吉村淳 (Jun Yoshimura) - マイポータル

基本情報

所属: 東京大学大学院新領域創成科学研究科メディカル情報生命専攻特任助教

ORCID iD: https://orcid.org/0000-0003-2988-1123
J-GLOBAL ID: 202001017827989793
researchmap会員ID: R000011129

論文

Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population

Naruse, Hiroya, Ishiura, Hiroyuki, Mitsui, Jun, Takahashi, Yuji, Matsukawa, Takashi, Yoshimura, Jun, Doi, Koichiro, Morishita, Shinichi, Goto, Jun, Toda, Tatsushi …

Journal of Human Genetics 66(3) 237-241 2021年
Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis

Naruse, Hiroya, Ishiura, Hiroyuki, Mitsui, Jun, Takahashi, Yuji, Matsukawa, Takashi, Sakuishi, Kaori, Nakamagoe, Kiyotaka, Miyake, Zenshi, Tamaoka, Akira, Goto, Jun …

neurogenetics 22(1) 11-17 2021年
Hamster PIWI proteins bind to piRNAs with stage-specific size variations during oocyte maturation

Ishino, Kyoko, Hasuwa, Hidetoshi, Yoshimura, Jun, Iwasaki, Yuka W, Nishihara, Hidenori, Seki, Naomi M, Hirano, Takamasa, Tsuchiya, Marie, Ishizaki, Hinako, Masuda, Harumi …

bioRxiv 2020年
Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2

Teranishi, Yu, Miyawaki, Satoru, Hongo, Hiroki, Dofuku, Shogo, Okano, Atsushi, Takayanagi, Shunsaku, Ota, Takahiro, Yoshimura, Jun, Qu, Wei, Mitsui, Jun …

Journal of Medical Genetics 2020年
Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis

Hongo, Hiroki, Miyawaki, Satoru, Imai, Hideaki, Shimizu, Masahiro, Yagi, Shinichi, Mitsui, Jun, Ishiura, Hiroyuki, Yoshimura, Jun, Doi, Koichiro, Qu, Wei …

Scientific reports 10(1) 11942-11942 2020年
Clinical and molecular genetic characterization of two female patients harboring the Xq27. 3q28 deletion with different ratios of X chromosome inactivation

Katoh, Kimiko, Aiba, Kaori, Fukushi, Daisuke, Yoshimura, Jun, Suzuki, Yasuyo, Mitsui, Jun, Morishita, Shinichi, Tuji, Shoji, Yamada, Kenichiro, Wakamatsu, Nobuaki

Human Mutation 41(8) 1447-1460 2020年
A Novel de novoKIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, And Spastic Paraplegia

Kurihara, Masanori, Ishiura, Hiroyuki, Bannai, Taro, Mitsui, Jun, Yoshimura, Jun, Morishita, Shinichi, Hayashi, Toshihiro, Shimizu, Jun, Toda, Tatsushi, Tsuji, Shoji

Internal Medicine 3661-19 2020年
Long-read metagenomic exploration of extrachromosomal mobile genetic elements in the human gut

Suzuki, Yoshihiko, Nishijima, Suguru, Furuta, Yoshikazu, Yoshimura, Jun, Suda, Wataru, Oshima, Kenshiro, Hattori, Masahira, Morishita, Shinichi

Microbiome 7(1) 1-16 2019年
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

Ishiura, Hiroyuki, Shibata, Shota, Yoshimura, Jun, Suzuki, Yuta, Qu, Wei, Doi, Koichiro, Almansour, M Asem, Kikuchi, Junko K, a, Taira, Makiko …

Nature genetics 51(8) 1222-1232 2019年
Sporadic progressive myoclonic epilepsy with early-onset dementia caused by a de novo mutation in PSEN1

Taminato, Tomoya, Araki, Manabu, Sato, Noriko, Ishiura, Hiroyuki, Mitsui, Jun, Yoshimura, Jun, Doi, Koichiro, Morishita, Shinichi, Tsuji, Shoji, Takahashi, Yuji

Neurology and Clinical Neuroscience 7(5) 294-296 2019年
Recompleting the Caenorhabditis elegans genome

Yoshimura, Jun, Ichikawa, Kazuki, Shoura, Massa J, Artiles, Karen L, Gabdank, Idan, Wahba, Lamia, Smith, Cheryl L, Edgley, Mark L, Rougvie, Ann E, Fire, Andrew Z …

Genome research 29(6) 1009-1022 2019年
Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletion

Ichinose, Yuta, Ishiura, Hiroyuki, Tanaka, Masaki, Yoshimura, Jun, Doi, Koichiro, Umeda, Takako, Yamauchi, Hajime, Tsuchiya, Mai, Koh, Kishin, Yamashiro, Nobuo …

Parkinsonism & related disorders 61 57-63 2019年
Ataxic phenotype with altered CaV3. 1 channel property in a mouse model for spinocerebellar ataxia 42

Hashiguchi, Shunta, Doi, Hiroshi, Kunii, Misako, Nakamura, Yukihiro, Shimuta, Misa, Suzuki, Etsuko, Koyano, Shigeru, Okubo, Masaki, Kishida, Hitaru, Shiina, Masaaki …

Neurobiology of disease 130 104516-104516 2019年
Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS

Naruse, Hiroya, Ishiura, Hiroyuki, Mitsui, Jun, Takahashi, Yuji, Matsukawa, Takashi, Tanaka, Masaki, Doi, Koichiro, Yoshimura, Jun, Morishita, Shinichi, Goto, Jun …

Journal of Neurology, Neurosurgery & Psychiatry 90(5) 537-542 2019年
Novel de novo KCND3 mutation in a Japanese patient with intellectual disability, cerebellar ataxia, myoclonus, and dystonia

Kurihara, Masanori, Ishiura, Hiroyuki, Sasaki, Takuya, Otsuka, Juuri, Hayashi, Toshihiro, Terao, Yasuo, Matsukawa, Takashi, Mitsui, Jun, Kaneko, Juntaro, Nishiyama, Kazutoshi …

The Cerebellum 17(2) 237-242 2018年
Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation

Naruse, Hiroya, Ishiura, Hiroyuki, Mitsui, Jun, Date, Hidetoshi, Takahashi, Yuji, Matsukawa, Takashi, Tanaka, Masaki, Ishii, Akiko, Tamaoka, Akira, Hokkoku, Keiichi …

Neurobiology of aging 61 255-e9 2018年
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy

Higuchi, Yujiro, Okunushi, Ryuta, Hara, Taichi, Hashiguchi, Akihiro, Yuan, Junhui, Yoshimura, Akiko, Murayama, Kei, Ohtake, Akira, Ando, Masahiro, Hiramatsu, Yu …

Brain 141(6) 1622-1636 2018年
Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis

Tohnai, Genki, Nakamura, Ryoichi, Sone, Jun, Nakatochi, Masahiro, Yokoi, Daichi, Katsuno, Masahisa, Watanabe, Hazuki, Watanabe, Hirohisa, Ito, Mizuki, Li, Yuanzhe …

Neurobiology of aging 64 158-e15 2018年
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

Ishiura, Hiroyuki, Doi, Koichiro, Mitsui, Jun, Yoshimura, Jun, Matsukawa, Miho Kawabe, Fujiyama, Asao, Toyoshima, Yasuko, Kakita, Akiyoshi, Takahashi, Hitoshi, Suzuki, Yutaka …

Nature genetics 50(4) 581-590 2018年
Whole exome sequencing analysis revealed complex genetic architecture of early-onset spinocerebellar degeneration in the Japanese Population

Hama, Y, Kanai, M, Watanabe, S, Ishiura, H, Mitsui, J, Yoshimura, J, Doi, K, Morishita, S, Tsuji, S, Murata, M …

Journal of the Neurological Sciences 381 54-54 2017年

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