IZUMI kosuke 泉幸佑

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Izumi Kosuke 泉幸佑

Kosuke Izumi 泉幸佑

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Researcher Number	40383707
Affiliation (Current)	2025: 東京大学, 定量生命科学研究所, 客員准教授
Affiliation (based on the past Project Information) *help	2020 – 2024: 東京大学, 定量生命科学研究所, 客員准教授 2014 – 2015: 東京大学, 分子細胞生物学研究所, 助教
Review Section/Research Field	Principal Investigator Basic Section 48040:Medical biochemistry-related / Human genetics Except Principal Investigator Transformative Research Areas, Section (III)
Keywords	Principal Investigator 精神運動発達遅滞 / 転写制御 / RNA結合タンパク / 精神運動発達異常 / RNA / RNA代謝 / ゲノム / 核スペックル / エピゲノム解析 / ゲノムワイド解析 … More / 遺伝子発現解析 / モザイク染色体異常 / エピゲノム / デジタルPCR / モザイク / 染色体異常 … More Except Principal Investigator Brd / Hexim / Aff4 / Brd4 / NKAP / Cbx1 / 転写制御ネットワーク / 転写伸長 / Hi-C / コヒーシンローダー / コヒーシン / 希少疾患 Less

Molecular mechanism of nuclear speckle disorders: NKAP-related syndrome as a modelPrincipal Investigator
- Principal Investigator
  
  Izumi Kosuke
- Project Period (FY)
  2021 – 2023
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 48040:Medical biochemistry-related
- Research Institution
  The University of Tokyo
Genomic modalities of development and differentiation and elucidation of disease mechanisms by their malfunction
- Principal Investigator
  
  白髭克彦
- Project Period (FY)
  2020 – 2024
- Research Category
  
  Grant-in-Aid for Transformative Research Areas (A)
- Review Section
  
  Transformative Research Areas, Section (III)
- Research Institution
  The University of Tokyo
Molecular mechanism of aneuploidy syndrome: Pallsiter-Killian syndrome as a modelPrincipal Investigator
- Principal Investigator
  
  Kosuke Izumi
- Project Period (FY)
  2014 – 2015
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Human genetics
- Research Institution
  The University of Tokyo

All 2023 2022 2021 2016 2015 2014

All Journal Article Presentation

[Journal Article] Nuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteins2023
- Author(s)
  Kelly E Regan-Fendt , Kosuke Izumi
- Journal Title
  
  Human Genetics
  
  Volume: - Issue: 4 Pages: 529-544
- DOI
  10.1007/s00439-023-02540-6
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K06833
[Journal Article] Inborn error of metabolism patients after liver transplantation: Outcomes of 35 patients over 27 years in one pediatric quaternary hospital.2022
- Author(s)
  Pritchard AB, Izumi K, Payan-Walters I, Yudkoff M, Rand EB, Bhoj E.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 188(5) Issue: 5 Pages: 1443-1447
- DOI
  10.1002/ajmg.a.62659
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PLANNED-20H05940
[Journal Article] Variants in NAA15 cause pediatric hypertrophic cardiomyopathy.2021
- Author(s)
  Ritter A, Berger JH, Deardorff M, Izumi K, Lin KY, Medne L, Ahrens-Nicklas RC.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 185(1) Pages: 228-233
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PLANNED-20H05940
[Journal Article] Mosaic Ratio Quantification of Isochromosome 12p in Pallister-Killian syndrome using Droplet Digital PCR2016
- Author(s)
  •Fujiki K., Shirahige K., Kaur M., Deardorff MA., Conlin LK., Krantz ID., Izumi K
- Journal Title
  
  Mol Genet Genomic Med
  
  Volume: in press Issue: 3 Pages: 257-261
- DOI
  10.1002/mgg3.200
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26870139
[Journal Article] Elevation of Insulin-Like growth Factor Binding Protein-2 Level in Pallister-Killian Syndrome: Implications for the Postnatal Growth Retardation Phenotype2015
- Author(s)
  Izumi K., Kellogg E., Fujiki K., Kaur M., Tilton RK., Noon S, Wilkens A., Shirahige K., Krantz ID
- Journal Title
  
  Am J Med Genet A.
  
  Volume: in press
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-26870139
[Journal Article] Cardiac Manifestations of Pallister-Killian Syndrome2014
- Author(s)
  Tilton R., Wilkens A., Krantz ID., Izumi K
- Journal Title
  
  Am J Med Genet A
  
  Volume: 164A Issue: 5 Pages: 1130-5
- DOI
  10.1002/ajmg.a.36413
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26870139
[Journal Article] Pallister-Killian Syndrome2014
- Author(s)
  Izumi K., Krantz ID
- Journal Title
  
  Am J Med Genet C
  
  Volume: 166C Issue: 4 Pages: 406-413
- DOI
  10.1002/ajmg.c.31423
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26870139
[Journal Article] Genome-Wide Expression Analysis in Fibroblast Cell Lines from Probands with Pallister Killian Syndrome2014
- Author(s)
  Kaur M., Izumi K., Wilkens AB., Chatfield KC., Spinner NB., Conlin LK., Zhang Z., Krantz ID
- Journal Title
  
  PLoS One
  
  Volume: 9 Issue: 10 Pages: e108853-e108853
- DOI
  10.1371/journal.pone.0108853
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26870139
[Journal Article] 12p microRNA expression in Fibroblast Cell Lines from Probands with Pallister-Killian Syndrome2014
- Author(s)
  Izumi K., Kaur M, Zhang Z., Krantz ID
- Journal Title
  
  Chromosome Res
  
  Volume: 22 Issue: 4 Pages: 453-461
- DOI
  10.1007/s10577-014-9431-y
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26870139
[Presentation] Mosaic Ratio Quantification of Isochromosome 12p in Pallister-Killian syndrome using Droplet Digital PCR2016
- Author(s)
  Kosuke Izumi
- Organizer
  International Congress of Human Genetics
- Place of Presentation
  Kyoto International Conference Center (京都府京都市）)
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26870139

1. 白髭克彦 (90273854)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
2. 朴聖俊 (40759411)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results

IZUMI kosuke 泉 幸佑

Izumi Kosuke 泉 幸佑

Kosuke Izumi 泉 幸佑

Research Projects

Research Products

Co-Researchers

Molecular mechanism of nuclear speckle disorders: NKAP-related syndrome as a modelPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Genomic modalities of development and differentiation and elucidation of disease mechanisms by their malfunction

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Molecular mechanism of aneuploidy syndrome: Pallsiter-Killian syndrome as a modelPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Journal Article] Nuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteins2023

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Inborn error of metabolism patients after liver transplantation: Outcomes of 35 patients over 27 years in one pediatric quaternary hospital.2022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Variants in NAA15 cause pediatric hypertrophic cardiomyopathy.2021

Author(s)

Journal Title

Data Source

[Journal Article] Mosaic Ratio Quantification of Isochromosome 12p in Pallister-Killian syndrome using Droplet Digital PCR2016

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Elevation of Insulin-Like growth Factor Binding Protein-2 Level in Pallister-Killian Syndrome: Implications for the Postnatal Growth Retardation Phenotype2015

Author(s)

Journal Title

Data Source

[Journal Article] Cardiac Manifestations of Pallister-Killian Syndrome2014

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Pallister-Killian Syndrome2014

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Genome-Wide Expression Analysis in Fibroblast Cell Lines from Probands with Pallister Killian Syndrome2014

Author(s)

Journal Title

DOI

Data Source

[Journal Article] 12p microRNA expression in Fibroblast Cell Lines from Probands with Pallister-Killian Syndrome2014

Author(s)

Journal Title

DOI

Data Source

[Presentation] Mosaic Ratio Quantification of Isochromosome 12p in Pallister-Killian syndrome using Droplet Digital PCR2016

Author(s)

Organizer

Place of Presentation

Year and Date

Data Source

IZUMI kosuke 泉幸佑

Izumi Kosuke 泉幸佑

Kosuke Izumi 泉幸佑