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)	2025: 金沢医科大学, 総合医学研究所, 講師
Affiliation (based on the past Project Information) *help	2022 – 2023: 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 バイオマーカー / ハプロ不全 / ヒト末梢血由来iPS細胞 / モザイク変異 / 遺伝子型・表現型相関 / 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
結節性硬化症の超早期治療介入のための神経・精神症状重症度予測バイオマーカーの同定
- Principal Investigator
  
  新井田要
- 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 2024 2023 2022 2021 2020 2019

All Journal Article Presentation

[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-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] 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: 8 results
2. 新井田要 (40293344)

# of Collaborated Projects: 1 results

# of Collaborated Products: 4 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

結節性硬化症の超早期治療介入のための神経・精神症状重症度予測バイオマーカーの同定

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] 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] 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

Author(s)

Journal Title

DOI

Data Source

[Presentation] Evaluation of a novel on demand genetic testing method, targeted RNA long amplicon sequencing ( rLAS2023

Author(s)

Organizer

Data Source

[Presentation] Genotype and phenotype landscape of 283 Japanese patients with tuberous sclerosis complex2023

Author(s)

Organizer

Data Source

[Presentation] Functional analysis of ACVRL1 splicing mutation in blood and iPS cells from patients with hereditary hemorrhagic telangiectasia type 2 (HHT2)2020

Author(s)

Organizer

Togi Sumihito 研澄仁

研澄仁トギスミヒト

TOGI Sumihito 研澄仁