uematu mitugu 植松貢

… Alternative Names

UEMATSU Mitsugu 植松貢

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Researcher Number	90400316
Other IDs
Affiliation (Current)	2025: 東北大学, 医学系研究科, 准教授
Affiliation (based on the past Project Information) *help	2024: 東北大学, 医学系研究科, 准教授 2019 – 2022: 東北大学, 医学系研究科, 准教授 2012 – 2018: 東北大学, 大学病院, 講師 2015: 東北大学病院, 講師 2012: 東北大学, 病院, 助教 … More 2011 – 2012: 東北大学, 病院, 講師 2010: 東北大学, 病院, 助教 2007 – 2008: Tohoku University, 病院, 助教 Less
Review Section/Research Field	Principal Investigator Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related Except Principal Investigator Pediatrics / Rehabilitation science/Welfare engineering
Keywords	Principal Investigator ミトコンドリア / Direct reprogramming / 遺伝子 / 髄鞘化障害 / 高周波数脳波 / てんかん原性領域 / Direct reprogramiming / 低分子RNA / 先天性大脳白質形成不全症 / マウス … More / アポトーシス / ラット / 線維芽細胞 / 髄鞘化 / エクソームシークエンス / Angelman症候群 / MBP / 白質形成不全 / マイクロアレイ / 遺伝子変異 / ダイレクトシークエンス法 / MLPA法 / HSP60遺伝子 / MBP遺伝子 / GJA12遺伝子 / PLP1遺伝子 / 先天性髄鞘化障害 … More Except Principal Investigator てんかん / アミノ酸代謝異常症 / 分岐鎖アミノ酸 / 新生児マススクリーニング / 自閉症 / 分岐鎖アミノ酸・ / 医療安全 / 近赤外光 / 経管栄養 / 医療事故防止 Less

Epileptogenic networks for each genetic etiological category of epileptic foci.Principal Investigator
- Principal Investigator
  
  植松貢
- Project Period (FY)
  2024 – 2026
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Tohoku University
Analysis using direct reprogramming method for congenital hypomyelinating leukodystrophyPrincipal Investigator
- Principal Investigator
  
  Uematsu Mitsugu
- Project Period (FY)
  2019 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Tohoku University
Functional analysis of mitochondrial related novel myelinating disorder genePrincipal Investigator
- Principal Investigator
  
  Uematsu Mitsugu
- Project Period (FY)
  2016 – 2018
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University
Platform for conformation and screening of BCKDK deficiency; potentially treatable form of autism with epilepsy
- Principal Investigator
  
  Sakamoto Osamu
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University
Whole exome sequencing analysis in infants with a hypomyelinating leukodystrophyPrincipal Investigator
- Principal Investigator
  
  Uematsu Mitsugu
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University
A newly developed optical guide system for safe insertion of nasogastric tube.
- Principal Investigator
  
  MUNAKATA Mitsutoshi
- Project Period (FY)
  2010 – 2012
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Rehabilitation science/Welfare engineering
- Research Institution
  Tohoku University
Exhaustive genetic analysis for congenital hypomyelination disorders using Comparative Genomic Hybridization Array.Principal Investigator
- Principal Investigator
  
  UEMATSU Mitsugu
- Project Period (FY)
  2010 – 2012
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University
Genetic analysis about myelination associated genes using MLPA method and investigation for myelination processPrincipal Investigator
- Principal Investigator
  
  UEMATSU Mitsugu
- Project Period (FY)
  2007 – 2008
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University

All 2019 2018 2017 2016 2015 2014 2011 2008 Other

All Journal Article Presentation

[Journal Article] Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial-RNA-import protein PNPase cause delayed myelination2017
- Author(s)
  Sato R.、Arai-Ichinoi N.、Kikuchi A.、Matsuhashi T.、Numata-Uematsu Y.、Uematsu M.、Fujii Y.、Murayama K.、Ohtake A.、Abe T.、Kure S.
- Journal Title
  
  Clinical Genetics
  
  Volume: 93 Issue: 2 Pages: 242-247
- DOI
  10.1111/cge.13068
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K09982, KAKENHI-PROJECT-16K19625
[Journal Article] Mucolipidosis IV: A milder form with novel mutations and serial MRI findings2016
- Author(s)
  Shiihara T, Watanabe M, Moriyama K, Maruyama Y, Kikuchi A, Arai-Ichinoi N, Uematsu M, Sameshima K
- Journal Title
  
  Brain and Development
  
  Volume: in press Issue: 8 Pages: 763-767
- DOI
  10.1016/j.braindev.2016.02.009
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25461533
[Journal Article] Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy.2015
- Author(s)
  Arai-Ichinoi N, Uematsu M, Sato R, Suzuki T, Kudo H, Kikuchi A, et al.
- Journal Title
  
  Human Genetics
  
  Volume: 1 Issue: 1 Pages: 1-10
- DOI
  10.1007/s00439-015-1617-7
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19597, KAKENHI-PROJECT-25461533
[Journal Article] A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease2015
- Author(s)
  Shiihara T, Watanabe M, Moriyama K, Uematsu M, Sameshima K
- Journal Title
  
  Brain and Development
  
  Volume: 37 Issue: 4 Pages: 455-458
- DOI
  10.1016/j.braindev.2014.06.011
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25461533
[Journal Article] Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase I deficiency with a novel point mutation2014
- Author(s)
  Hiroki Sato, Mitsugu Uematsu, Wakaba Endo, Tojo Nakayam, Tomoko Kobayashi, Naomi Hino-Fukuyo, Osamu Sakamoto, Haruo Shintaku, Shigeo Kure
- Journal Title
  
  Brain Dev.
  
  Volume: 36 Issue: 3 Pages: 268-271
- DOI
  10.1016/j.braindev.2013.04.003
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24591498, KAKENHI-PROJECT-25461532
[Journal Article] Progressive atrophy of the cerebrum in 2 Japanese sisters with microcephaly with simplified gyri and enlarged extraaxial space2011
- Author(s)
  Hirose M, et al.
- Journal Title
  
  Neuropediatrics
  
  Volume: 42 Issue: 04 Pages: 163-166
- DOI
  10.1055/s-0031-1287771
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591312, KAKENHI-PROJECT-21591334, KAKENHI-PROJECT-22500499, KAKENHI-PUBLICLY-23110534
[Presentation] 先天性大脳白質形成不全症における末梢神経障害の病態解析2019
- Author(s)
  植松有里佳、植松貢、井上健、呉繁夫
- Organizer
  第62回日本小児神経学会学術集会（名古屋）
- Data Source
  KAKENHI-PROJECT-19K08270
[Presentation] Impairment of small RNAs into mitochondria can cause abnormal myelination and neuronal cell death2019
- Author(s)
  Mitsugu Uematsu, Yurika Numata-Uematsu
- Organizer
  Neuroscience 2019(Chicago)
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K08270
[Presentation] 線維芽細胞から神経細胞へのdirect conversionによる疾患原因遺伝子変異の機能解析2018
- Author(s)
  植松有里佳, 植松貢, 佐藤亮, 井上健, 呉繁夫
- Organizer
  第60回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-16K09982
[Presentation] Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial-RNA-import protein PNPase cause delayed myelination2017
- Author(s)
  菊池敦生、植松貢他
- Organizer
  ASHG 2017 Annual Meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K09982
[Presentation] ミトコンドリアRNAインポートタンパクPNPaseをコードするPNPT1遺伝子の新規両アレル性変異は髄鞘化遅延を起こす2017
- Author(s)
  菊池敦生、植松貢他
- Organizer
  第62回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-16K09982
[Presentation] Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy2016
- Author(s)
  Mitsugu Uematsu, Natsuko Arai-Ichinoi, Atsuo Kikuchi, Shigeo Kure
- Organizer
  14th International Child Neurology Congress
- Place of Presentation
  アムステルダム、オランダ
- Year and Date
  2016-05-01
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25461533
[Presentation] 先天性大脳白質形成不全症の遺伝子解析2015
- Author(s)
  植松　貢、市野井那津子、佐藤亮、植松有里佳、菊池敦生、福與なおみ、呉繁夫、萩野谷和裕
- Organizer
  第57回日本小児神経学会学術集会
- Place of Presentation
  大阪(帝国ホテル大阪)
- Year and Date
  2015-05-28
- Data Source
  KAKENHI-PROJECT-25461533
[Presentation] 先天性髄鞘化障害の原因遺伝子検索2008
- Author(s)
  植松貢
- Organizer
  第50回日本小児神経学会総会
- Place of Presentation
  東京
- Year and Date
  2008-05-29
- Data Source
  KAKENHI-PROJECT-19790706
[Presentation] 先天性大脳白質形成不全症の遺伝子解析
- Author(s)
  植松　貢
- Organizer
  第57回日本小児神経学会学術集会
- Place of Presentation
  帝国ホテル大阪
- Year and Date
  2015-05-28 – 2015-05-30
- Data Source
  KAKENHI-PROJECT-25461533

1. 植松有里佳 (70735779)

# of Collaborated Projects: 3 results

# of Collaborated Products: 6 results
2. MUNAKATA Mitsutoshi (30312573)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
3. MATSUURA Yuji (10241530)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
4. Sakamoto Osamu (20333809)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
5. OHURA Toshihiro (10176828)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
6. 小林朋子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
7. 呉繁夫

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
8. 菊池敦生

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

uematu mitugu 植松 貢

UEMATSU Mitsugu 植松 貢

Research Projects

Research Products

Co-Researchers

Epileptogenic networks for each genetic etiological category of epileptic foci.Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Analysis using direct reprogramming method for congenital hypomyelinating leukodystrophyPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Functional analysis of mitochondrial related novel myelinating disorder genePrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Platform for conformation and screening of BCKDK deficiency; potentially treatable form of autism with epilepsy

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Whole exome sequencing analysis in infants with a hypomyelinating leukodystrophyPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

A newly developed optical guide system for safe insertion of nasogastric tube.

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Exhaustive genetic analysis for congenital hypomyelination disorders using Comparative Genomic Hybridization Array.Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Genetic analysis about myelination associated genes using MLPA method and investigation for myelination processPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Journal Article] Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial-RNA-import protein PNPase cause delayed myelination2017

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Mucolipidosis IV: A milder form with novel mutations and serial MRI findings2016

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy.2015

Author(s)

Journal Title

DOI

Data Source

[Journal Article] A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease2015

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase I deficiency with a novel point mutation2014

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Progressive atrophy of the cerebrum in 2 Japanese sisters with microcephaly with simplified gyri and enlarged extraaxial space2011

Author(s)

uematu mitugu 植松貢

UEMATSU Mitsugu 植松貢