NARUMI Satoshi 鳴海覚志

Researcher Number	21791006
Affiliation (based on the past Project Information) *help	2010: 慶應義塾大学, 医学部, 助教
Review Section/Research Field	Except Principal Investigator Pediatrics
Keywords	Except Principal Investigator 先天性甲状腺機能低下症 / 小児内分泌学

Molecular Mechanisms and Pathophysiology of Congenital Hypothyroidism
- Principal Investigator
  
  HASEGAWA Tomonobu
- Project Period (FY)
  2008 – 2010
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Keio University

All 2010 2009 2008 Other

All Journal Article Presentation

[Journal Article] Transcription factors mutations and congenital hypothyroidism : Systematic careening of a population-based cohort of Japanese patients2010
- Author(s)
  Narumi S, Muroya K, Asakura Y, Adachi M, Hasegawa T
- Journal Title
  
  J Clin Endocrinol Metab 95
  
  Pages: 1981-1985
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591232
[Journal Article] A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification.2010
- Author(s)
  Asakura Y, Narumi S, Muroya K, Fujita K, Aida N, Hasegawa T, Adachi M.
- Journal Title
  
  Am J Med Genet
  
  Volume: 152A Pages: 1793-1797
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591232
[Journal Article] One novel and two recurrent THRB mutations associated with resistance to thyroid hormone : Structure-based computational mutation prediction2010
- Author(s)
  Narumi S, Cho H, Tamada I, Kozu Y, Tsuchiya T, Nagai T, Hasegawa T
- Journal Title
  
  Clin Pediatr Endocrinol 19
  
  Pages: 91-99
- NAID
  10031199615
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591232
[Journal Article] Progression of Goiter in Pendred Syndrome is Associated with Increase of Thyroidal Iodine Uptake but not with Iodine Organification Defect : Report of a Patient with SLC26A4 Mutations2010
- Author(s)
  Asakura Y, Narumi S, Muroya K, Fujita K, Aida N, Hasegawa T, Adachi M
- Journal Title
  
  Am J Med Genet 152A
  
  Pages: 1793-1797
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591232
[Journal Article] Transcription-factor mutations and congenital hypothyroidism : Systematic genetic screening of a population-based cohort of Japanese patients2010
- Author(s)
  Narumi S, Muroya K, Asakura Y, Adachi M, Hasegawa T
- Journal Title
  
  J Clin Endocrinol Metab 95
  
  Pages: 1981-1985
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591232
[Journal Article] One novel and two recurrent THRB mutations associated with resistance to thyroid hormone : Structure-based computational mutation prediction.2010
- Author(s)
  Narumi S, Cho H, Tamada I, Kozu Y, Tsuchiya T, Nagai T, Hasegawa T.
- Journal Title
  
  Clin Pediatr Endocrinol
  
  Volume: 19 Pages: 91-99
- NAID
  10031199615
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591232
[Journal Article] 家族性先天性甲状腺機能低下症の臨床的・分子遺伝学的検討2010
- Author(s)
  長崎啓祐、鳴海覚志、浅見直、小川洋平、菊池透、長谷川奉延、内山聖
- Journal Title
  
  ホと臨床 57
  
  Pages: 1001-1005
- Data Source
  KAKENHI-PROJECT-20591232
[Journal Article] TSHR mutations as a cause of congenital hypothyroidism in Japan : a population-based genetic study.2009
- Author(s)
  Narumi S
- Journal Title
  
  J Clin Endocrinol Metab 94
  
  Pages: 1317-1323
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591232
[Journal Article] TSHR mutations as a cause of congenital hypothyroidism in Japan : a population-based genetic study2009
- Author(s)
  Narumi S, Muroya K, Abe Y, Yasui M, Asakura Y, Adachi M, Hasegawa T
- Journal Title
  
  J Clin Endocrinol Metab 94
  
  Pages: 1317-1323
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591232
[Journal Article] 先天性甲状腺機能低下症におけるTSH不応症の臨床的および遺伝学的検討2008
- Author(s)
  長崎啓祐、鳴海覚志、浅見直、菊池透、長谷川奉延、内山聖
- Journal Title
  
  ホと臨床 56
  
  Pages: 1213-1216
- Data Source
  KAKENHI-PROJECT-20591232
[Journal Article] 先天性甲状腺機能低下症
- Author(s)
  鳴海覚志、長谷川奉延
- Journal Title
  
  ホと臨床 (in press)
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] PAX8変異の機能喪失の機序は多様である:転写因子解析のピットフォール2010
- Author(s)
  鳴海覚志、室谷浩二、朝倉由美、安達昌功、長谷川奉延
- Organizer
  第44回日本小児内分泌学会学術集会
- Place of Presentation
  大阪
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] 甲状腺形成異常におけるCopy number variation異常解析2010
- Author(s)
  鳴海覚志、室谷浩二、朝倉由美、安達昌功、長崎啓祐、天野直子、石井智弘、石井美穂、江見充、長谷川奉延
- Organizer
  第53回日本甲状腺学会
- Place of Presentation
  長崎
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] Genetic congenital hypothyroidism : who's at risk?, and how do we identify them?2010
- Author(s)
  Narumi S, Amano N, ishii T, Murota K, Asakura Y, Adachi M, Hasegawa T
- Organizer
  Pediatric Academic Societies' 2010 Annual meeting
- Place of Presentation
  Tronto
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] PAX8変異の機能喪失機序は多様である:転写因子解析のピットフォール2010
- Author(s)
  鳴海覚志、室谷浩二、朝倉由美、安達昌功、長谷川奉延
- Organizer
  第44回日本小児内分泌学会
- Place of Presentation
  大阪
- Year and Date
  2010-10-08
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] Congenital hypothyroidism due to PAX8 mutations : Clinical and genetic features2010
- Author(s)
  Narumi S, Muroya K, Asakura Y, Amano N, Ishii T, Adachi M, Hasegawa T
- Organizer
  International Symposium on Pediatric Endocrinology, official ICE 2010 Satellite Symposium
- Place of Presentation
  Tokyo
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] 甲状腺ホルモン受容体β遺伝子にヘテロ接合性変異を認めた甲状腺ホルモン不応症の7歳女児例2010
- Author(s)
  後藤元秀、河田泰定、山本幸代、石井雅宏、荒木俊介、川越倫子、久保和泰、楠原浩一、鳴海覚志、長谷川奉延
- Organizer
  第44回日本小児内分泌学会学術集会
- Place of Presentation
  大阪
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] TSH受容体遺伝子(TSHR)に新規変異V711fsを認めた甲状腺機能低下症の1家系2010
- Author(s)
  小野真、鳴海覚志、宮井健太郎、松原洋平、高澤啓、滝沢文彦、鹿島田健一、長谷川奉延、大西寿和
- Organizer
  第83回日本内分泌学会学術総会
- Place of Presentation
  京都
- Year and Date
  2010-03-26
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] 一過性甲状腺機能低下症におけるDUOX2遺伝子解析の検討2010
- Author(s)
  長崎啓祐、鳴海覚志、小川洋平、菊池透、浅見直、長谷川奉延、内山聖
- Organizer
  第53回日本甲状腺学会
- Place of Presentation
  長崎
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] Genetic congenital hypothyroidism : who's at risk?, and how do we identify them?2010
- Author(s)
  Narumi S, Amano N, Ishii T, Muroya K, Asakura Y, Adachi M, Hasegawa T.
- Organizer
  Pediatric Academic Societies' 2010 Annual Meeting
- Place of Presentation
  トロント
- Year and Date
  2010-05-01
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] Congenital hypothyroidism due to PAX8 mutations : Clinical and genetic features2010
- Author(s)
  Narumi S, Muroya K, Asakura Y, Amano N, Ishii T, Adachi M, Hasegawa T
- Organizer
  International Symposium on Pediatric Endocrinology, official ICE 2010 Satellite Symposium
- Place of Presentation
  東京
- Year and Date
  2010-03-31
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] 重症型甲状腺機能低下、Tgの高値を示し、DUOX2異常をヘテロ接合性に認めた同胞例2009
- Author(s)
  吉田彩子、鈴木潤一、齊藤宏、和田美夏、浦上達彦、鳴海覚志、長谷川奉延
- Organizer
  第43回日本小児内分泌学会
- Place of Presentation
  宇都宮
- Year and Date
  2009-10-03
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] TGを含む3遺伝子に配列変化を認めた甲状腺機能低下症の同胞例2009
- Author(s)
  鳴海覚志、井ノ口美香子、天野直子、石井智弘、長谷川奉延
- Organizer
  第19回臨床内分泌代謝Update
- Place of Presentation
  東京
- Year and Date
  2009-03-13
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] 新生児マススクリーニングでは発見されなかったPAX-8遺伝子異常による原発性甲状腺機能低下症の1家系2009
- Author(s)
  山本幸代、荒木俊介、久保和泰、川越倫子、河田泰定、土橋一重、白幡聡、鳴海覚志、長谷川奉延
- Organizer
  第82回日本内分泌学会学術総会
- Place of Presentation
  前橋
- Year and Date
  2009-04-23
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] Genetic congenital hypothyroidism : who's at risk?, and how do we identify them?2009
- Author(s)
  Narumi S, Murota K, Asakura Y, Amano N, Ishii T, Adachi M, Hasegawa T
- Organizer
  LWPES/ESPE 8^<th> Joint Meeting
- Place of Presentation
  New York
- Year and Date
  2009-09-12
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] PAX8変異陽性甲状腺細胞は胎児甲状腺様の組織像を呈する2009
- Author(s)
  鳴海覚志、吉田明、安達昌功、朝倉由美、室谷浩二、亀山香織、長谷川奉延
- Organizer
  第52回日本甲状腺学会
- Place of Presentation
  名古屋
- Year and Date
  2009-11-04
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] TSH受容体遺伝子に新規変異を認めた甲状腺機能低下症の1家族例2009
- Author(s)
  小野真、鳴海覚志、大西寿和、宮井健太郎、松原洋平、高澤啓、滝沢文彦、鹿島田健一、長谷川奉延、水谷修紀
- Organizer
  第43回日本小児内分泌学会
- Place of Presentation
  宇都宮
- Year and Date
  2009-10-01
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] Genetic congenital hypothyroidism : who's at risk?, and how do we identify them?2009
- Author(s)
  Narumi S, Murota, K, Asakura, Y, Amano N, Ishii T, Adachi M, Hasegawa T
- Organizer
  LWPES/ESPE 8^<th> Joint Meeting
- Place of Presentation
  ニューヨーク
- Year and Date
  2009-09-12
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] PAX8変異陽性甲状腺細胞は胎児甲状腺様の組織像を呈する2009
- Author(s)
  鳴海覚志、吉田明、安達昌功、朝倉由美、室谷浩二、亀山香織、長谷川奉延
- Organizer
  第43回日本小児内分泌学会
- Place of Presentation
  宇都宮
- Year and Date
  2009-10-01
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] 先天性甲状腺機能低下症におけるTSH不応症の臨床的及び遺伝学的検討2008
- Author(s)
  長崎啓祐、鳴海覚志、浅見直、小川洋平、菊池透、長谷川奉延、内山聖
- Organizer
  第51回日本甲状腺学会
- Place of Presentation
  宇都宮
- Year and Date
  2008-11-22
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] 家族性先天性甲状腺機能低下症の臨床的・分子遺伝学的検討2008
- Author(s)
  長崎啓祐、鳴海覚志、小川洋平、菊池透、長谷川奉延、浅見直
- Organizer
  第42回日本小児内分泌学会
- Place of Presentation
  米子
- Year and Date
  2008-10-02
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] 先天性甲状腺機能低下症における甲状腺転写因子群の包括的遺伝子解析2008
- Author(s)
  鳴海覚志、室谷浩二、朝倉由美、天野直子、石井智弘、安達昌功、長谷川奉延
- Organizer
  第42回日本小児内分泌学会
- Place of Presentation
  米子
- Year and Date
  2008-10-02
- Data Source
  KAKENHI-PROJECT-20591232

1. HASEGAWA Tomonobu (20189533)

# of Collaborated Projects: 1 results

# of Collaborated Products: 31 results

NARUMI Satoshi 鳴海 覚志

Research Projects

Research Products

Co-Researchers

Molecular Mechanisms and Pathophysiology of Congenital Hypothyroidism

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Journal Article] Transcription factors mutations and congenital hypothyroidism : Systematic careening of a population-based cohort of Japanese patients2010

Author(s)

Journal Title

Data Source

[Journal Article] A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification.2010

Author(s)

Journal Title

Data Source

[Journal Article] One novel and two recurrent THRB mutations associated with resistance to thyroid hormone : Structure-based computational mutation prediction2010

Author(s)

Journal Title

NAID

Data Source

[Journal Article] Progression of Goiter in Pendred Syndrome is Associated with Increase of Thyroidal Iodine Uptake but not with Iodine Organification Defect : Report of a Patient with SLC26A4 Mutations2010

Author(s)

Journal Title

Data Source

[Journal Article] Transcription-factor mutations and congenital hypothyroidism : Systematic genetic screening of a population-based cohort of Japanese patients2010

Author(s)

Journal Title

Data Source

[Journal Article] One novel and two recurrent THRB mutations associated with resistance to thyroid hormone : Structure-based computational mutation prediction.2010

Author(s)

Journal Title

NAID

Data Source

[Journal Article] 家族性先天性甲状腺機能低下症の臨床的・分子遺伝学的検討2010

Author(s)

Journal Title

Data Source

[Journal Article] TSHR mutations as a cause of congenital hypothyroidism in Japan : a population-based genetic study.2009

Author(s)

Journal Title

Data Source

[Journal Article] TSHR mutations as a cause of congenital hypothyroidism in Japan : a population-based genetic study2009

Author(s)

Journal Title

Data Source

[Journal Article] 先天性甲状腺機能低下症におけるTSH不応症の臨床的および遺伝学的検討2008

Author(s)

Journal Title

Data Source

[Journal Article] 先天性甲状腺機能低下症

Author(s)

Journal Title

Data Source

[Presentation] PAX8変異の機能喪失の機序は多様である:転写因子解析のピットフォール2010

Author(s)

Organizer

Place of Presentation

Data Source

[Presentation] 甲状腺形成異常におけるCopy number variation異常解析2010

Author(s)

Organizer

Place of Presentation

Data Source

[Presentation] Genetic congenital hypothyroidism : who's at risk?, and how do we identify them?2010

Author(s)

Organizer

Place of Presentation

Data Source

[Presentation] PAX8変異の機能喪失機序は多様である:転写因子解析のピットフォール2010

Author(s)

Organizer

Place of Presentation

Year and Date

Data Source

[Presentation] Congenital hypothyroidism due to PAX8 mutations : Clinical and genetic features2010

Author(s)

Organizer

NARUMI Satoshi 鳴海覚志