Togi Sumihito 研澄仁

… Alternative Names

研澄仁トギスミヒト

TOGI Sumihito 研澄仁

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Researcher Number	40709391
Other IDs
Affiliation (Current)	2026: 金沢医科大学, 総合医学研究所, 講師
Affiliation (based on the past Project Information) *help	2022 – 2024: 金沢医科大学, 総合医学研究所, 講師 2019 – 2020: 金沢医科大学, 総合医学研究所, 助教
Review Section/Research Field	Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related / Basic Section 48040:Medical biochemistry-related Except Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related
Keywords	Principal Investigator 遺伝子検査 / スプライシング / 患者由来iPS細胞 / CoLAS / mTOR / NGS / 変異解析 / 遺伝子診断 / スプライシング異常 / mTORシグナル / 結節性硬化症 / iPS / TSC … More Except Principal Investigator … More ハプロ不全 / モザイク変異 / バイオマーカー / 重症予測因子 / 遺伝子型・表現型相関 / モザイクバリアント / ヒト末梢血由来iPS細胞 / 症状修飾遺伝子 / 表現型の差異 / 結節性硬化症 Less

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Principal Investigator
- Principal Investigator
  
  研澄仁
- Project Period (FY)
  2023 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Kanazawa Medical University
Identification of biomarkers predicting the severity of neuro-psychiatric symptoms for early therapeutic intervention in tuberous sclerosis complex
- Principal Investigator
  
  NIIDA Yo
- Project Period (FY)
  2022 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Kanazawa Medical University
The functional analysis of novel TSC1/2 mutations found in TSC patientsPrincipal Investigator
- Principal Investigator
  
  TOGI Sumihito
- Project Period (FY)
  2019 – 2020
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 48040:Medical biochemistry-related
- Research Institution
  Kanazawa Medical University

All 2025 2024 2023 2022 2021 2020 2019

All Journal Article Presentation

[Journal Article] Computational Comparison of Differential Splicing Tools for Targeted RNA Long-Amplicon Sequencing (rLAS)2025
- Author(s)
  Ura Hiroki、Hatanaka Hisayo、Togi Sumihito、Niida Yo
- Journal Title
  
  International Journal of Molecular Sciences
  
  Volume: 26 Issue: 7 Pages: 3220-3220
- DOI
  10.3390/ijms26073220
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K07854, KAKENHI-PROJECT-23K07277
[Journal Article] Establishment of a human induced pluripotent stem cell line, KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing missense mutation in the MED12 gene2024
- Author(s)
  Ura Hiroki、Togi Sumihito、Hatanaka Hisayo、Niida Yo
- Journal Title
  
  Stem Cell Research
  
  Volume: 77 Pages: 103388-103388
- DOI
  10.1016/j.scr.2024.103388
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-23K05607, KAKENHI-PROJECT-23K07277
[Journal Article] Qualitative and quantitative analysis of <i>MED12</i> c.887G>A causing both missense and splicing variants in X‐linked Ohdo syndrome2024
- Author(s)
  Togi Sumihito、Ura Hiroki、Niida Yo
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 194 Issue: 9 Pages: 63628-63628
- DOI
  10.1002/ajmg.a.63628
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K07277
[Journal Article] Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency2024
- Author(s)
  Niida Yo、Fujita Wataru、Togi Sumihito、Ura Hiroki
- Journal Title
  
  Human Genome Variation
  
  Volume: 11 Issue: 1 Pages: 28-28
- DOI
  10.1038/s41439-024-00286-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-23K07277
[Journal Article] SNP Array Screening and Long Range PCR-Based Targeted Next Generation Sequencing for Autosomal Recessive Disease with Consanguinity: Insight from a Case of Xeroderma Pigmentosum Group C2023
- Author(s)
  Nomura Fumie、Shimizu Akira、Togi Sumihito、Ura Hiroki、Niida Yo
- Journal Title
  
  Genes
  
  Volume: 14 Issue: 11 Pages: 2079-2079
- DOI
  10.3390/genes14112079
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-23K05607, KAKENHI-PROJECT-23K07277
[Journal Article] 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 Policies2023
- Author(s)
  Okada Naoki、Shioya Akihiro、Togi Sumihito、Ura Hiroki、Niida Yo
- Journal Title
  
  Cureus
  
  Volume: － Pages: 50484-50484
- DOI
  10.7759/cureus.50484
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-23K05607, KAKENHI-PROJECT-23K07277
[Journal Article] 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) gene2023
- Author(s)
  Ura Hiroki、Togi Sumihito、Ozaki Mamoru、Hatanaka Hisayo、Niida Yo
- Journal Title
  
  Stem Cell Research
  
  Volume: 70 Pages: 103129-103129
- DOI
  10.1016/j.scr.2023.103129
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K07854, KAKENHI-PROJECT-23K05607, KAKENHI-PROJECT-23K07277
[Journal Article] Target-capture full-length double-stranded cDNA long-read sequencing through Nanopore revealed novel intron retention in patient with tuberous sclerosis complex2023
- Author(s)
  Ura Hiroki、Togi Sumihito、Niida Yo
- Journal Title
  
  Frontiers in Genetics
  
  Volume: 14 Pages: 1256064-1256064
- DOI
  10.3389/fgene.2023.1256064
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K07854, KAKENHI-PROJECT-23K05607, KAKENHI-PROJECT-23K07277
[Journal Article] Streamlining Genetic Diagnosis With Long-Range Polymerase Chain Reaction (PCR)-Based Next-Generation Sequencing for Type I and Type II Collagenopathies2023
- Author(s)
  Niida Yo、Togi Sumihito、Ura Hiroki
- Journal Title
  
  Cureus
  
  Volume: 15 Pages: 50482-50482
- DOI
  10.7759/cureus.50482
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-23K07277
[Journal Article] Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex2022
- Author(s)
  Togi Sumihito、Ura Hiroki、Hatanaka Hisayo、Niida Yo
- Journal Title
  
  International Journal of Molecular Sciences
  
  Volume: 23 Issue: 19 Pages: 11175-11175
- DOI
  10.3390/ijms231911175
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K07854
[Journal Article] Optimization and Validation of Multimodular, Long-Range PCR?Based Next-Generation Sequencing Assays for Comprehensive Detection of Mutation in Tuberous Sclerosis Complex2021
- Author(s)
  Togi Sumihito、Ura Hiroki、Niida Yo
- Journal Title
  
  The Journal of Molecular Diagnostics
  
  Volume: 23 Issue: 4 Pages: 424-446
- DOI
  10.1016/j.jmoldx.2020.12.009
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K16528
[Journal Article] Target-capture full-length double-strand cDNA sequencing for alternative splicing analysis2021
- Author(s)
  Ura Hiroki、Togi Sumihito、Niida Yo
- Journal Title
  
  RNA Biology
  
  Volume: 20 Issue: 11 Pages: 1-8
- DOI
  10.1080/15476286.2021.1872961
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K16528
[Presentation] Analysis of abnormal splicing variants of collagen family genes, in patient-derived iPS cells withcollagenopathies2024
- Author(s)
  Sumihito Togi
- Organizer
  日本人類遺伝学会第69回大会
- Data Source
  KAKENHI-PROJECT-23K07277
[Presentation] Evaluation of a novel on demand genetic testing method, targeted RNA long amplicon sequencing ( rLAS2023
- Author(s)
  Sumihito Togi
- Organizer
  Human Genetics Asia 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K07277
[Presentation] Genotype and phenotype landscape of 283 Japanese patients with tuberous sclerosis complex2023
- Author(s)
  Niida Y, Togi S, Ura H.
- Organizer
  Human Genetics Asia 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K07854
[Presentation] Functional analysis of ACVRL1 splicing mutation in blood and iPS cells from patients with hereditary hemorrhagic telangiectasia type 2 (HHT2)2020
- Author(s)
  Togi Sumihito、Ura Hiroki、Ozaki Mamoru、Niida Yo
- Organizer
  日本人類遺伝学会第65回大会
- Data Source
  KAKENHI-PROJECT-19K16528
[Presentation] Identification of a novel splicing mutation in ACVRL1 gene in a family with several members affected by HHT2019
- Author(s)
  Sumihito Togi
- Organizer
  日本人類遺伝学会第64回大会
- Data Source
  KAKENHI-PROJECT-19K16528

1. 浦大樹 (90624958)

# of Collaborated Projects: 2 results

# of Collaborated Products: 11 results
2. NIIDA Yo (40293344)

# of Collaborated Projects: 1 results

# of Collaborated Products: 5 results

Togi Sumihito 研 澄仁

研 澄仁 トギ スミヒト

TOGI Sumihito 研 澄仁

Research Projects

Research Products

Co-Researchers

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Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Identification of biomarkers predicting the severity of neuro-psychiatric symptoms for early therapeutic intervention in tuberous sclerosis complex

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

The functional analysis of novel TSC1/2 mutations found in TSC patientsPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

[Journal Article] Computational Comparison of Differential Splicing Tools for Targeted RNA Long-Amplicon Sequencing (rLAS)2025

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Establishment of a human induced pluripotent stem cell line, KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing missense mutation in the MED12 gene2024

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Qualitative and quantitative analysis of <i>MED12</i> c.887G&gt;A causing both missense and splicing variants in X‐linked Ohdo syndrome2024

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency2024

Author(s)

Journal Title

DOI

Data Source

[Journal Article] SNP Array Screening and Long Range PCR-Based Targeted Next Generation Sequencing for Autosomal Recessive Disease with Consanguinity: Insight from a Case of Xeroderma Pigmentosum Group C2023

Author(s)

Journal Title

DOI

Data Source

[Journal Article] 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 Policies2023

Author(s)

Journal Title

DOI

Data Source

[Journal Article] 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) gene2023

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Target-capture full-length double-stranded cDNA long-read sequencing through Nanopore revealed novel intron retention in patient with tuberous sclerosis complex2023

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Streamlining Genetic Diagnosis With Long-Range Polymerase Chain Reaction (PCR)-Based Next-Generation Sequencing for Type I and Type II Collagenopathies2023

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex2022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Optimization and Validation of Multimodular, Long-Range PCR?Based Next-Generation Sequencing Assays for Comprehensive Detection of Mutation in Tuberous Sclerosis Complex2021

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Target-capture full-length double-strand cDNA sequencing for alternative splicing analysis2021

Togi Sumihito 研澄仁

研澄仁トギスミヒト

TOGI Sumihito 研澄仁

[Journal Article] Qualitative and quantitative analysis of <i>MED12</i> c.887G>A causing both missense and splicing variants in X‐linked Ohdo syndrome2024