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硎 澄仁 トギ スミヒト

■所属部署名先端医療研究領域
■職名講師
 
 

研究活動情報

論文

  • The Detection of Immunity against WT1 and SMAD4P130L of EpCAM+ Cancer Cells in Malignant Pleural Effusion, Terutsugu Koya, Yo Niida, Misa Togi, Kenichi Yoshida, Takuya Sakamoto, Hiroki Ura, Sumihito Togi, Tomohisa Kato Jr, Sohsuke Yamada, Haruo Sugiyama, Shigeo Koido, Shigetaka Shimodaira, International Journal of Molecular Sciences, 23:12177, 2022年10月
  • Molecular Bases of Human Malformation Syndromes Involving the SHH Pathway: GLIA/R Balance and Cardinal Phenotypes, Niida Y, Togi S, Ura H, International Journal of Molecular Sciences, 22:13060, 2021年12月
  • Application of Combined Long Amplicon Sequencing (CoLAS) for Genetic Analysis of Neurofibromatosis Type 1: A Pilot Study, Togi S, Ura H, Niida Y, Current Issues in Molecular Biology, 43:782-801, 2021年07月
  • Optimization and Validation of Multimodular, Long-Range PCR-Based Next-Generation Sequencing Assays for Comprehensive Detection of Mutation in Tuberous Sclerosis Complex, Togi S, Ura H, Niida Y, The Journal of Molecular Diagnostics, 23:424-446, 2021年04月
  • Implication of NF-κB Activation on Ozone-Induced HO-1 Activation, Sumihito Togi, Misa Togi, Satoshi Nagashima, Yuichi Kitai, Ryuta Muromoto, Jun-ichi Kashiwakura, Toshiaki Miura, Tadashi Matsuda, BPB Reports, 4:59-63, 2021年03月
  • Targeted Double-Stranded cDNA Sequencing-Based Phase Analysis to Identify Compound Heterozygous Mutations and Differential Allelic Expression, Ura H, Togi S, Niida Y, Biology, 10:256, 2021年02月
  • Target-capture full-length double-strand cDNA sequencing for alternative splicing analysis, Ura H, Togi S, Niida Y, RNA Biology, 18:1600-1607, 2021年01月
  • Dual Deep Sequencing Improves the Accuracy of Low-Frequency Somatic Mutation Detection in Cancer Gene Panel Testing, Hiroki Ura, Sumihito Togi, Yo Niida, International Journal of Molecular Sciences, 21:3530, 2020年05月
  • Inactivating Mutation in IRF8 Promotes Osteoclast Transcriptional Prigrams and Increases Susceptibility to Tooth Root Resorption, (Vivek Thumbigere-Math), Brian L.Foster, Mahesh Bachu, Hiroaki Yoshii, Stephen Brooks, Alyssa Coulter, Michael B. Chavez, Sumihito Togi, Anthony L. Neely, Zuoming Deng, Kim C. Mansky, Keiko Ozato, Martha J. Somerman, Journal of bone and mineral research, 34:1155-1168, 2019年06月
  • A comparison of mRNA sequencing (RNA-Seq) library preparation methods for transcriptome analysis., Ura H, Togi S, Niida Y., BMC Genomics, 23:303, 2022年04月
  • Poly(A) capture full length cDNA sequencing improves the accuracy and detection ability of transcript quantification and alternative splicing events., Ura H, Togi S, Niida Y., Sci Rep., 12:10599, 2022年06月
  • Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex., Togi S, Ura H, Hatanaka H, Niida Y, Int J Mol Sci., 23:11175, 2022年09月
  • Establishment of a human induced pluripotent stem cell line, KMUGMCi001-A, from a patient bearing a heterozygous c.772 + 3_772 + 4dup mutation in the ACVRL1 gene leading Telangiectasia, hereditary hemorrhagic, type 2 (HHT2)., Ura H, Togi S, Iwata Y, Ozaki M, Niida Y., Stem Cell Res., 61: , 2022年03月
  • Establishment of a human induced pluripotent stem cell line, KMUGMCi002-A, from a patient bearing a heterozygous c.6362_6364del mutation in the NIPBL gene leading Cornelia de Lange syndrome (CdLS)., Ura H, Togi S, Iwata Y, Ozaki M, Niida Y., Stem Cell Res., 63: , 2022年07月
  • Establishment of a human induced pluripotent stem cell line, KMUGMCi003-A, from a patient with trichothiodystrophy 1 (TTD1) bearing compound heterozygous missense mutations in the ERCC2 gene., Ura H, Togi S, Hatanaka H, Niida Y., Stem Cell Res., 64: , 2022年08月
  • Establishment of a human induced pluripotent stem cell line, KMUGMCi004-A, from a patient bearing a heterozygous c.1832delG mutation in the APC gene leading familial adenomatous polyposis (FAP)., Ura H, Togi S, Hatanaka H, Niida Y., Stem Cell Res., 63: , 2022年07月
  • Establishment of a human induced pluripotent stem cell line, KMUGMCi005-A, from a patient with Epidermodysplasia verruciformis (EV) bearing homozygous splicing donor site mutation in the TMC8 gene., Ura H, Togi S, Hatanaka H, Niida Y., Stem Cell Res., 64: , 2022年09月
  • Certificate of acceptance for the manuscript (ijms-1913863) titled: Adaptive immunity against WT1 and SMAD4P130L of EpCAM+ cancer cells in malignant pleural effusion, Koya T, Niida Y, Togi M, Yoshida K, Sakamoto T, Ura H, Togi S, Kato T Jr, Yamada S, Sugiyama H, Koido S, Shimodaira S., Int J Mol Sci., 23:12177, 2022年10月
  • Herbal extracts that induce type I interferons through Toll-like receptor 4 signaling, Nakasuji-Togi M, Togi S, Saeki K, Kojima Y, Ozato K, Food & Nutrition Research, 28:5524, 2022年01月
  • Herbal extracts that induce type I interferons through Toll-like receptor 4 signaling, Togi M, Togi S, Saeki K, Kojima Y, Ozato K, Food & nutrition research, 66:5524, 2022年01月
  • A Case of Von Hippel-Lindau Disease With Recurrence of Paraganglioma and No Other Associated Symptoms: The Importance of Genetic Testing and Establishing Follow-Up Policies, Naoki Okada, Akihiro Shioya, Sumihito Togi, Hiroki Ura, Yo Niida, Cureus, 15:e50484, 2023年12月
  • Schimmelpenning-Feuerstein-Mims syndrome induced by HRAS Gly12Ser somatic mosaic mutation: Case report and literature review, Hiroto Ono, Reimon Yamaguchi, Minako Arai, Sumihito Togi, Hiroki Ura, Yo Niida, Akira Shimizu, The Journal of Dermatology, 50:1213-1215, 2023年
  • Clinical Trial on the Safety and Tolerability of Personalized Cancer Vaccines Using Human Platelet Lysate-Induced Antigen-Presenting Cells, Terutsugu Koya, Kenichi Yoshida, Misa Togi, Yo Niida, Sumihito Togi, Hiroki Ura, Shuichi Mizuta, Tomohisa Kato Jr, Sohsuke Yamada, Takeo Shibata, Yi-Chang Liu, Shyng-Shiou Yuan, Deng-Chyang Wu, Hirohito Kobayashi, Taiju Utsugisawa, Hitoshi Kanno, Shigetaka Shimodaira, Cancers, 15:3627, 2023年07月
  • Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy., Niida Y, Kobayashi A, Togi S, Ura H., Hum Genome Var., 10:29, 2023年10月
  • Target-capture full-length double-stranded cDNA long-read sequencing through Nanopore revealed novel intron retention in patient with tuberous sclerosis complex., Ura H, Togi S, Niida Y., Front Genet., 14:1256064, 2023年09月
  • Establishment of human induced pluripotent stem cell lines, KMUGMCi006, from a patient with Tuberous sclerosis complex (TSC) bearing mosaic nonsense mutations in the Tuberous sclerosis complex 2 (TSC2) gene., Ura H, Togi S, Ozaki M, Hatanaka H, Niida Y., Stem Cell Res., 70:103129, 2023年08月
  • Streamlining Genetic Diagnosis With Long-Range Polymerase Chain Reaction (PCR)-Based Next-Generation Sequencing for Type I and Type II Collagenopathies., Niida Y, Togi S, Ura H., Cureus, 15:e50482, 2023年12月
  • Establishment of a human induced pluripotent stem cell line, KMUGMCi007-A, from a patient with prolidase deficiency (PD) bearing homozygous in-frame mutation in the PEPD gene., Ura H, Togi S, Ozaki M, Hatanaka H, Niida Y., Stem Cell Res., 69:103075, 2023年06月
  • Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency, Niida Y, Fujita W, Togi S, Ura H., Human Genome Variation, 11:28, 2024年07月
  • A case of SCN8A-related developmental epileptic encephalopathy diagnosed by clinical speculation driven targeted DNA sequencing and remission of epilepsy by sodium channel blockers combination therapy, Yoshitaka Mitsui, Hitoshi Sato, Sumihito Togi, Hiroki Ura, Yo Niida, Brain and Development Case Reports, 2:100015, 2024年06月
  • Integrated Analysis of Somatic DNA Variants and DNA Methylation of Tumor Suppressor Genes in Colorectal Cancer, Hisashi Nishiki, Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Hideto Fujita, Hiroyuki Takamura, Yo Niida, International Journal of Molecular Sciences, 26:1642, 2025年02月
  • Computational Comparison of Differential Splicing Tools for Targeted RNA Long-Amplicon Sequencing (rLAS)., Ura H, Hatanaka H, Togi S, Niida Y., Int J Mol Sci, 26:3220-3220, 2025年03月

書籍等出版物

  • 次世代シーケンス解析技術を用いた遺伝性疾患の疾患原因遺伝子変異の同定
    患原因遺伝子・タンパク質の解析技術と創薬/診断技術への応用
    新井田要, 硎 澄仁,浦 大樹
    技術情報協会 2022年03月

競争的資金

  • 患者血液由来全長cDNAを用いた新規オンデマンド遺伝子検査法の確立とその評価
    文部科学省:科学研究費 基盤研究(C)
    研究期間:2023年04月 - 2026年03月  
  • 結節性硬化症におけるTSC1/2の新規変異同定とその機能解析
    文部科学省:科学研究費 若手研究
    研究期間:2019年 - 2020年  
    代表者:硎 澄仁