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H

Hirotomo Saitsu

Department of Biochemistry

69H指数
685论文数
1.8W被引数
收录论文 153
发表时间
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Correction: Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder校正：EIF1AX基因半合子失活型变异与综合征性神经发育障碍相关
errEuropean Journal of Human Genetics
IF4.6
err2026-09-11
err0
PREAI
errKazuyuki Komatsu; Atsushi Sugie; Yohei Nitta; Jiro Osaka; Ummul Halilunnisa Mansoor Hussain; Mitsuru Kubota; Nobuyuki Shimozawa; Melissa T. Carter; Petra J. G. Zwijnenburg; Quinten Waisfisz; Felix Boschann; Denise Horn; Mitsuko Nakashima; Hirotomo Saitsu
err分享
err收藏
A novel CACNA1S variant associated with diltiazem-related worsening of hypokalemic periodic paralysis: a case report一种与地尔硫䓬相关的低钾性周期性麻痹恶化的CACNA1S变异：病例报告
errNeurological Sciences
IF2.4
err2026-08-25
err0
PREAI
errHidenori Sugiura; Kazuki Watanabe; Kai Furuhashi; Tatsuhiro Kawano; Akiyuki Takenouchi; Tomoyasu Bunai; Rei Urushibata; Taiju Hayashi; Takuya Hiraide; Tokiko Fukuda; Tsutomu Ogata; Hirotomo Saitsu; Tomohiko Nakamura
err分享
err收藏
Pontocerebellar hypoplasia type 9 with a novel combination of compound heterozygous variants in AMPD2脊髓小脑发育不全9型，伴有AMPD2基因复合杂合新发变异的组合
errHuman Genome Variation
IF1.3
err2026-04-23
err0
errOAAI
errDohi, Shuhei; Hotta, Junko; Ito, Kosuke; Yamashita, Tomoyo; Ono, Chie; Sakuma, Satoru; Komatsu, Kazuyuki; Inoue, Ken; Saitsu, Hirotomo; Hamazaki, Takashi; Seto, Toshiyuki
err分享
err收藏
CaMKIIβ insufficiency disrupts cortical networks, producing aberrant low-gamma oscillations and seizure susceptibilityCaMKIIβ不足扰乱皮层网络，产生异常低伽马振荡和癫痫易感性
errEpilepsia
IF6.6
err2026-04-15
err0
errOAAI
errHiroki Mutoh; Kazushi Aoto; Atsuo Fukuda; Hirotomo Saitsu
err分享
err收藏
Novel HK1 intronic variant in congenital hyperinsulinism: impaired transactivation function for FOXA2先天性高胰岛素血症的新型HK1内含子变异：对FOXA2转激活功能的损害
errEuropean Journal of Endocrinology
IF5.2
err2026-04-01
err0
PREAI
errYamoto, Kaori; Miyamoto, Sachiko; Sano, Shinichiro; Ohkubo, Yumiko; Tanikawa, Wataru; Masunaga, Yohei; Higuchi, Shinji; Mori, Jun; Fujisawa, Yasuko; Saitsu, Hirotomo; Ogata, Tsutomu
err分享
err收藏
A key gene modulating oxytocin efficacy in autism: genome-wide discovery and verification in randomized controlled trials datasets调节自闭症中催产素效能的关键基因：随机对照试验数据集的全基因组发现与验证
errMolecular Psychiatry
IF10.1
err2026-03-28
err0
PREAI
errHitoshi Kuwabara; Masaki Kojima; Seico Benner; Takeshi Otowa; Takamitsu Watanabe; Miho Kuroda; Keiho Owada; Walid Yassin; Junko Hamada; Yukiko Kano; Yota Uno; Itaru Kushima; Daisuke Mori; Yuko Arioka; Toshio Munesue; Kiyoto Kasai; Haruhiro Higashida; Osamu Abe; Hidemasa Takao; Tomoyasu Wakuda; Yosuke Kameno; Jun Inoue; Taeko Harada; Aya Yamauchi; Nanayo Ogawa; Nami Honda; Saya Kikuchi; Moe Seto; Hiroaki Tomita; Noriko Miyoshi; Megumi Matsumoto; Yuko Kawaguchi; Koji Kanai; Manabu Ikeda; Itta Nakamura; Shuichi Isomura; Yoji Hirano; Toshiaki Onitsuka; Nagahide Takahashi; Mitsuko Nakashima; Hirotomo Saitsu; Kenji Kondo; Masashi Ikeda; Nakao Iwata; Mihoko Shimada; Tsukasa Sasaki; Nori Takei; Norio Ozaki; Hirotaka Kosaka; Takashi Okada; Hidenori Yamasue
err分享
err收藏
Genetic diagnosis of sibling cases initiated by identification of outlier gene expression using transcriptome analysis of urine-derived cells通过尿源性细胞转录组分析鉴定离群基因表达而启动的同胞病例遗传诊断
errJournal of Human Genetics
IF2.5
err2026-03-24
err0
PREAI
errToru Takagi; Sachiko Miyamoto; Kenji Shimizu; Yasuhiko Tanaka; Tomoko Matsubayashi; Yohei Masunaga; Hirotomo Saitsu
err分享
err收藏
De novo GNAS-Gsα variant (p.Thr55Ala) with constitutive gain-of-function effects on AVPR2 and PTH1R signalings对AVPR2和PTH1R信号具有结构性功能增益效应的从头GNAS-Gsα 变体 (p.Thr55Ala)
errJournal of Human Genetics
IF2.5
err2026-01-13
err0
PREAI
errMaiko Ikeda; Chikahiko Numakura; Gen Nishimura; Naoya Saijo; Jun Takayama; Yasuko Fujisawa; Toru Sengoku; Kazuhiro Ogata; Hirotomo Saitsu; Tsutomu Ogata
err分享
err收藏
Identification of 5’ untranslated region variants in genes involved in neurodevelopmental disorders
errJournal of Human Genetics
IF2.5
err2026-01-05
err0
PREAI
errTaiju Hayashi; Sachiko Miyamoto; Yusaku Endo; Kenji Shimizu; Yumiko Ohkubo; Kazuyuki Komatsu; Shogo Furukawa; Mitsuko Nakashima; Tokiko Fukuda; Tsutomu Ogata; Takuya Hiraide; Hirotomo Saitsu
err分享
err收藏
Comprehensive Molecular Studies in 88 Japanese Patients With Congenital Hypogonadotropic Hypogonadism88例日本先天性低促性腺激素性性腺功能减退症患者的综合分子学研究
errJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
IF5.1
err2025-10-01
err0
PREAI
errTanikawa, Wataru; Okamoto, Shingo; Ohara, Osamu; Masunaga, Yohei; Yamoto, Kaori; Fujisawa, Yasuko; Ohyama, Ibuki; Saitsu, Hirotomo; Fukami, Maki; Kaname, Tadashi; Ogata, Tsutomu
err分享
err收藏
Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndrome新型双等位基因CDK9变异与不伴有CHARGE样畸形综合征的视网膜营养不良相关
errJournal of Human Genetics
IF2.5
err2025-09-16
err0
errOAAI
errSachiko Nishina; Kaoruko Torii; Shizuka Ishitani; Tomoyo Yoshida; Maki Fukami; Kenji Kurosawa; Kenjiro Kosaki; Hirotomo Saitsu; Tohru Ishitani; Yoshihiro Hotta
err分享
err收藏
Muscle and thyroid manifestations in TANGO2 deficiency disorder: a case study of novel biallelic variantsTANGO2缺乏症的肌肉和甲状腺表现：一种新型双等位基因变异的病例研究
errBRAIN & DEVELOPMENT
IF1.3
err2025-09-01
err0
errOAAI
errSugiyama, Ryo; Shimizu-Motohashi, Yuko; Sakata, Yuka; Omata, Taku; Takanashi, Jun-ichi; Furukawa, Shogo; Nakashima, Mitsuko; Saitsu, Hirotomo; Sato, Noriko; Komaki, Hirofumi
err分享
err收藏
A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant一种与UBQLN2错义变异相关的日本家族性痉挛性截瘫
errJournal of Human Genetics
IF2.5
err2025-08-22
err0
PREAI
errKazuki Watanabe; Tatsuya Ema; Kenji Shimizu; Kosuke Yamada; Mitsuko Nakashima; Hirotomo Saitsu
err分享
err收藏
Symmetrical Acrokeratoderma in a Japanese Patient With Two FLG Nonsense Variants对称性肢端角皮病：一名携带两种FLG无义变异的日本患者
errdermatology
IF0
err2025-08-14
err0
PREAI
errRyosuke Matsumura; Hiroki Morimoto; Kensuke Fukuchi; Hirotomo Saitsu; Tetsuya Honda
err分享
err收藏
Phenotypic variation in a family with GABRG2-related epilepsy caused by a novel missense variantGABRG2相关癫痫家系中由新型错义变异引起的表型变异
errseizure european journal of epilepsy
IF0
err2025-08-10
err0
PREAI
errTakato Akiba; Kaori Yamoto; Takuya Hiraide; Tsutomu Ogata; Tokiko Fukuda; Hirotomo Saitsu; Katsumi Imai
err分享
err收藏
Immunohistochemical and molecular evolutionary features of jejunoileal adenocarcinoma unveiled through comparative analysis with colorectal adenocarcinoma通过与传统结肠直肠癌的比较分析揭示的空肠回肠腺癌的免疫组织化学和分子进化特征
errNeoplasia
IF7.7
err2025-05-21
err0
PREAI
errRei Ishikawa; Hidetaka Yamada; Hirotomo Saitsu; Ryosuke Miyazaki; Juri Takahashi; Rino Takinami; Satoshi Baba; Mitsuko Nakashima; Moriya Iwaizumi; Satoshi Osawa; Hideya Kawasaki; Yoshifumi Arai; Yoshiro Otsuki; Hiroshi Ogawa; Hiroki Mori; Fumihiko Tanioka; Shioto Suzuki; Kazuyo Yasuda; Makoto Suzuki; Haruhiko Sugimura; Kazuya Shinmura
err分享
err收藏
Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases
errBMC MEDICAL INFORMATICS AND DECISION MAKING
IF3.8
err2025-02-05
err0
errOAAI
errShin, Jaemoon; Fujiwara, Toyofumi; Saitsu, Hirotomo; Yamaguchi, Atsuko
err分享
err收藏
Homozygous FIGLA missense variant in two Japanese sisters with primary ovarian insufficiency: Case reports and literature review日本两姐妹原发性卵巢功能不全中的纯合FIGLA错义变异：病例报告与文献综述
errREPRODUCTIVE MEDICINE AND BIOLOGY
IF3.3
err2025-02-01
err1
errOAAI
errWataru Tanikawa; Hirotomo Saitsu; Yasuhiko Nakamura; Yuichiro Shirafuta; Yasuko Fujisawa; Maki Fukami; Norihiro Sugino; Tsutomu Ogata
err分享
err收藏
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing使用外显子组测序鉴定罕见的儿科神经系统疾病中的致病变异
errSCIENTIFIC REPORTS
IF3.9
err2024-10-21
err0
errOAAI
errKomatsu, Kazuyuki; Kato, Mitsuhiro; Kubota, Kazuo; Fukumura, Shinobu; Yamada, Keitaro; Hori, Ikumi; Shimizu, Kenji; Miyamoto, Sachiko; Yamoto, Kaori; Hiraide, Takuya; Watanabe, Kazuki; Aoki, Shintaro; Furukawa, Shogo; Hayashi, Taiju; Isogai, Masaharu; Harasaki, Takuma; Nakashima, Mitsuko; Saitsu, Hirotomo
err分享
err收藏
The non-canonical bivalent gene Wfdc15a controls spermatogenic protease and immune homeostasis
errDEVELOPMENT
IF3.6
err2024-09-17
err1
PREAI
errTomizawa, Shin-ichi; Fellows, Rachel; Ono, Michio; Kuroha, Kazushige; Dockal, Ivana; Kobayashi, Yuki; Minamizawa, Keisuke; Natsume, Koji; Nakajima, Kuniko; Hoshi, Ikue; Matsuda, Shion; Seki, Masahide; Suzuki, Yutaka; Aoto, Kazushi; Saitsu, Hirotomo; Ohbo, Kazuyuki
err分享
err收藏

研究方向

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