CCR6/FGFR1OP confer susceptibility to primary biliary cholangitis.J Autoimmun2022
36539398The NBDC-DDBJ imputation server facilitates the use of controlled access reference panel datasets in Japan.Hum Genome Var2022
36509753TogoVar: A comprehensive Japanese genetic variation database.Hum Genome Var2022
36271469rs2013278 in the multiple immunological-trait susceptibility locus CD28 regulates the production of non-functional splicing isoforms.Hum Genomics2022
34820659The Data Use Ontology to streamline responsible access to human biomedical datasets.Cell Genom2021
33633225rs1944919 on chromosome 11q23.1 and its effector genes COLCA1/COLCA2 confer susceptibility to primary biliary cholangitis.Sci Rep2021
32363322Integrated GWAS and mRNA Microarray Analysis Identified IFNG and CD40L as the Central Upstream Regulators in Primary Biliary Cholangitis.Hepatol Commun2020
30528300NFKB1 and MANBA Confer Disease Susceptibility to Primary Biliary Cholangitis via Independent Putative Primary Functional Variants.Cell Mol Gastroenterol Hepatol2019
30643196POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33.Sci Rep2019
29351777Are minor alleles more likely to be risk alleles?BMC Med Genomics2018
30087368Increased expression and altered localization of cathepsin Z are associated with progression to jaundice stage in primary biliary cholangitis.Sci Rep2018
29773854Genome-wide haplotype association analysis of primary biliary cholangitis risk in Japanese.Sci Rep2018
29379193The inclusion of genomic data in the 2015 revision of Japan's Protection of Personal Information Act: protection of wider range of genomic data as our next challenge.J Hum Genet2018
29795304NELFCD and CTSZ loci are associated with jaundice-stage progression in primary biliary cholangitis in the Japanese population.Sci Rep2018
28062665Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population.Hum Mol Genet2017
28424481The first genome-wide association study identifying new susceptibility loci for obstetric antiphospholipid syndrome.J Hum Genet2017
28588209Identification of the functional variant driving ORMDL3 and GSDMB expression in human chromosome 17q12-21 in primary biliary cholangitis.Sci Rep2017
28894202Principal contribution of HLA-DQ alleles, DQB1*06:04 and DQB1*03:01, to disease resistance against primary biliary cholangitis in a Japanese population.Sci Rep2017
27082423Erratum: Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals.Hum Genome Var2016
27507062Fine-mapping analysis revealed complex pleiotropic effect and tissue-specific regulatory mechanism of TNFSF15 in primary biliary cholangitis, Crohn's disease and leprosy.Sci Rep2016
25589039How should the legal framework for the protection of human genomic data be formulated?-Implications from the revision processes of the Act on the Protection of Personal Information (PPI Act).J Hum Genet2015
27081536Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals.Hum Genome Var2015
26153892Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array.PLoS One2015
26084578Disease susceptibility genes shared by primary biliary cirrhosis and Crohn's disease in the Japanese population.J Hum Genet2015
25899471Human primary biliary cirrhosis-susceptible allele of rs4979462 enhances TNFSF15 expression by binding NF-1.Hum Genet2015
25707395High-accuracy imputation for HLA class I and II genes based on high-resolution SNP data of population-specific references.Pharmacogenomics J2015
24016146Systemic and local expression levels of TNF-like ligand 1A and its decoy receptor 3 are increased in primary biliary cirrhosis.Liver Int2014
24520320New susceptibility and resistance HLA-DP alleles to HBV-related diseases identified by a trans-ethnic association study in Asia.PLoS One2014
24067293Systematic evaluation of personal genome services for Japanese individuals.J Hum Genet2013
22737229Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.PLoS One2012
23000144Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.Am J Hum Genet2012
23056460Evolutionary analysis of classical HLA class I and II genes suggests that recent positive selection acted on DPB1*04:01 in Japanese population.PLoS One2012
21170044Common variants in P2RY11 are associated with narcolepsy.Nat Genet2011
21358852Abnormally low serum acylcarnitine levels in narcolepsy patients.Sleep2011
19927159Polymorphism located in TCRA locus confers susceptibility to essential hypersomnia with HLA-DRB1*1501-DQB1*0602 haplotype.J Hum Genet2010
21102981Post-H1N1 narcolepsy-cataplexy.Sleep2010
20614846Anti-Tribbles homolog 2 (TRIB2) autoantibodies in narcolepsy are associated with recent onset of cataplexy.Sleep2010
20677014An approach based on a genome-wide association study reveals candidate loci for narcolepsy.Hum Genet2010
19404393Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia).PLoS One2009
17597377Cytocompatibility of calcium phosphate coatings deposited by an ArF pulsed laser.J Mater Sci Mater Med2008
18820697Variant between CPT1B and CHKB associated with susceptibility to narcolepsy.Nat Genet2008
18809466Establishment of human cell lines showing circadian rhythms of bioluminescence.Neurosci Lett2008
18695938Appropriate data cleaning methods for genome-wide association study.J Hum Genet2008
17387597Cytocompatibility of calcium phosphate coatings deposited by an ArF pulsed laser.J Mater Sci Mater Med2007
16826516Genomewide association analysis of human narcolepsy and a new resistance gene.Am J Hum Genet2006
11285131Case-control study with narcoleptic patients and healthy controls who, like the patients, possess both HLA-DRB1*1501 and -DQB1*0602.Tissue Antigens2001
11144293Significant association of the tumor necrosis factor receptor 2 (TNFR2) gene with human narcolepsy.Tissue Antigens2000
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Collaborators

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Co-authored papers 3
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University of Cambridge
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Co-authored papers 2
Osaka University
Co-authored papers 2
Tohoku University Graduate School of Medicine
Co-authored papers 1
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National Institute of Genetics
Co-authored papers 1
Patient-Centered Outcomes Research Institute
Co-authored papers 1
University of Cape Town
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University of Luxembourg
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European Bioinformatics Institute (EMBL-EBI)
Co-authored papers 1
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Victor Chang Cardiac Research Institute
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Mayo Clinic
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National Cancer Institute
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University of Leicester
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Berlin Institute of Health at Charite - Universitatsmedizin Berlin
Co-authored papers 1