Significance of functional disease-causal/susceptible variants identified by whole-genome analyses for the understanding of human diseases

por HITOMI, Yuki, TOKUNAGA, Katsushi
Publicado 2017

The Genetics of Primary Biliary Cholangitis: A GWAS and Post-GWAS Update

por Hitomi, Yuki, Nakamura, Minoru
Publicado 2023

Human CD72 splicing isoform responsible for resistance to systemic lupus erythematosus regulates serum immunoglobulin level and is localized in endoplasmic reticulum

por Hitomi, Yuki, Adachi, Takahiro, Tsuchiya, Naoyuki, Honda, Zen-Ichiro, Tokunaga, Katsushi, Tsubata, Takeshi
Publicado 2012

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

por Yasunami, Michio, Nakamura, Hitomi, Tokunaga, Katsushi, Kawashima, Minae, Nishida, Nao, Hitomi, Yuki, Nakamura, Minoru
Publicado 2017

Coronin-1 is phosphorylated at Thr-412 by protein kinase Cα in human phagocytic cells

por Oku, Teruaki, Kaneko, Yutaka, Ishii, Rie, Hitomi, Yuki, Tsuiji, Makoto, Toyoshima, Satoshi, Tsuji, Tsutomu
Publicado 2021

Analysis of whole Y-chromosome sequences reveals the Japanese population history in the Jomon period

por Watanabe, Yusuke, Naka, Izumi, Khor, Seik-Soon, Sawai, Hiromi, Hitomi, Yuki, Tokunaga, Katsushi, Ohashi, Jun
Publicado 2019

Demographic history of Ryukyu islanders at the southern part of the Japanese Archipelago inferred from whole-genome resequencing data

por Koganebuchi, Kae, Matsunami, Masatoshi, Imamura, Minako, Kawai, Yosuke, Hitomi, Yuki, Tokunaga, Katsushi, Maeda, Shiro, Ishida, Hajime, Kimura, Ryosuke
Publicado 2023

HLA-VBSeq v2: improved HLA calling accuracy with full-length Japanese class-I panel

por Wang, Yen-Yen, Mimori, Takahiro, Khor, Seik-Soon, Gervais, Olivier, Kawai, Yosuke, Hitomi, Yuki, Tokunaga, Katsushi, Nagasaki, Masao
Publicado 2019

Regional heritability mapping identifies several novel loci (STAT4, ULK4, and KCNH5) for primary biliary cholangitis in the Japanese population

por Gervais, Olivier, Ueno, Kazuko, Kawai, Yosuke, Hitomi, Yuki, Aiba, Yoshihiro, Ueta, Mayumi, Nakamura, Minoru, Tokunaga, Katsushi, Nagasaki, Masao
Publicado 2021

Genomic Heritabilities and Correlations of 17 Traits Related to Obesity and Associated Conditions in the Japanese Population

por Gervais, Olivier, Ueno, Kazuko, Kawai, Yosuke, Hitomi, Yuki, Misawa, Kazuharu, Teraguchi, Shunsuke, Wang, Yen-Yen, Tokunaga, Katsushi, Nagasaki, Masao
Publicado 2020

Mapping of susceptible variants for cold medicine-related Stevens–Johnson syndrome by whole-genome resequencing

por Kawai, Yosuke, Hitomi, Yuki, Ueta, Mayumi, Khor, Seik-Soon, Nakatani, Ken, Sotozono, Chie, Kinoshita, Shigeru, Nagasaki, Masao, Tokunaga, Katsushi
Publicado 2021

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

por Hitomi, Yuki, Kojima, Kaname, Kawashima, Minae, Kawai, Yosuke, Nishida, Nao, Aiba, Yoshihiro, Yasunami, Michio, Nagasaki, Masao, Nakamura, Minoru, Tokunaga, Katsushi
Publicado 2017

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

por Hitomi, Yuki, Nakatani, Ken, Kojima, Kaname, Nishida, Nao, Kawai, Yosuke, Kawashima, Minae, Aiba, Yoshihiro, Nagasaki, Masao, Nakamura, Minoru, Tokunaga, Katsushi
Publicado 2018

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

por Khor, Seik-Soon, Ueno, Kazuko, Nishida, Nao, Kawashima, Minae, Kawai, Yosuke, Aiba, Yoshihiro, Hitomi, Yuki, Nagasaki, Masao, Nakamura, Minoru, Tokunaga, Katsushi
Publicado 2023

Clinical application of exome sequencing in undiagnosed genetic conditions

por Need, Anna C, Shashi, Vandana, Hitomi, Yuki, Schoch, Kelly, Shianna, Kevin V, McDonald, Marie T, Meisler, Miriam H, Goldstein, David B
Publicado 2012

Identification of HLA-A*02:06:01 as the primary disease susceptibility HLA allele in cold medicine-related Stevens-Johnson syndrome with severe ocular complications by high-resolut...

por Nakatani, Ken, Ueta, Mayumi, Khor, Seik-Soon, Hitomi, Yuki, Okudaira, Yuko, Masuya, Anri, Wada, Yuki, Sotozono, Chie, Kinoshita, Shigeru, Inoko, Hidetoshi, Tokunaga, Katsushi
Publicado 2019

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

por Hitomi, Yuki, Aiba, Yoshihiro, Ueno, Kazuko, Nishida, Nao, Kawai, Yosuke, Kawashima, Minae, Tsuiji, Makoto, Iwabuchi, Chisato, Takada, Sanami, Miyake, Noriko, Nagasaki, Masao, Tokunaga, Katsushi, Nakamura, Minoru
Publicado 2022

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

por Hitomi, Yuki, Aiba, Yoshihiro, Kawai, Yosuke, Kojima, Kaname, Ueno, Kazuko, Nishida, Nao, Kawashima, Minae, Gervais, Olivier, Khor, Seik-Soon, Nagasaki, Masao, Tokunaga, Katsushi, Nakamura, Minoru, Tsuiji, Makoto
Publicado 2021

The association of integration patterns of human papilloma virus and single nucleotide polymorphisms on immune- or DNA repair-related genes in cervical cancer patients

por Joo, Jungnam, Omae, Yosuke, Hitomi, Yuki, Park, Boram, Shin, Hye-Jin, Yoon, Kyong-Ah, Sawai, Hiromi, Tsuiji, Makoto, Hayashi, Tomonori, Kong, Sun-Young, Tokunaga, Katsushi, Kim, Joo-Young
Publicado 2019

Identification of a two-SNP PLA2R1 Haplotype and HLA-DRB1 Alleles as Primary Risk Associations in Idiopathic Membranous Nephropathy

por Latt, Khun Zaw, Honda, Kenjiro, Thiri, Myo, Hitomi, Yuki, Omae, Yosuke, Sawai, Hiromi, Kawai, Yosuke, Teraguchi, Shunsuke, Ueno, Kazuko, Nagasaki, Masao, Mabuchi, Akihiko, Kaga, Hajime, Komatsuda, Atsushi, Tokunaga, Katsushi, Noiri, Eisei
Publicado 2018