M. Kawashima

发表

How 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)

Kazuto Kato, Natsuko Yamamoto, M. Kawashima, 2015, Journal of Human Genetics.

Significant association of the tumor necrosis factor receptor 2 (TNFR2) gene with human narcolepsy.

K. Tokunaga, M. Kawashima, H. Hohjoh, 2000, Tissue antigens.

Common variants in P2RY11 are associated with narcolepsy

Christian Gieger, Poul Jennum, Thomas Meitinger, 2010, Nature Genetics.

Erratum: Common variants in P2RY11 are associated with narcolepsy

C. Gieger, N. Risch, P. Kwok, 2011, Nature Genetics.

Polymorphism located in TCRA locus confers susceptibility to essential hypersomnia with HLA-DRB1*1501-DQB1*0602 haplotype

K. Tokunaga, Susumu Tanaka, M. Kawashima, 2010, Journal of Human Genetics.

Post-H1N1 narcolepsy-cataplexy.

A. Desautels, E. Mignot, J. Montplaisir, 2010, Sleep.

Post-H 1 N 1 Narcolepsy-Cataplexy

A. Desautels, E. Mignot, J. Montplaisir, 2010 .

Absence of anti-aquaporin-4 antibodies in narcolepsy

Susumu Tanaka, M. Kawashima, M. Honda, 2009 .

The 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

Kazuto Kato, Natsuko Yamamoto, M. Kawashima, 2018, Journal of Human Genetics.

Fine-mapping analysis revealed complex pleiotropic effect and tissue-specific regulatory mechanism of TNFSF15 in primary biliary cholangitis, Crohn’s disease and leprosy

Jianjun Liu, M. Nagasaki, A. Irwanto, 2016, Scientific Reports.

NARCOLEPSY-CATAPLEXY, A DISEASE CAUSED BY THE LOSS OF ~70,000 HYPOCRETIN CELLS IN THE HY-

A. Desautels, E. Mignot, J. Montplaisir, 2010 .

rs2013278 in the multiple immunological-trait susceptibility locus CD28 regulates the production of non-functional splicing isoforms

M. Nagasaki, K. Tokunaga, N. Miyake, 2022, Human Genomics.

Increased expression and altered localization of cathepsin Z are associated with progression to jaundice stage in primary biliary cholangitis

Masahiro Ito, K. Tokunaga, K. Migita, 2018, Scientific Reports.

NELFCD and CTSZ loci are associated with jaundice-stage progression in primary biliary cholangitis in the Japanese population

Y. Maehara, M. Nagasaki, K. Tokunaga, 2018, Scientific Reports.

Erratum: Narcolepsy is strongly associated with the T-cell receptor alpha locus

C. Gieger, N. Risch, P. Kwok, 2009, Nature Genetics.

An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs

Alexander E. Lopez, Aaron M. King, Andrew L Blumenfeld, 2021, Journal of hepatology.

Principal contribution of HLA-DQ alleles, DQB1*06:04 and DQB1*03:01, to disease resistance against primary biliary cholangitis in a Japanese population

K. Tokunaga, Y. Hitomi, M. Kawashima, 2017, Scientific Reports.

Systemic and local expression levels of TNF‐like ligand 1A and its decoy receptor 3 are increased in primary biliary cirrhosis

Masahiro Ito, K. Tokunaga, K. Migita, 2014, Liver international : official journal of the International Association for the Study of the Liver.

Case-control study with narcoleptic patients and healthy controls who, like the patients, possess both HLA-DRB1*1501 and -DQB1*0602.

K. Tokunaga, M. Kawashima, H. Hohjoh, 2001, Tissue antigens.

Narcolepsy is strongly associated with the TCR alpha locus

C. Gieger, N. Risch, P. Kwok, 2009, Nature Genetics.

TogoVar: A comprehensive Japanese genetic variation database

T. Takagi, Toshiaki Katayama, S. Kawashima, 2022, Human Genome Variation.

The NBDC-DDBJ imputation server facilitates the use of controlled access reference panel datasets in Japan

T. Takagi, T. Fujisawa, T. Hachiya, 2022, Human genome variation.

Genome-Wide Association Study Confirming Association of HLA-DP with Protection against Chronic Hepatitis B and Viral Clearance in Japanese and Korean

A. Koike, T. Ide, M. Honda, 2012, PloS one.

New Susceptibility and Resistance HLA-DP Alleles to HBV-Related Diseases Identified by a Trans-Ethnic Association Study in Asia

T. Ide, M. Honda, S. Kaneko, 2014, PloS one.

NFKB1 and MANBA Confer Disease Susceptibility to Primary Biliary Cholangitis via Independent Putative Primary Functional Variants

M. Nagasaki, K. Tokunaga, Y. Hitomi, 2018, Cellular and molecular gastroenterology and hepatology.

POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33

Y. Maehara, M. Honda, O. Yokosuka, 2019, Scientific Reports.

Evolutionary Analysis of Classical HLA Class I and II Genes Suggests That Recent Positive Selection Acted on DPB1*04∶01 in Japanese Population

K. Tokunaga, J. Ohashi, M. Kawashima, 2012, PloS one.

The first genome-wide association study identifying new susceptibility loci for obstetric antiphospholipid syndrome

K. Tokunaga, H. Sawai, Y. Omae, 2017, Journal of Human Genetics.

rs9459874 and rs1012656 in CCR6/FGFR1OP confer susceptibility to primary biliary cholangitis.

H. Cordell, G. Mells, Y. Hitomi, 2021, Journal of autoimmunity.

X chromosome contribution to the genetic architecture of primary biliary cholangitis.

Aaron M. King, Elizabeth G. Atkinson, K. Siminovitch, 2021, Gastroenterology.

rs1944919 on chromosome 11q23.1 and its effector genes COLCA1/COLCA2 confer susceptibility to primary biliary cholangitis

M. Nagasaki, K. Tokunaga, Y. Hitomi, 2021, Scientific Reports.

Integrated GWAS and mRNA Microarray Analysis Identified IFNG and CD40L as the Central Upstream Regulators in Primary Biliary Cholangitis

M. Nagasaki, K. Tokunaga, K. Migita, 2020, Hepatology communications.

NELFCD and CTSZ loci are associated with jaundice-stage progression in primary biliary cholangitis in the Japanese population

Y. Maehara, M. Nagasaki, K. Tokunaga, 2018, Scientific Reports.

Principal contribution of HLA-DQ alleles, DQB1*06:04 and DQB1*03:01, to disease resistance against primary biliary cholangitis in a Japanese population

K. Tokunaga, Y. Hitomi, M. Kawashima, 2017, Scientific Reports.

Identification of the functional variant driving ORMDL3 and GSDMB expression in human chromosome 17q12-21 in primary biliary cholangitis

M. Nagasaki, K. Tokunaga, Y. Hitomi, 2017, Scientific Reports.

Human primary biliary cirrhosis-susceptible allele of rs4979462 enhances TNFSF15 expression by binding NF-1

K. Tokunaga, Y. Hitomi, M. Kawashima, 2015, Human Genetics.

High-accuracy imputation for HLA class I and II genes based on high-resolution SNP data of population-specific references

N. Kamatani, S. Kamitsuji, H. Sawai, 2015, The Pharmacogenomics Journal.

Appropriate data cleaning methods for genome-wide association study

S. Tsuji, A. Koike, A. Fujimoto, 2008, Journal of Human Genetics.

Anti-Tribbles homolog 2 (TRIB2) autoantibodies in narcolepsy are associated with recent onset of cataplexy.

E. Mignot, G. Plazzi, S. Nevsimalova, 2010, Sleep.

Systematic evaluation of personal genome services for Japanese individuals

Takashi Kido, Melanie Swan, Seiji Nishino, 2013, Journal of Human Genetics.

Genome‐wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population

Y. Maehara, K. Chayama, M. Honda, 2017, Human molecular genetics.

Disease susceptibility genes shared by primary biliary cirrhosis and Crohn’s disease in the Japanese population

T. Matsui, M. Kubo, A. Takahashi, 2015, Journal of Human Genetics.

Genome-wide haplotype association analysis of primary biliary cholangitis risk in Japanese

Y. Sapkota, K. Tokunaga, W. Moon, 2018, Scientific Reports.

Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.

Y. Maehara, M. Honda, S. Kaneko, 2012, American journal of human genetics.

Genomewide association analysis of human narcolepsy and a new resistance gene.

H. Inoko, K. Tokunaga, G. Tamiya, 2006, American journal of human genetics.

Variant between CPT1B and CHKB associated with susceptibility to narcolepsy

Emmanuel Mignot, Katsushi Tokunaga, Shinichi Morishita, 2008, Nature Genetics.

Abnormally low serum acylcarnitine levels in narcolepsy patients.

K. Tokunaga, Susumu Tanaka, M. Kawashima, 2011, Sleep.

Polymorphism Located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 Haplotype Confer Susceptibility to CNS Hypersomnias (Essential Hypersomnia)

K. Tokunaga, Susumu Tanaka, M. Kawashima, 2009, PloS one.

POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33

Y. Maehara, M. Honda, O. Yokosuka, 2019, Scientific Reports.

Are minor alleles more likely to be risk alleles?

A. Butte, D. Hadley, M. Sirota, 2018, BMC Medical Genomics.

The Data Use Ontology to streamline responsible access to human biomedical datasets

Matthew H. Brush, J. D. Spalding, Rebecca R. Boyles, 2021, Cell genomics.

Narcolepsy is strongly associated with the T-cell receptor alpha locus (vol 41, pg 708, 2009)

Christian Gieger, Thomas Meitinger, Emmanuel Mignot, 2014 .

Increased expression and altered localization of cathepsin Z are associated with progression to jaundice stage in primary biliary cholangitis

K. Tokunaga, K. Migita, K. Harada, 2018, Scientific Reports.

Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array

K. Tokunaga, K. Ozono, S. Kitanaka, 2015, PloS one.

Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals

Khun Zaw Latt, N. Matsumoto, K. Tokunaga, 2015, Human Genome Variation.

Novel HLA allele associations with susceptibility, staging, symptomatic state, autoimmune hepatitis and hepatocellular carcinoma events for primary biliary cholangitis in the Japanese population

K. Tokunaga, Y. Hitomi, M. Kawashima, 2023, Frontiers in Immunology.

Corrigendum to: "An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs" [J Hepatol 75 (2021) 572-581].

K. Siminovitch, H. Cordell, M. Seldin, 2023, Journal of hepatology.

Corrigendum to ‘An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs’ [J Hepatol 2021;75(3):572–581]

Alexander E. Lopez, Aaron M. King, Andrew L Blumenfeld, 2021, Journal of hepatology.

An approach based on a genome-wide association study reveals candidate loci for narcolepsy

K. Tokunaga, Susumu Tanaka, M. Kawashima, 2010, Human Genetics.

Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals

Khun Zaw Latt, N. Kato, N. Matsumoto, 2016, Human Genome Variation.

Common variants in P 2 RY 11 are associated with narcolepsy

C. Gieger, N. Risch, P. Kwok, 2010 .

Establishment of human cell lines showing circadian rhythms of bioluminescence

K. Tokunaga, T. Ebisawa, M. Ikeda, 2008, Neuroscience Letters.

Are minor alleles more likely to be risk alleles?

A. Butte, D. Hadley, M. Sirota, 2018, BMC Medical Genomics.

Human primary biliary cirrhosis-susceptible allele of rs4979462 enhances TNFSF15 expression by binding NF-1

K. Tokunaga, Y. Hitomi, M. Kawashima, 2015, Human Genetics.