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Tomoo Ogi

nagoya university

43H指数
211论文数
8.3K被引数
收录论文 102
发表时间
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Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant长读长RNA测序揭示IFAP综合征患者中一个复发性内含子MBTPS2变异导致广泛的转录本异构体变化
errHuman Genome Variation
IF1.3
err2026-04-14
err0
errOAAI
errIwaki, Toshihiko; Nishio, Yosuke; Takagi, Sachiyo; Fujii, Keiichiro; Fujimoto, Masanori; Sato, Emi; Nakamura, Yuji; Ieda, Daisuke; Negishi, Yutaka; Hattori, Ayako; Ogi, Tomoo; Saitoh, Shinji
err分享
err收藏
RNA damage signaling primes transcription-coupled repairRNA损伤信号启动转录偶联修复
errNATURE STRUCTURAL & MOLECULAR BIOLOGY
IF10.1
err2026-04-01
err0
PREAI
errKotaro Tsukada; Yuka Nakazawa; Tomoo Ogi
err分享
err收藏
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtypecohesin加载器亚基MAU2的致病性变异是独特的Cornelia de Lange综合征亚型的基础
errNature Communications
IF15.7
err2026-03-30
err0
errOAAI
errIlaria Parenti; Alina Hesters; Marta Gil-Salvador; Laura Duffy; Deniz Kanber; Jasmin Beygo; Jennifer Kerkhof; Laura Steenpaß; Elsa Leitão; Julia Woestefeld; Philip M. Boone; Emeline M. Kao; Lama Alabdi; Hesham M. Aldhalaan; Fowzan S. Alkuraya; Muneera J. Alshammari; Stylianos E. Antonarakis; Donald Basel; Kevin Cassinari; Laurana de Polli Cellin; Amanda R. Clause; Alexander Augusto de Lima Jorge; Andréa de Castro Leal; Stephan C. Collins; Benjamin Durand; Juliane Eckhold; Mais O. Hashem; Parul Jayakar; Arif O. Khan; Kohji Kato; Regina Kubica; Gholson J. Lyon; Elaine Marchi; Julie McCarrier; Lara K. Kimmig; Seiji Mizuno; Gael Nicolas; Yosuke Nishio; Tomoo Ogi; Juan Pié; Jordyn Prell; Beatriz Puisac; Feliciano J. Ramos; Emmanuelle Ranza; Claire Redin; Eric Rush; Shinji Saitoh; Hanan E. Shamseldin; Susan Starling; Esteban Astiazaran-Symonds; Sara H. Eltahir; Alma Kuechler; Bekim Sadikovic; Binnaz Yalcin; Kerstin S. Wendt; Frank J. Kaiser
err分享
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Hierarchical mechanisms control the clearance of DNA lesion–stalled RNA polymerase II分级机制控制DNA损伤停滞的RNA聚合酶II的清除
errNature Communications
IF15.7
err2026-01-19
err0
errOAAI
errPaula J. van der Meer; George Yakoub; Kotaro Tsukada; Yuka Nakazawa; Tomoo Ogi; Martijn S. Luijsterburg
err分享
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Gerstmann–Sträussler–Scheinker disease mimicking primary progressive multiple sclerosis: A case with positive oligoclonal bandsGerstmann–Sträussler–Scheinker疾病模拟原发性进行性多发性硬化：一例寡克隆带阳性的病例
errMultiple Sclerosis Journal
IF5
err2025-12-29
err0
PREAI
errMiwa Ito; Hiroki Masuda; Marie Morooka; Atsuhiko Sugiyama; Hajime Yokota; Tomoo Ogi; Yosuke Nishio; Satoshi Kuwabara
err分享
err收藏
XP-J, a ninth xeroderma pigmentosum complementation group, results from mutations in GTF2H4, encoding TFIIH-p52 subunitFassihi, H.; Mohammed, S.; Nakazawa, Y.; Fawcett, H.; Turner, S.; Palfrey, J.; Garrood, I.; Abiona, A.; Morley, A.M.S.; Shimada, M.; et al. XP-J，一种第九型着色性干皮病互补组，由GTF2H4基因突变引起，该基因编码TFIIH-p52亚基。J. Clin. Investig. 2025, 135, e195731. [Google Scholar] [CrossRef]
errJOURNAL OF CLINICAL INVESTIGATION
IF13.6
err2025-11-17
err3
errOAAI
errFassihi, Hiva; Mohammed, Shehla; Nakazawa, Yuka; Fawcett, Heather; Turner, Sally; Palfrey, Joanne; Garrood, Isabel; Abiona, Adesoji; Morley, Ana M. S.; Shimada, Mayuko; Kato, Kana; Lehmann, Alan R.; Ogi, Tomoo
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err收藏
TFIIH-p52ΔC defines a ninth xeroderma pigmentosum complementation-group XP-J and restores TFIIH stability to p8-defective trichothiodystrophyNakazawa, Y.; Ye, L.; Oka, Y.; Morinaga, H.; Kato, K.; Shimada, M.; Tsukada, K.; Tsujikawa, K.; Nishio, Y.; Fassihi, H.; et al. TFIIH-p52ΔC定义了第九种着色性干皮症互补组XP-J，并恢复了p8缺陷性毛硫蛋白营养不良症的TFIIH稳定性。J. Clin. Investig. 2025, 135, e195732. [Google Scholar] [CrossRef] [PubMed]
errJOURNAL OF CLINICAL INVESTIGATION
IF13.6
err2025-11-17
err3
errOAAI
errNakazawa, Yuka; Ye, Lin; Oka, Yasuyoshi; Morinaga, Hironobu; Kato, Kana; Shimada, Mayuko; Tsukada, Kotaro; Tsujikawa, Koyo; Nishio, Yosuke; Fassihi, Hiva; Mohammed, Shehla; Lehmann, Alan R.; Ogi, Tomoo
err分享
err收藏
MVD-Nonsyndromic Epidermal Differentiation Disorder With a Previously Unreported Splice Variant in MVD Followed by Bullous PemphigoidMVD-非综合征性表皮分化障碍，伴有此前未报道的MVD基因剪接变异，随后发展为天疱疮。
errThe Journal of Dermatology
IF0
err2025-10-14
err0
PREAI
errAkira Miyazaki; Takuya Takeichi; Norito Ishii; Tomoo Ogi; Yoshinao Muro; Masashi Akiyama
err分享
err收藏
A Family with Patients Manifesting Different Phenotypes of Neuromuscular Disease Depending on the CGG Repeat Number in LRP12根据LRP12中的CGG重复数，一个具有表现出不同神经肌肉疾病表型的患者的家庭
errINTERNAL MEDICINE
IF1.1
err2025-10-01
err0
PREAI
errIguchi, Yohei; Tsujikawa, Koyo; Murakami, Ayuka; Kume, Kodai; Nakazawa, Yuka; Oso, Taichi; Nishio, Yosuke; Matsuo, Koji; Fukami, Yuki; Araki, Kunihiko; Ogi, Tomoo; Kawakami, Hideshi; Katsuno, Masahisa
err分享
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Transient Dietary Intervention Induces Healthy Adipose Tissue Expansion and Metabolically Healthy Obesity in Mice短暂饮食干预诱导小鼠健康脂肪组织扩张和代谢健康肥胖
errfaseb journal
IF0
err2025-07-16
err0
errOAAI
errEri Wada; Hirotaka Hosono; Miyako Tanaka; Fumi Miyakawa; Kozue Ochi; Hiro Kohda; Shogo Tanno; Reon Shimano; Ayaka Ito; Yasuyuki Kitaura; Kazuya Ichihara; Akinobu Matsumoto; Tomoo Ogi; Noriko Satoh-Asahara; Toyoaki Murohara; Takayoshi Suganami
err分享
err收藏
Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathyRitscher-Schinzel综合征可被表征为一种内体再循环障碍症。
errScience Translational Medicine
IF14.6
err2025-07-02
err0
PREAI
errKohji Kato; Yosuke Nishio; Kirsty J. McMillan; Aljazi Al-Maraghi; Hester Y. Kroes; Mohamed S. Abdel-Hamid; Emma Jones; Shrestha Shaw; Aya Yoshida; Shiomi Otsuji; Yuka Murofushi; Waleed Aamer; Ajaz A. Bhat; Jehan AlRayahi; Ammira S. Al-Shabeeb Akil; Elbay Aliyev; Ellen van Binsbergen; Etienne J. Janssen; Kazi Mahnaz Mehrin; Hisashi Oishi; Ryosuke Kobayashi; Takuro Horii; Izuho Hatada; Akihiko Saito; Mitsuharu Hattori; Yoshihiko Kawano; Philip A. Lewis; Kate J. Heesom; Takeshi Takarada; Kazunobu Sawamoto; Masaki Matsushita; Tomoo Ogi; Rebeka Butkovic; Chris Danson; Kevin A. Wilkinson; Khalid A. Fakhro; Maha S. Zaki; Shinji Saitoh; Peter J. Cullen
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Clinical and molecular overlap between nucleotide excision repair (NER) disorders and DYRK1A haploinsufficiency syndrome核苷酸切除修复（NER）障碍与DYRK1A单倍剂量不足综合征之间的临床和分子重叠
errFRONTIERS IN NEUROSCIENCE
IF3.2
err2025-03-26
err0
errOAAI
errLe May, Nicolas; Courraud, Jeremie; Boujelbene, Imene; Obringer, Cathy; Ogi, Tomoo; Lehmann, Alan R.; Laffargue, Fanny; Lehalle, Daphne; Mizuno, Seiji; Mohammed, Shehla; Ormieres, Clothilde; Willems, Marjolaine; Laugel, Vincent; Calmels, Nadege
err分享
err收藏
Estimating the proportions of allele frequencies for SERPINA12 pathogenic variants in Japanese patients with Nagashima-type palmoplantar keratosis/keratoderma估算日本Nagashima型掌跖角化症/掌跖角皮症的SERPINA12致病性变异等位基因频率的比例
errBRITISH JOURNAL OF DERMATOLOGY
IF9.6
err2025-03-26
err0
PREAI
errEbata, Aoi; Takeichi, Takuya; Nishida, Kazuki; Chretien, Basile; Miyazaki, Akira; Yoshikawa, Takenori; Suzuki, Yuika; Tanahashi, Kana; Fukaura, Ryo; Seishima, Mariko; Suga, Yasushi; Muro, Yoshinao; Nakazawa, Yuka; Ogi, Tomoo; Akiyama, Masashi
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err收藏
WHOLE GENOME SEQUENCING ANALYSIS OF JAPANESE ASD TRIOS: UNRAVELING PATHOGENIC VARIANTS日本ASD三联家系的基因组测序分析：揭示致病变异
errINTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY
IF3.7
err2025-02-12
err0
errOAAI
errFurukawa, Sawako; Kushima, Itaru; Kimura, Hiroki; Kato, Hidekazu; Nawa, Yoshihiro; Aleksic, Branko; Ogi, Tomoo; Ozaki, Norio; Ikeda, Masashi
err分享
err收藏
Prenatal inflammation impairs early CD11c-positive microglia induction and delays myelination in neurodevelopmental disorders
errCOMMUNICATIONS BIOLOGY
IF5.1
err2025-01-17
err1
errOAAI
errFuma, Kazuya; Iitani, Yukako; Imai, Kenji; Ushida, Takafumi; Tano, Sho; Yoshida, Kosuke; Yokoi, Akira; Miki, Rika; Kidokoro, Hiroyuki; Sato, Yoshiaki; Hara, Yuichiro; Ogi, Tomoo; Nomaki, Kohei; Tsuda, Makoto; Komine, Okiru; Yamanaka, Koji; Kajiyama, Hiroaki; Kotani, Tomomi
err分享
err收藏
Transcription-coupled repair - mechanisms of action, regulation, and associated human disorders
errFEBS LETTERS
IF3
err2024-12-20
err1
errOAAI
errNakazawa, Yuka; Oka, Yasuyoshi; Matsunaga, Tomoko; Ogi, Tomoo
err分享
err收藏
Whole-genome sequencing analysis of Japanese autism spectrum disorder trios
errPSYCHIATRY AND CLINICAL NEUROSCIENCES
IF6.2
err2024-11-28
err0
PREAI
errFurukawa, Sawako; Kushima, Itaru; Kato, Hidekazu; Kimura, Hiroki; Nawa, Yoshihiro; Aleksic, Branko; Banno, Masahiro; Yamamoto, Maeri; Uematsu, Mariko; Nagasaki, Yukako; Ogi, Tomoo; Ozaki, Norio; Ikeda, Masashi
err分享
err收藏
ALS-linked mutant TDP-43 in oligodendrocytes induces oligodendrocyte damage and exacerbates motor dysfunction in mice
errACTA NEUROPATHOLOGICA COMMUNICATIONS
IF5.7
err2024-11-27
err0
errOAAI
errHoriuchi, Mai; Watanabe, Seiji; Komine, Okiru; Takahashi, Eiki; Kaneko, Kumi; Itohara, Shigeyoshi; Shimada, Mayuko; Ogi, Tomoo; Yamanaka, Koji
err分享
err收藏
The small CRL4CSA ubiquitin ligase component DDA1 regulates transcription-coupled repair dynamics
errNATURE COMMUNICATIONS
IF15.7
err2024-07-29
err0
errOAAI
errSchiffmacher, Diana A. Llerena; Lee, Shun-Hsiao; Kliza, Katarzyna W.; Theil, Arjan F.; Akita, Masaki; Helfricht, Angela; Bezstarosti, Karel; Gonzalo-Hansen, Camila; van Attikum, Haico; Verlaan-de Vries, Matty; Vertegaal, Alfred C. O.; Hoeijmakers, Jan H. J.; Marteijn, Jurgen A.; Lans, Hannes; Demmers, Jeroen A. A.; Vermeulen, Michiel; Sixma, Titia K.; Ogi, Tomoo; Vermeulen, Wim; Pines, Alex
err分享
err收藏
Endogenous aldehyde-induced DNA-protein crosslinks are resolved by transcription-coupled repair
errNATURE CELL BIOLOGY
IF19.1
err2024-04-10
err12
errOAAI
errOka, Yasuyoshi; Nakazawa, Yuka; Shimada, Mayuko; Ogi, Tomoo
err分享
err收藏

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Håkon Håkonarson
H 指数: 177 · 论文数: 1.5K
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Stylianos E. Antonarakis
H 指数: 146 · 论文数: 920
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Ingrid E. Scheffer
H 指数: 141 · 论文数: 1.0K
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Joseph D. Buxbaum
H 指数: 140 · 论文数: 792

Yves Pommier
H 指数: 138 · 论文数: 2.0K
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