Numakura Chikahiko 沼倉周彦

… Alternative Names

NUMAKURA Chikahiko 沼倉周彦

Less

Researcher Number	00400549
Other IDs
Affiliation (Current)	2025: 埼玉医科大学, 医学部, 教授
Affiliation (based on the past Project Information) *help	2015 – 2021: 山形大学, 医学部, 講師 2013 – 2014: 山形大学, 医学部, 助教 2010: 山形大学, 医学部, 助教 2007 – 2008: Yamagata University, School of Medicine, Instructor 2006: 山形大学, 医学部, 助手
Review Section/Research Field	Principal Investigator Pediatrics Except Principal Investigator Pediatrics / Basic Section 58020:Hygiene and public health-related: including laboratory approach
Keywords	Principal Investigator DHPLC / GDAP1 / MFN2 / ミトコンドリア / 遣伝性ニューロパチー / Charcot-Marie-Tooth病 Except Principal Investigator MRP2 / HNF-1β / エクソーム解析 / 次世代シークエンサー … More / 甲状腺機能低下症 / 疫学調査 / 遺伝子解析 / 新生児マススクリーニング / TBL1X / IGSF1 / FT4スクリーニング / 新生児スクリーニング / 先天性甲状腺機能低下症 / 中枢性甲状腺機能低下症 / 次世代シーケンサ / 末期腎不全 / genetic FSGS / 日本人遺伝的背景 / クリニカルシーケンス / 巣状分節性糸球体硬化症 / ステロイド抵抗性ネフローゼ症候群 / 遺伝性腎疾患 / functional analysis / familial / transcriptional activity / IGF-1 / insulin / diabetes mellitus / 胆汁うっ滞 / 子宮内発育不全 / MPR2 / 変異体機能解析 / 家族性 / 転写活性 / IGF-I / インスリン / 糖尿病 / 呼吸鎖複合体 / 連鎖解析 / 軸索 / respiratory complex IV / cytochrome c oxidase / COX6A1 / チトクロームオキシダーゼ / 混合型 / 軸索型 / Charcot-Marie-Tooth病 / 遺伝性ニューロパチー / 代謝酵素 / ビタミンD受容体 / 遺伝子多型 / ゲノム / 疾患感受性遺伝子 / くる病 / ビタミンD欠乏症 Less

Clinical and molecular evaluation of central hypothyroidism in Japan
- Principal Investigator
  
  Nagasaki Keisuke
- Project Period (FY)
  2018 – 2021
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 58020:Hygiene and public health-related: including laboratory approach
- Research Institution
  Niigata University
Epidemiology and pathological elucidation of focal segmental glomerulosclerosis in Japan
- Principal Investigator
  
  Hashimoto Taeko
- Project Period (FY)
  2016 – 2019
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Yamagata University
Pathogenesis of Charcot-Marie-Tooth disease
- Principal Investigator
  
  HAYASAKA Kiyoshi
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Yamagata University
Association of gene polymorphism with vitamin D deficiency.
- Principal Investigator
  
  KITANAKA Sachiko
- Project Period (FY)
  2008 – 2010
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Yamagata University
ミトコンドリアネットワーク形成障害の病態についてPrincipal Investigator
- Principal Investigator
  
  沼倉周彦
- Project Period (FY)
  2006 – 2007
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Yamagata University
Analysis on the molecular mechanism underlying familial maturity-onset diabetes of the young.
- Principal Investigator
  
  KITANAKA Sachiko
- Project Period (FY)
  2006 – 2007
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Yamagata University

All 2021 2020 2015 2014 2010 2008 2007 2006

All Journal Article Presentation

[Journal Article] A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.2014
- Author(s)
  Tamiya G, Makino S, Hayashi M, Abe A, Numakura C, Ueki M, Tanaka A, Ito C, Toshimori K, Ogawa N, Terashima T, Maegawa H, Yanagisawa D, Tooyama I, Tada M, Onodera O, Hayasaka K.
- Journal Title
  
  Am J Hum Genet.
  
  Volume: 95 Issue: 3 Pages: 294-300
- DOI
  10.1016/j.ajhg.2014.07.013
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-24590400, KAKENHI-PROJECT-24592441, KAKENHI-PUBLICLY-25129701, KAKENHI-PROJECT-25293041, KAKENHI-PROJECT-25460403, KAKENHI-PROJECT-25461537, KAKENHI-PROJECT-25670087, KAKENHI-PROJECT-25860842, KAKENHI-PROJECT-25870074, KAKENHI-PROJECT-26870067
[Journal Article] Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome.2010
- Author(s)
  Numakura C, Kitanaka S, Kato M, Ishikawa S, Hamamoto Y, Katsushima Y, Kimura T, Hayasaka K.
- Journal Title
  
  Am J Med Genet Part A 152A
  
  Pages: 2355-2359
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591215
[Journal Article] Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome.2010
- Author(s)
  Numakura C, Kitanaka S, et al.
- Journal Title
  
  Am J Med Genet Part A
  
  Volume: 152A Pages: 2355-2359
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591215
[Journal Article] Achondroplasia and enchondromatosis: report of three boys.2007
- Author(s)
  C. Numakura, et. al.
- Journal Title
  
  Skeletal Radiol 36 (Suppl 1)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18599001
[Journal Article] Achondroplasia and enchondromatosis : report of three boys2007
- Author(s)
  Numakura C, et. al.
- Journal Title
  
  Skeletal Radiol 36 Suppl 1
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18599001
[Journal Article] Achondroplasia and enchondromatosis: report of three boys.2007
- Author(s)
  Numakura, C, et. al.
- Journal Title
  
  Skeletal Radiol 36 Suppl 1
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18599001
[Journal Article] Genetic and enzymatic analysis for two Japanese patients with idiopathic infantile arterial calcification.2006
- Author(s)
  Numakura C, et al.
- Journal Title
  
  J Bone Miner Metab 24
  
  Pages: 48-52
- NAID
  10017134287
- Data Source
  KAKENHI-PROJECT-18599001
[Journal Article] Genetic and enzymatic analysis for two Japanese patients with idiopathic infantile arterial calcification2006
- Author(s)
  Numakura C, et. al.
- Journal Title
  
  J Bone Miner Metab 24
  
  Pages: 48-52
- NAID
  10017134287
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18599001
[Journal Article] Genetic and enzymatic analysis for two Japanese patients with idiopathic infantile arterial calcification.2006
- Author(s)
  Numakura, C, et. al.
- Journal Title
  
  J Bone Miner Metab 24
  
  Pages: 48-52
- NAID
  10017134287
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18599001
[Presentation] 本邦におけるTSH単独欠損症に関する遺伝学的検討2021
- Author(s)
  柴田奈央、長崎啓祐、沼倉周彦、濱島崇、都研一、藤原幾麿
- Organizer
  第94回日本内分泌学会学術総会
- Data Source
  KAKENHI-PROJECT-18K10024
[Presentation] 本邦におけるTSH単独欠損症に関する遺伝学的検討2021
- Author(s)
  柴田奈央、沼倉周彦、濱島崇、都研一、藤原幾麿、森潤、長崎啓祐
- Organizer
  第54回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-18K10024
[Presentation] 遊離サイロキシン（FT4）スクリーニングによる先天性中枢性甲状腺機能低下症の検出2021
- Author(s)
  沼倉周彦
- Organizer
  第124回日本小児科学会学術集会
- Data Source
  KAKENHI-PROJECT-18K10024
[Presentation] 「新生児スクリーニングを見つめなおす」．先天性甲状腺機能低下症（CH）スクリーニングの問題点と今後の展望2021
- Author(s)
  沼倉周彦
- Organizer
  第54回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-18K10024
[Presentation] 「今知っておきたい新生児マススクリーニングの進歩」．遊離サイロキシン（FT4）スクリーニングによる先天性中枢性甲状腺機能低下症の検出2021
- Author(s)
  沼倉周彦
- Organizer
  第124回日本小児科学会学術集会
- Data Source
  KAKENHI-PROJECT-18K10024
[Presentation] FT4スクリーニングで検出したが、その後甲状腺機能が正常化した中隔視神経形成異常症の１例2020
- Author(s)
  沼倉周彦，村中あかり，三井哲夫
- Organizer
  第47回日本マススクリーニング学会学術集会
- Data Source
  KAKENHI-PROJECT-18K10024
[Presentation] 新生児スクリーニングで経験した興味深い症例提示とその対応．IGSF1異常症における低プロラクチン血症は遅れて出現する．2020
- Author(s)
  沼倉周彦
- Organizer
  第47回日本マススクリーニング学会学術集会
- Data Source
  KAKENHI-PROJECT-18K10024
[Presentation] 劣性軸索型および混合型Charcot-Marie-Tooth病における新規病因遺伝子COX6A1の同定2015
- Author(s)
  早坂清，田宮元，牧野悟士，沼倉周彦，林真貴子，阿部暁子，植木優夫，田中敦，他田正義，小野寺理
- Organizer
  第57回日本先天代謝異常学会
- Place of Presentation
  大阪国際会議場（大阪府大阪市）
- Year and Date
  2015-11-14
- Data Source
  KAKENHI-PROJECT-25461537
[Presentation] 良好な経過を示した低フォスファター症乳児型の一例2008
- Author(s)
  沼倉周彦, 他
- Organizer
  第42回日本小児内分泌学会
- Place of Presentation
  米子
- Year and Date
  2008-10-03
- Data Source
  KAKENHI-PROJECT-20591215
[Presentation] Osteoporosis-Pseudoglima syndrome の日本人例に対するパミドロネート投与の効果2007
- Author(s)
  沼倉周彦, 他
- Organizer
  第41回日本小児内分泌学会
- Place of Presentation
  横浜市
- Year and Date
  2007-11-07
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18599001

1. KITANAKA Sachiko (30431638)

# of Collaborated Projects: 2 results

# of Collaborated Products: 2 results
2. HAYASAKA Kiyoshi (20142961)

# of Collaborated Projects: 2 results

# of Collaborated Products: 1 results
3. ABE Akiko (10536949)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
4. TAKAHASHI Nobuya (20536958)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
5. Hashimoto Taeko (30507629)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
6. Nagasaki Keisuke (70419315)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
7. 入月浩美 (80793926)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
8. MAKINO Satoshi

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
9. 遠山育夫

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Numakura Chikahiko 沼倉 周彦

NUMAKURA Chikahiko 沼倉 周彦

Research Projects

Research Products

Co-Researchers

Clinical and molecular evaluation of central hypothyroidism in Japan

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Epidemiology and pathological elucidation of focal segmental glomerulosclerosis in Japan

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Pathogenesis of Charcot-Marie-Tooth disease

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Association of gene polymorphism with vitamin D deficiency.

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

ミトコンドリアネットワーク形成障害の病態についてPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Analysis on the molecular mechanism underlying familial maturity-onset diabetes of the young.

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Journal Article] A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.2014

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome.2010

Author(s)

Journal Title

Data Source

[Journal Article] Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome.2010

Author(s)

Journal Title

Data Source

[Journal Article] Achondroplasia and enchondromatosis: report of three boys.2007

Author(s)

Journal Title

Data Source

[Journal Article] Achondroplasia and enchondromatosis : report of three boys2007

Author(s)

Journal Title

Description

Data Source

[Journal Article] Achondroplasia and enchondromatosis: report of three boys.2007

Author(s)

Journal Title

Description

Data Source

[Journal Article] Genetic and enzymatic analysis for two Japanese patients with idiopathic infantile arterial calcification.2006

Author(s)

Journal Title

NAID

Data Source

[Journal Article] Genetic and enzymatic analysis for two Japanese patients with idiopathic infantile arterial calcification2006

Author(s)

Journal Title

NAID

Description

Data Source

[Journal Article] Genetic and enzymatic analysis for two Japanese patients with idiopathic infantile arterial calcification.2006

Numakura Chikahiko 沼倉周彦

NUMAKURA Chikahiko 沼倉周彦

[Presentation] FT4スクリーニングで検出したが、その後甲状腺機能が正常化した中隔視神経形成異常症の１例2020