KAWAME HIROSHI 川目裕

… Alternative Names

KAWAME Hiroshi 川目裕

KAWAME H. 川目裕

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Researcher Number	60246395
Other IDs
Affiliation (Current)	2025: 東京慈恵会医科大学, 医学部, 教授 2025: 東北大学, 東北メディカル・メガバンク機構, 客員教授
Affiliation (based on the past Project Information) *help	2013 – 2015: 東北大学, 東北メディカル・メガバンク機構, 教授 2001: 信州大学, 医学部・附属病院, 助手 1999 – 2000: 東京慈恵会医科大学, 医学部, 助手 1996 – 1999: 東京慈恵会医科大学, 医学部・小児科, 助手 1995: 東京慈恵会医科大学, 医学部・小児科学, 助手
Review Section/Research Field	Principal Investigator Pediatrics Except Principal Investigator Pediatrics / Human genetics / Pediatrics
Keywords	Principal Investigator ゴーシェ病 / ゴ-シェ病 / 遺伝子変異 / 脂質代謝 / HPLC / リコンビナント遺伝子 / phenotype / genotype / 日本人 / 神経症状 … More / heterogenous / 神経症状発現 / 遺伝子解析 / Phenotype Correlation / Genotype / 人種差 … More Except Principal Investigator DBCRs / FISH / fluorescence in situ hybridization / Mendelian Cytogenetics / 中枢神経 / 臨床表現型 / 遺伝子治療 / リソゾーム病 / balanced translocation / chromosome rearrangement / chromosome abnormality / positional cloning / BAC / YAC / ボジショナルクローニング / BACクローン / 思春期早発症 / 染色体構造異常 / FISH解析 / 特発性思春期早発症 / 染色体均衡型構造異常 / 相互転座 / 均衡型構造異常 / 染色体異常 / ポジショナルクローニング / Gaucher disease / metachromatic leukodystrophy / MPS VII mice / beta-glucuronidase / 異染性脳白質変性症 / Gaucher病 / ムコ多糖症VII型 / リソゾーム蓄積症 / Animal model / Gene mutation / Retrovirus / Adenovirus / Gene Tharapy / Inborn errors of metabolism / 遺伝子導入効率 / 骨髄移植 / 酵素補充療法 / ゴ-シェ病 / 動物モデル / 中枢神経症状 / 遺伝子変異 / 先天代謝異常症 / 遺伝子診断 / 遺伝性疾患 / 先天奇形症候群 / RAF１遺伝子 / 遺伝子解析方法 / ヌーナン症候群関連疾患 / ヌーナン症候群類縁疾患 / RAF1遺伝子 / ヌーナン症候群 / 遺伝カウンセリング / 遺伝学的検査 / 先天異常症候群 Less

Understanding the pathogenic mechanism for Noonan syndrome with RAF1 mutation
- Principal Investigator
  
  KOBAYASHI Tomoko
- Project Period (FY)
  2012 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University
Registration of disease-associated balanced chromosome rearrangements (DBCRs) and FISH analyses of the breakpoints for positional cloning strategy.
- Principal Investigator
  
  FUKUSHIMA Yoshimitsu
- Project Period (FY)
  2000 – 2003
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Human genetics
- Research Institution
  Shinshu University
ゴーシェ病の神経症状発現機序の解明Principal Investigator
- Principal Investigator
  
  川目裕
- Project Period (FY)
  1999 – 2000
- Research Category
  
  Grant-in-Aid for Encouragement of Young Scientists (A)
- Research Field
  
  Pediatrics
- Research Institution
  Jikei University School of Medicine
Gene therapy for CNS involvement of Lysosomal storage disease using various viral vector
- Principal Investigator
  
  ITO Fumiyuki
- Project Period (FY)
  1998 – 1999
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  The Jikei University School of Medicine
ゴーシェ病の神経症状発現の機序の解明Principal Investigator
- Principal Investigator
  
  川目裕
- Project Period (FY)
  1997 – 1998
- Research Category
  
  Grant-in-Aid for Encouragement of Young Scientists (A)
- Research Field
  
  Pediatrics
- Research Institution
  Jikei University School of Medicine
Studies of inherited neurodegenerative disease ; mutation analysis and gene therapy
- Principal Investigator
  
  MAEKAWA K.
- Project Period (FY)
  1997 – 1998
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  The Jikei University School of Medicine
ゴ-シェ病の神経症状発現の機序の解明Principal Investigator
- Principal Investigator
  
  川目裕
- Project Period (FY)
  1996
- Research Category
  
  Grant-in-Aid for Encouragement of Young Scientists (A)
- Research Field
  
  Pediatrics
- Research Institution
  Jikei University School of Medicine
日本人ゴ-シェ病の遺伝子解析と臨床症状との相関Principal Investigator
- Principal Investigator
  
  川目裕
- Project Period (FY)
  1995
- Research Category
  
  Grant-in-Aid for Encouragement of Young Scientists (A)
- Research Field
  
  Pediatrics
- Research Institution
  Jikei University School of Medicine

All 2015 2014 Other

All Journal Article Presentation

[Journal Article] 先天異常症の遺伝カウンセリング2015
- Author(s)
  川目裕
- Journal Title
  
  産婦人科の実際
  
  Volume: 64 Pages: 403-409
- Data Source
  KAKENHI-PROJECT-24591498
[Journal Article] 神経症候群（第2版） Robert症候群/ SCアザラシ肢症候群2014
- Author(s)
  小林朋子, 川目裕
- Journal Title
  
  日本臨床別冊
  
  Volume: 29 Pages: 658-660
- Data Source
  KAKENHI-PROJECT-24591498
[Journal Article] 神経症候群（第2版） Robinow症候群2014
- Author(s)
  小林朋子, 川目裕
- Journal Title
  
  日本臨床別冊
  
  Volume: 29 Pages: 661-662
- Data Source
  KAKENHI-PROJECT-24591498
[Presentation] 遺伝と多様性を学ぶための小児を対象とした遺伝教育ツール開発の取り組み2015
- Author(s)
  小林朋子・相澤弥生・菅原美智子・櫻井美佳・檀上稲穂・山口由美・栗木美穂・栗山進一・長神風二・安田純・川目裕・山本雅之・鈴木洋一
- Organizer
  日本人類遺伝学会第60回大会
- Place of Presentation
  京王プラザホテル（東京・新宿）
- Year and Date
  2015-10-14
- Data Source
  KAKENHI-PROJECT-24591498
[Presentation] マイクロアレイ染色体検査がもたらす心理社会的影響～系統レビュー～2015
- Author(s)
  小林朋子・相澤弥生・川目裕
- Organizer
  第39回日本遺伝カウンセリング学会学術集会
- Place of Presentation
  三井ガーデンホテル千葉（千葉・千葉）
- Year and Date
  2015-06-25
- Data Source
  KAKENHI-PROJECT-24591498
[Presentation] マイクロアレイ染色体検査がもたらす心理社会的影響～症例報告～2015
- Author(s)
  小林朋子・菊池敦生・市野井那津子・佐藤亮・呉繁夫・川目裕
- Organizer
  第39回日本遺伝カウンセリング学会学術集会
- Place of Presentation
  三井ガーデンホテル千葉（千葉・千葉）
- Year and Date
  2015-06-25
- Data Source
  KAKENHI-PROJECT-24591498
[Presentation] 8q22.3領域の微細欠失を認めた女児例2015
- Author(s)
  小林朋子・菊池敦生・森田浩之・市野井那津子・佐藤亮・呉繁夫・川目裕
- Organizer
  第38回日本小児遺伝学会学術集会
- Place of Presentation
  パシフィコ横浜会議センター（神奈川・横浜）
- Year and Date
  2015-07-25
- Data Source
  KAKENHI-PROJECT-24591498
[Presentation] Infantile spasmsを呈したPallister-Killian症候群の2例
- Author(s)
  小林朋子・植松貢・中山東城・菊池敦生・遠藤若葉・佐藤寛記・佐藤優子・鈴木智・福與なおみ・久保田由紀・川目裕・呉繁夫
- Organizer
  第56回日本小児神経学会総会
- Place of Presentation
  アクトシティ浜松（静岡・浜松）
- Year and Date
  2014-05-29 – 2014-05-31
- Data Source
  KAKENHI-PROJECT-24591498
[Presentation] DYNC1H1新規変異を同定した大脳皮質形成異常と両下肢筋萎縮を認める一例～明らかになってきたDYNC1H1変異型と表現型との関連～
- Author(s)
  小林朋子・萩野谷和裕・宮武聡子・才津浩智・植松貢・中山東城・福與なおみ・川目裕・呉繁夫・松本直通
- Organizer
  日本人類遺伝学会第59回大会
- Place of Presentation
  タワーホール船堀（東京・江戸川）
- Year and Date
  2014-11-20 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-24591498
[Presentation] シリーズ形成スパズム発作に対してACTH療法が有効だったPallister-Killian症候群の2例
- Author(s)
  小林朋子・植松貢・中山東城・菊池敦生・遠藤若葉・佐藤寛記・佐藤優子・鈴木智・福與なおみ・久保田由紀・川目裕・呉繁夫
- Organizer
  第48回日本てんかん学会学術集会
- Place of Presentation
  京王プラザホテル（東京・新宿）
- Year and Date
  2014-10-02 – 2014-10-03
- Data Source
  KAKENHI-PROJECT-24591498

1. OHASHI T. (60160595)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
2. IDA H. (90167255)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
3. ETO Y. (50056909)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
4. KOBAYASHI Tomoko (50436119)

# of Collaborated Projects: 1 results

# of Collaborated Products: 9 results
5. KURE Shigeo (10205221)

# of Collaborated Projects: 1 results

# of Collaborated Products: 5 results
6. MATSUBARA Yoichi (00209602)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
7. MAEKAWA K. (80056613)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
8. MATSUSHIMA H. (70190460)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
9. ITO Fumiyuki (10057010)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
10. FUKUSHIMA Yoshimitsu (70273084)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
11. KOSHO Tomoki (90276311)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
12. WADA Takahito (70359727)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
13. WAKUI Keiko (50324249)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
14. MURASE Sumio (70200285)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
15. KUBOTA Takeo (70293511)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
16. 坂爪悟 (70306174)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results

KAWAME HIROSHI 川目 裕

KAWAME Hiroshi 川目 裕

KAWAME H. 川目 裕

Research Projects

Research Products

Co-Researchers

Understanding the pathogenic mechanism for Noonan syndrome with RAF1 mutation

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Registration of disease-associated balanced chromosome rearrangements (DBCRs) and FISH analyses of the breakpoints for positional cloning strategy.

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

ゴーシェ病の神経症状発現機序の解明Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Gene therapy for CNS involvement of Lysosomal storage disease using various viral vector

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

ゴーシェ病の神経症状発現の機序の解明Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Studies of inherited neurodegenerative disease ; mutation analysis and gene therapy

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

ゴ-シェ病の神経症状発現の機序の解明Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

日本人ゴ-シェ病の遺伝子解析と臨床症状との相関Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Journal Article] 先天異常症の遺伝カウンセリング2015

Author(s)

Journal Title

Data Source

[Journal Article] 神経症候群（第2版） Robert症候群/ SCアザラシ肢症候群2014

Author(s)

Journal Title

Data Source

[Journal Article] 神経症候群（第2版） Robinow症候群2014

Author(s)

Journal Title

Data Source

[Presentation] 遺伝と多様性を学ぶための小児を対象とした遺伝教育ツール開発の取り組み2015

Author(s)

Organizer

Place of Presentation

Year and Date

Data Source

[Presentation] マイクロアレイ染色体検査がもたらす心理社会的影響～系統レビュー～2015

Author(s)

Organizer

Place of Presentation

Year and Date

Data Source

[Presentation] マイクロアレイ染色体検査がもたらす心理社会的影響～症例報告～2015

Author(s)

KAWAME HIROSHI 川目裕

KAWAME Hiroshi 川目裕

KAWAME H. 川目裕