National Center Biobank Network

por Omae, Yosuke, Goto, Yu-ichi, Tokunaga, Katsushi
Publicado 2022

5-HT(1A) Receptor Agonist Treatment Partially Ameliorates Rett Syndrome Phenotypes in mecp2-Null Mice by Rescuing Impairment of Neuron Transmission and the CREB/BDNF Signaling Path...

por Dai, Hongmei, Kitami, Yoshikazu, Goto, Yu-ichi, Itoh, Masayuki
Publicado 2022

Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome

por Akahoshi, Keiko, Nakagawa, Eiji, Goto, Yu-ichi, Inoue, Ken
Publicado 2023

Variable phenotypes in a family with mitochondrial encephalomyopathy harboring a 3291T > C mutation in mitochondrial DNA

por Sunami, Yoko, Sugaya, Keizo, Chihara, Norio, Goto, Yu-ichi, Matsubara, Shiro
Publicado 2011

The manner in which DNA is packaged with TFAM has an impact on transcription activation and inhibition

por Furukawa, Ryo, Yamada, Yuma, Matsushima, Yuichi, Goto, Yu-ichi, Harashima, Hideyoshi
Publicado 2012

Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNA(Trp)

por Hatakeyama, Hideyuki, Katayama, Ayako, Komaki, Hirofumi, Nishino, Ichizo, Goto, Yu-ichi
Publicado 2015

Mitochondrial respiratory dysfunction disturbs neuronal and cardiac lineage commitment of human iPSCs

por Yokota, Mutsumi, Hatakeyama, Hideyuki, Ono, Yasuha, Kanazawa, Miyuki, Goto, Yu-ichi
Publicado 2017

Reactive oxygen species stimulate mitochondrial allele segregation toward homoplasmy in human cells

por Ling, Feng, Niu, Rong, Hatakeyama, Hideyuki, Goto, Yu-ichi, Shibata, Takehiko, Yoshida, Minoru
Publicado 2016

Estimation of the Number of Patients With Mitochondrial Diseases: A Descriptive Study Using a Nationwide Database in Japan

por Ibayashi, Koki, Fujino, Yoshihisa, Mimaki, Masakazu, Fujimoto, Kenji, Matsuda, Shinya, Goto, Yu-ichi
Publicado 2023

A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome

por Uchino, Shumpei, Iida, Aritoshi, Sato, Atsushi, Ishikawa, Keiko, Mimaki, Masakazu, Nishino, Ichizo, Goto, Yu-ichi
Publicado 2019

Nervonic acid level in cerebrospinal fluid is a candidate biomarker for depressive and manic symptoms: A pilot study

por Kageyama, Yuki, Deguchi, Yasuhiko, Hattori, Kotaro, Yoshida, Sumiko, Goto, Yu‐ichi, Inoue, Koki, Kato, Tadafumi
Publicado 2021

Interleukin-1beta (IL-1β)-induced Notch ligand Jagged1 suppresses mitogenic action of IL-1β on human dystrophic myogenic cells

por Nagata, Yuki, Kiyono, Tohru, Okamura, Kikuo, Goto, Yu-ichi, Matsuo, Masafumi, Ikemoto-Uezumi, Madoka, Hashimoto, Naohiro
Publicado 2017

Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome

por Takeshita, Eri, Iida, Aritoshi, Abe-Hatano, Chihiro, Nakagawa, Eiji, Sasaki, Masayuki, Inoue, Ken, Goto, Yu-ichi
Publicado 2019

Adult-onset Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke (MELAS)-like Encephalopathy Diagnosed Based on the Complete Sequencing of Mitochondrial DNA Extracte...

por Mukai, Masako, Nagata, Eiichiro, Mizuma, Atsushi, Yamano, Mitsuhiko, Sugaya, Keizo, Nishino, Ichizo, Goto, Yu-ichi, Takizawa, Shunya
Publicado 2017

Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a case report

por Yokota, Yuki, Hara, Makoto, Akimoto, Takayoshi, Mizoguchi, Tomotaka, Goto, Yu-ichi, Nishino, Ichizo, Kamei, Satoshi, Nakajima, Hideto
Publicado 2020

LOX-1 mediates inflammatory activation of microglial cells through the p38-MAPK/NF-κB pathways under hypoxic-ischemic conditions

por Aoki, Yoshinori, Dai, Hongmei, Furuta, Fumika, Akamatsu, Tomohisa, Oshima, Takuya, Takahashi, Naoto, Goto, Yu-ichi, Oka, Akira, Itoh, Masayuki
Publicado 2023

PTPRQ as a potential biomarker for idiopathic normal pressure hydrocephalus

por Nagata, Yuki, Bundo, Masahiko, Sugiura, Saiko, Kamita, Masahiro, Ono, Masaya, Hattori, Kotaro, Yoshida, Sumiko, Goto, Yu-Ichi, Urakami, Katsuya, Niida, Shumpei
Publicado 2017

A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation

por Iida, Aritoshi, Takeshita, Eri, Kosugi, Shunichi, Kamatani, Yoichiro, Momozawa, Yukihide, Kubo, Michiaki, Nakagawa, Eiji, Kurosawa, Kenji, Inoue, Ken, Goto, Yu-ichi
Publicado 2018

A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy

por Sakiyama, Yusuke, Okamoto, Yuji, Higuchi, Itsuro, Inamori, Yukie, Sangatsuda, Yoko, Michizono, Kumiko, Watanabe, Osamu, Hatakeyama, Hideyuki, Goto, Yu-ichi, Arimura, Kimiyoshi, Takashima, Hiroshi
Publicado 2011

Isolated and repeated stroke-like episodes in a middle-aged man with a mitochondrial ND3 T10158C mutation: a case report

por Mezuki, Satomi, Fukuda, Kenji, Matsushita, Tomonaga, Fukushima, Yoshihisa, Matsuo, Ryu, Goto, Yu-ichi, Yasukawa, Takehiro, Uchiumi, Takeshi, Kang, Dongchon, Kitazono, Takanari, Ago, Tetsuro
Publicado 2017