Narumi Satoshi 鳴海覚志

… Alternative Names

NARUMI Satoshi 鳴海覚志

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Researcher Number	40365317
Other IDs
Affiliation (Current)	2025: 慶應義塾大学, 医学部(信濃町), 教授 2025: 国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, 共同研究員
Affiliation (based on the past Project Information) *help	2023 – 2024: 慶應義塾大学, 医学部(信濃町), 教授 2023: 国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, リサーチアソシエイト 2016 – 2022: 国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, 室長 2016: 国立研究開発法人国立成育医療研究センター, 分子内分泌部, 室長 2015: 慶應義塾大学, 医学部, 助教 … More 2013 – 2015: 慶應義塾大学, 医学部, 特任助教 2012: 慶應義塾大学, 医学部, 助教 2009 – 2010: Keio University, 医学部, 助教 Less
Review Section/Research Field	Principal Investigator Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related / Medium-sized Section 52:General internal medicine and related fields Except Principal Investigator Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related / Basic Section 54040:Metabolism and endocrinology-related / Basic Section 54010:Hematology and medical oncology-related
Keywords	Principal Investigator 先天性甲状腺機能低下症 / 遺伝学 / 変異 / ゲノム / ディープイントロン / オープンプロマチン / 連鎖解析 / 調節領域 / スプライシング / 全ゲノム解析 … More / メンデル遺伝 / 非コード領域 / 機能解析 / 構造解析 / 相分離 / 遺伝性疾患 / 液相分離 / 単一遺伝子疾患 / 先天性疾患 / MIRAGE症候群 / SAMD9 / 液液相分離 / オミックス / 複合体 / 近接性標識 / タンパク質相互作用 / 近接性ラベリング / 転写複合体 / 転写因子 / プロキシミティラベリング / 転写制御 / 転写 / 次世代シーケンシング / メチル化異常 / 小児内分泌学 / メチローム / エピジェネティクス / 甲状腺形成異常 / 小児内内分泌学 / 受容体 / ホルモン / 分子生物学 / 内分泌学 / 小児科学 / たんぱく質 / 遺伝子 / プロテアソーム / たんぱく質不安定性 / TSH受容体 / ゲノム構造異常 / 分子遺伝学 / 甲状腺発生異常 / マイクロアレイ / 発生・分化 … More Except Principal Investigator MIRAGE症候群 / 先天性甲状腺機能低下症 / GHRH受容体 / 小胞体ストレス / ヒト化モデルマウス / 成長ホルモン分泌不全 / 副腎 / 遺伝子改変マウス / SAMD9 / 遺伝性素因 / MDS / TP53 / ポリメラーゼε / 炎症性腸疾患 / 先天性貧血 / 遺伝性疾患 / 病理所見 / 表現型 / モデルマウス / ゲノム編集 / 疾患モデルマウス / 疾患モデルメダカ / 疾患モデル動物 / 疾患モデル細胞 / MIRAGEs症候群 / 甲状腺 / 罹患率 / 遺伝子 / 小児 / リスク因子 / 遺伝 / 分子機能 / TSHR / 環境因子 / 機能解析 / 有病率 / DUOX2 Less

顕性遺伝性成長ホルモン欠損モデルマウスの作製と成長ホルモン分泌不全発症機序の解明
- Principal Investigator
  
  有安大典
- 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
  Kumamoto University
Genomic investigation on congenital endocrine disorders with a focus on non-coding regions.Principal Investigator
- Principal Investigator
  
  鳴海覚志
- Project Period (FY)
  2023 – 2026
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Keio University
Research for a novel single gene disorder with inflammatory bowel disease and congenital anemia in infancy.
- Principal Investigator
  
  Takeuchi Ichiro
- Project Period (FY)
  2021 – 2023
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  National Center for Child Health and Development
小児・AYA世代におけるMDSの発生機序と治療戦略の解明
- Principal Investigator
  
  平林真介
- Project Period (FY)
  2021 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 54010:Hematology and medical oncology-related
- Research Institution
  Hokkaido University
Pathogenesis of adrenal insufficiency in MIRAGE syndrome revealed by genetically modified mouse
- Principal Investigator
  
  Hasegawa Tomonobu
- Project Period (FY)
  2021 – 2023
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 54040:Metabolism and endocrinology-related
- Research Institution
  Keio University
Dissecting transcription factors using proximity labeling analysesPrincipal Investigator
- Principal Investigator
  
  Narumi Satoshi
- Project Period (FY)
  2019 – 2020
- Research Category
  
  Grant-in-Aid for Challenging Research (Exploratory)
- Review Section
  
  Medium-sized Section 52:General internal medicine and related fields
- Research Institution
  National Center for Child Health and Development
Functional, structural and pathological analysis of SAMD9/SAMD9L, liquid-liquid phase separation-related moleculesPrincipal Investigator
- Principal Investigator
  
  Satoshi Narumi
- Project Period (FY)
  2019 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  National Center for Child Health and Development
The pathogenesis of MIRAGE syndrome revealed by model mice using genome editing
- Principal Investigator
  
  Hasegawa Tomonobu
- Project Period (FY)
  2018 – 2020
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 54040:Metabolism and endocrinology-related
- Research Institution
  Keio University
Model cell-line and model animals of MIRAGE syndrome
- Principal Investigator
  
  Hasegawa Tomonobu
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Keio University
Methylome Analysis of Thyroid DysgenesisPrincipal Investigator
- Principal Investigator
  
  Narumi Satoshi
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  National Center for Child Health and Development
  Keio University
Functional characterization of a novel TSH receptor mutation (V711fs) with protein instabilityPrincipal Investigator
- Principal Investigator
  
  NARUMI Satoshi
- Project Period (FY)
  2012 – 2014
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Keio University
Can simultaneous mutations in TSHR and DUOX2 cause congenital hypothyroidism?
- Principal Investigator
  
  SUWANAI Ayuko
- Project Period (FY)
  2012 – 2013
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Keio University
Prevalence, clinical manifestation, and molecular mechanism of congenital hypothyroidism due to DUOX2 abnormality
- Principal Investigator
  
  HASEGAWA TOMONOBU
- Project Period (FY)
  2011 – 2013
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Keio University
Copy Number Variation as a Cause of Thyroid dysgenesisPrincipal Investigator
- Principal Investigator
  
  NARUMI Satoshi
- Project Period (FY)
  2009 – 2010
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Keio University

[Journal Article] A Small-for-Gestational-Age Infant with MIRAGE Syndrome Who Developed Heat Stroke and Rhabdomyolysis due to Severe Temperature Instability2023
- Author(s)
  Saito K, Nakagawa R, Narumi S, Ohashi H, Ishiguro A, Kabe K.
- Journal Title
  
  Neonatology.
  
  Volume: in press Issue: 3 Pages: 390-394
- DOI
  10.1159/000529762
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19H03627
[Journal Article] Discovery of MIRAGE syndrome.2022
- Author(s)
  Narumi S.
- Journal Title
  
  Pediatr Int.
  
  Volume: 64 Issue: 1
- DOI
  10.1111/ped.15283
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H03627
[Journal Article] Cord Blood Transplantation in 2 Infants Presenting Monosomy 7 Clonal Hematopoiesis: SAMD9 / SAMD9L Germline Mutation.2022
- Author(s)
  Hirai M, Yagasaki H, Kanezawa K, Ueno M, Shimozawa K, Imai K, Morio T, Kato M, Gocho Y, Narumi S, Ebihara Y, Morioka I.
- Journal Title
  
  J Pediatr Hematol Oncol.
  
  Volume: 45 Issue: 2 Pages: e290-e293
- DOI
  10.1097/mph.0000000000002578
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19H03627
[Journal Article] The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms.2021
- Author(s)
  Kawashima-Sonoyama Y, Okuno K, Dohmoto T, Tanase-Nakao K, Narumi S, Namba N.
- Journal Title
  
  Hum Genome Var.
  
  Volume: 8 Issue: 1 Pages: 27-27
- DOI
  10.1038/s41439-021-00158-6
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H03627, KAKENHI-PROJECT-20K12668
[Journal Article] An improved macromolecular crowding sensor CRONOS for detection of crowding changes in membrane-less organelles under stressed conditions.2021
- Author(s)
  Miyagi T, Yamanaka Y, Harada Y, Narumi S, Hayamizu Y, Kuroda M, Kanekura K.
- Journal Title
  
  Biochem Biophys Res Commun.
  
  Volume: 583 Pages: 29-34
- DOI
  10.1016/j.bbrc.2021.10.055
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H03627, KAKENHI-PROJECT-20H03593, KAKENHI-PROJECT-21H02706
[Journal Article] Acquired uniparental disomy of chromosome 7 in a patient with MIRAGE syndrome that veiled a pathogenic SAMD9 variant2021
- Author(s)
 Tanase-Nakao K, Kawai M, Wada K, Kagami M, Narumi S.
- Journal Title
 
 Clinical Pediatric Endocrinology
 
 Volume: 30 Issue: 4 Pages: 163-169
- DOI
 10.1297/cpe.30.163
- NAID
 130008095741
- ISSN
 0918-5739, 1347-7358
- Language
 English
- Peer Reviewed / Open Access
- Data Source
 KAKENHI-PROJECT-19H03627, KAKENHI-PROJECT-21K07881
[Journal Article] Inactivation of a Frameshift TSH Receptor Variant Val711Phefs*18 is Due to Acquisition of a Hydrophobic Degron.2021
- Author(s)
  Sugisawa C, Ono M, Kashimada K, Hasegawa T, Narumi S.
- Journal Title
  
  J Clin Endocrinol Metab.
  
  Volume: 106 Issue: 1 Pages: e265-e272
- DOI
  10.1210/clinem/dgaa772
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K22607
[Journal Article] Clinical and Immunological Analyses of Ten Patients with MIRAGE Syndrome.2021
- Author(s)
  Mitsui-Sekinaka K, Narumi S, Sekinaka Y, Uematsu K, Yoshida Y, Amano N, Shima H, Hasegawa T, Nonoyama S.
- Journal Title
  
  J Clin Immunol.
  
  Volume: 41 Issue: 3 Pages: 709-711
- DOI
  10.1007/s10875-020-00964-7
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H03627, KAKENHI-PROJECT-20H03652, KAKENHI-PROJECT-18K08527, KAKENHI-PROJECT-20K22916, KAKENHI-PROJECT-20K16942
[Journal Article] Role of liquid-liquid separation in endocrine and living cells.2021
- Author(s)
  Akiba K, Katoh-Fukui Y, Yoshida K, Narumi S, Miyado M, Hasegawa Y and Fukami M.
- Journal Title
  
  Journal of the Endocrine Society
  
  Volume: 5 Issue: 10
- DOI
  10.1210/jendso/bvab126
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K09682, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-19H03627, KAKENHI-PROJECT-21K18298, KAKENHI-PROJECT-21K19283
[Journal Article] Phase separation and toxicity of C9orf72 poly(PR) depends on alternate distribution of arginine.2021
- Author(s)
  Chen C, Yamanaka Y, Ueda K, Li P, Miyagi T, Harada Y, Tezuka S, Narumi S, Sugimoto M, Kuroda M, Hayamizu Y, Kanekura K.
- Journal Title
  
  J Cell Biol.
  
  Volume: 220 Issue: 11
- DOI
  10.1083/jcb.202103160
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H03627, KAKENHI-PROJECT-20H03593, KAKENHI-PROJECT-21H02706, KAKENHI-PLANNED-20H05743
[Journal Article] Congenital Hypothyroidism Due to Truncating PAX8 Mutations: A Case Series and Molecular Function Studies2020
- Author(s)
  Iwahashi-Odano Megumi、Nagasaki Keisuke、Fukami Maki、Nishioka Junko、Yatsuga Shuichi、Asakura Yumi、Adachi Masanori、Muroya Koji、Hasegawa Tomonobu、Narumi Satoshi
- Journal Title
  
  The Journal of Clinical Endocrinology & Metabolism
  
  Volume: 105 Issue: 11 Pages: 4055-4065
- DOI
  10.1210/clinem/dgaa584
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K10024, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-19K22607
[Journal Article] Identification and functional characterization of a novel PAX8 mutation (p.His39Pro) causing familial thyroid hypoplasia2020
- Author(s)
 Iwahashi-Odano M, Fujisawa Y, Ogata T, Nakashima S, Muramatsu M, Narumi S.
- Journal Title
 
 Clinical Pediatric Endocrinology
 
 Volume: 29 Issue: 4 Pages: 173-178
- DOI
 10.1297/cpe.29.173
- NAID
 130007922180
- ISSN
 0918-5739, 1347-7358
- Language
 English
- Peer Reviewed / Open Access
- Data Source
 KAKENHI-PROJECT-19K22607
[Journal Article] A girl with MIRAGE syndrome who developed steroid-resistant nephrotic syndrome: a case report.2020
- Author(s)
  Ishiwa S, Kamei K, Tanase-Nakao K, Shibata S, Matsunami K, Takeuchi I, Sato M, Ishikura K, Narumi S.
- Journal Title
  
  BMC Nephrol.
  
  Volume: 12 Issue: 1 Pages: 340-340
- DOI
  10.1186/s12882-020-02011-4
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H03627, KAKENHI-PROJECT-18J21048
[Journal Article] SOX9 is colocalized with paraspeckle protein NONO in cultured murine sertoli cells and features structural characteristics of intrinsically disordered proteins2020
- Author(s)
  Akiba Kazuhisa、Narumi Satoshi、Nishimura Riko、Kato‐Fukui Yuko、Takada Shuji、Hasegawa Yukihiro、Fukami Maki
- Journal Title
  
  Molecular Reproduction and Development
  
  Volume: 87 Issue: 11 Pages: 1124-1125
- DOI
  10.1002/mrd.23425
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-20H00550, KAKENHI-PROJECT-19H03627, KAKENHI-PROJECT-18K06926
[Journal Article] Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 72020
- Author(s)
  Yoshida, M. Tanase-Nakao, K. Shima, H. Shirai, R. Yoshida, K. Osumi, T. Deguchi, T. Mori, M. Arakawa, Y. Takagi, M. Miyamura, T. Sakaguchi, K. Toyoda, H. Ishida, H. Sakata, N. Imamura, T. Kawahara, Y. Morimoto, A. Koike, T. Yagasaki, H. Ito, S. Tomizawa, D. Kiyokawa, N. Narumi, S. Kato, M.
- Journal Title
  
  British Journal of Haematology
  
  Volume: 191 Issue: 5 Pages: 835-843
- DOI
  10.1111/bjh.17006
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03614, KAKENHI-PROJECT-19H03627, KAKENHI-PROJECT-20H03653, KAKENHI-PROJECT-18J21048, KAKENHI-PROJECT-19K22608
[Journal Article] A Novel Homozygous Mutation of Thyroid Peroxidase Gene Abolishes a Disulfide Bond Leading to Congenital Hypothyroidism2020
- Author(s)
  Yakou Fumiyoshi、Suwanai Hirotsugu、Ishikawa Takuya、Itou Mariko、Shikuma Jumpei、Miwa Takashi、Sakai Hiroyuki、Kanekura Kohsuke、Narumi Satoshi、Suzuki Ryo、Odawara Masato
- Journal Title
  
  International Journal of Endocrinology
  
  Volume: 2020 Pages: 1-8
- DOI
  10.1155/2020/9132372
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20H03593, KAKENHI-PROJECT-19K22607
[Journal Article] MIRAGE syndrome with recurrent pneumonia probably associated with gastroesophageal reflux and achalasia: A case report2019
- Author(s)
  Yoshizaki K, Hachiya R, Tomobe Y, Kaku U, Akiba K, Shima H, Narumi S, Hasegawa Y.
- Journal Title
  
  Clinical Pediatric Endocrinology
  
  Volume: 28 Issue: 4 Pages: 147-153
- DOI
  10.1297/cpe.28.147
- NAID
  130007731284
- ISSN
  0918-5739, 1347-7358
- Language
  English
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H03627
[Journal Article] MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene.2019
- Author(s)
  Onuma S, Wada T, Araki R, Wada K, Tanase-Nakao K, Narumi S, Fukui M, Shoji Y, Etani Y, Ida S, Kawai M.
- Journal Title
  
  Hum Genome Var.
  
  Volume: 7 Issue: 1 Pages: 4-4
- DOI
  10.1038/s41439-020-0091-5
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H03627, KAKENHI-PROJECT-18J21048, KAKENHI-PROJECT-17K10092
[Journal Article] Genetics of Congenital Isolated TSH Deficiency: Mutation Screening of the Known Causative Genes and a Literature Review.2019
- Author(s)
  Sugisawa C, Takamizawa T, Abe K, Hasegawa T, Shiga K, Sugawara H, Ohsugi K, Muroya K, Asakura Y, Adachi M, Daitsu T, Numakura C, Koike A, Tsubaki J, Kitsuda K, Matsuura N, Taniyama M, Ishii S, Satoh T, Yamada M, Narumi S.
- Journal Title
  
  J Clin Endocrinol Metab.
  
  Volume: 104 Issue: 12 Pages: 6229-6237
- DOI
  10.1210/jc.2019-00657
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K22607, KAKENHI-PROJECT-17K09855
[Journal Article] MIRAGE症候群　先天性副腎低形成症を主徴とする新たな遺伝子疾患2018
- Author(s)
  鳴海覚志、長谷川奉延
- Journal Title
  
  最新医学
  
  Volume: 73 Pages: 1115-1120
- NAID
  40021652362
- Data Source
  KAKENHI-PROJECT-18K08527
[Journal Article] MIRAGE症候群2018
- Author(s)
  鳴海覚志、長谷川奉延
- Journal Title
  
  周産期医学
  
  Volume: 48 Pages: 1526-1530
- Data Source
  KAKENHI-PROJECT-18K08527
[Journal Article] MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency.2018
- Author(s)
  Shima H, Hayashi M, Tachibana T, Oshiro M, Amano N, Ishii T, Haruna H, Igarashi M, Kon M, Fukuzawa R, Tanaka Y, Fukami M, Hasegawa T, Narumi S.
- Journal Title
  
  PLoS One.
  
  Volume: 13 Issue: 11 Pages: e0206184-e0206184
- DOI
  10.1371/journal.pone.0206184
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K11194, KAKENHI-PROJECT-18K08527, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17J40246, KAKENHI-PROJECT-16K09979
[Journal Article] Homozygous DUOXA2 mutation (p.Tyr138*) in a girl with congenital hypothyroidism and her apparently unaffected brother: Case report and review of the literature2017
- Author(s)
  Chiho Sugisawa, Shinji Higuchi, Masaki Takagi, Yukihiro Hasegawa, Matsuo Taniyama, Kiyomi Abe, Tomonobu Hasegawa, Satoshi Narumi
- Journal Title
  
  Endocrine Journal
  
  Volume: 印刷中
- NAID
  130006026370
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-15K09630
[Journal Article] Mild thyroid peroxidase deficiency caused by TPO mutations with residual activity: Correlation between clinical phenotypes and enzymatic activity2017
- Author(s)
 Narumi S, Fox LA, Fukudome K, Sakaguchi Z, Sugisawa C, Abe K, Kameyama K, Hasegawa T.
- Journal Title
 
 Endocr J
 
 Volume: 64 Issue: 11 Pages: 1087-1097
- DOI
 10.1507/endocrj.EJ17-0194
- NAID
 130006225028
- ISSN
 0918-8959, 1348-4540
- Language
 English
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
 KAKENHI-PROJECT-15K09630
[Journal Article] Homozygous DUOXA2 mutation (p.Tyr138*) in a girl with congenital hypothyroidism and her apparently unaffected brother: Case report and review of the literature2017
- Author(s)
 Sugisawa C, Higuchi S, Takagi M, Hasegawa Y, Taniyama M, Abe K, Hasegawa T, Narumi S.
- Journal Title
 
 Endocr J
 
 Volume: 64 Issue: 8 Pages: 807-812
- DOI
 10.1507/endocrj.EJ16-0564
- NAID
 130006026370
- ISSN
 0918-8959, 1348-4540
- Language
 English
- Peer Reviewed / Open Access
- Data Source
 KAKENHI-PROJECT-15K09630
[Journal Article] Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach2017
- Author(s)
  Abe Kiyomi、Narumi Satoshi、Suwanai Ayuko S.、Adachi Masanori、Muroya Koji、Asakura Yumi、Nagasaki Keisuke、Abe Takayuki、Hasegawa Tomonobu
- Journal Title
  
  European Journal of Endocrinology
  
  Volume: 178 Issue: 2 Pages: 137-144
- DOI
  10.1530/eje-16-1049
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K08564, KAKENHI-PROJECT-15K09630
[Journal Article] SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 72016
- Author(s)
  Narumi S*, et al., Matsumoto N, et al.
- Journal Title
  
  Nat Genet
  
  Volume: 48 Issue: 7 Pages: 792-797
- DOI
  10.1038/ng.3569
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-24591515, KAKENHI-PROJECT-26462714, KAKENHI-PROJECT-15K09599
[Journal Article] SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.2016
- Author(s)
  Narumi S, Amano N, Ishii T, Katsumata N, Hasegawa T, et al
- Journal Title
  
  Nat Genet
  
  Volume: in press
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-15K09599
[Journal Article] TSH resistance revisited [Review]2015
- Author(s)
  Narumi S, Hasegawa T
- Journal Title
  
  Endocr J
  
  Volume: 62 Issue: 5 Pages: 393-398
- DOI
  10.1507/endocrj.EJ15-0131
- NAID
  130005071792
- ISSN
  0918-8959, 1348-4540
- Language
  English
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-24791087
[Journal Article] 機能低下型TSH受容体変異2013
- Author(s)
  鳴海　覚志、長谷川　奉延
- Journal Title
  
  ホルモンと臨床
  
  Volume: 60 Pages: 7-12
- Data Source
  KAKENHI-PROJECT-24791087
[Journal Article] 甲状腺疾患に対する遺伝子検査2013
- Author(s)
  鳴海　覚志、長谷川　奉延
- Journal Title
  
  小児科
  
  Volume: 54 Pages: 1105-1112
- Data Source
  KAKENHI-PROJECT-24791087
[Journal Article] Delayed onset congenital hypothyroidism in a patient with DUOX2 mutations and maternal iodine excess.2013
- Author(s)
  Kasahara T, Narumi S, Okasora K, Takaya R, Tamai H, Hasegawa T
- Journal Title
  
  Am J Med Genet A
  
  Volume: 161A Issue: 1 Pages: 214-217
- DOI
  10.1002/ajmg.a.35693
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591517
[Journal Article] Congenital hypothyroidism caused by a novel mutation of the dual oxidase2 (DUOX2) gene.2013
- Author(s)
  Yoshizawa-Ogasawara A, Ogikubo S, Satoh M, Narumi S, Hasegawa T
- Journal Title
  
  J Pediatr Endor Met
  
  Volume: 26 Issue: 1-2 Pages: 45-52
- DOI
  10.1515/jpem-2012-0082
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591517
[Journal Article] Molecular Basis of Thyroid Dyshormonogenesis : Genetic Screening in Population-Based Japanese Patients2011
- Author(s)
  Narumi S, Muroya K, Asakura Y, Adachi M, Hasegawa T.
- Journal Title
  
  J Clin Endicrinol Metab
  
  Volume: 96 Issue: 11 Pages: E1838-E1842
- DOI
  10.1210/jc.2011-1573
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591517
[Journal Article] Transcription Factor Mutations and Congenital Hypothyroidism : Systematic Genetic Screening of a Population-Based Cohort of Japanese Patients2010
- Author(s)
  Narumi S, et al.
- Journal Title
  
  Journal of Clinical Endocrinology and Metabolism
  
  Volume: 95 Pages: 1981-1985
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21791006
[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, et al.
- Journal Title
  
  Clin Pediatr Endocrinol. 19
  
  Pages: 91-99
- NAID
  10031199615
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21791006
[Journal Article] Transcription-Factor Mutations and Congenital Hypothyroidism : Systematic Genetic Screening of a Population-Based Cohort of Japanese Patients.2010
- Author(s)
  Narumi S, et al.
- Journal Title
  
  J Clin Endocrinol Metab. 95
  
  Pages: 1981-1985
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21791006
[Presentation] 先天性内分泌疾患の分子遺伝学：非コード領域異常に着目して2024
- Author(s)
  鳴海覚志
- Organizer
  第56回近畿小児内分泌研究会
- Invited
- Data Source
  KAKENHI-PROJECT-23K27576
[Presentation] 先天性甲状腺機能低下症の分子遺伝学的研究2024
- Author(s)
  鳴海覚志
- Organizer
  日本小児内分泌学会　第2回北海道地方会
- Invited
- Data Source
  KAKENHI-PROJECT-23K27576
[Presentation] Molecular Genetics of Congenital Hypothyroidism2024
- Author(s)
  Satoshi Narumi
- Organizer
  10th Anniversary Celebration for the NTUCH in 2024 International symposium
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K27576
[Presentation] 15q26.1の非コード領域変化を病因とする先天性甲状腺機能低下症の新規病型の同定2023
- Author(s)
  鳴海覚志ら
- Organizer
  日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-23K27576
[Presentation] 成長障害に関わる内分泌疾患先天性甲状腺機能低下症の分子遺伝学的研究2023
- Author(s)
  鳴海覚志
- Organizer
  第25回愛知小児内分泌カンファレンス
- Invited
- Data Source
  KAKENHI-PROJECT-23K27576
[Presentation] Functional noncoding variants in 15q26.1 cause familial non-autoimmune thyroid abnormalities2023
- Author(s)
  Satoshi Narumi
- Organizer
  Human Genetics Asia 2023
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K27576
[Presentation] 甲状腺疾患の分子遺伝学的基盤2023
- Author(s)
  鳴海覚志
- Organizer
  日本内分泌学会学術総会
- Invited
- Data Source
  KAKENHI-PROJECT-23K27576
[Presentation] Development of a drug screening method for molecular targeted therapy of MIRAGE syndrome.2023
- Author(s)
  Narumi S.
- Organizer
  11th International Meeting of Pediatric Endocrinology.
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03627
[Presentation] Molecular Genetics of Congenital Hypothyroidism2023
- Author(s)
  Satoshi Narumi
- Organizer
  2023 APPES Online Education Series
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K27576
[Presentation] 先天性甲状腺機能低下症の分子遺伝学2023
- Author(s)
  鳴海覚志
- Organizer
  日本マススクリーニング学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-23K27576
[Presentation] 成長障害をきたす全身性疾患MIRAGE症候群の“発見”と“その後の学び”2022
- Author(s)
  鳴海覚志
- Organizer
  東海小児内分泌講演会
- Invited
- Data Source
  KAKENHI-PROJECT-19H03627
[Presentation] MIRAGE症候群とSAMD9変異2022
- Author(s)
  鳴海覚志
- Organizer
  埼玉県立小児医療センター研究会
- Invited
- Data Source
  KAKENHI-PROJECT-19H03627
[Presentation] 成長障害をきたす全身性疾患MIRAGE症候群の発見と見えてきた課題．2022
- Author(s)
  鳴海覚志
- Organizer
  広島小児内分泌講演会
- Invited
- Data Source
  KAKENHI-PROJECT-19H03627
[Presentation] 新世代技術によるタンパク質相互作用解析2021
- Author(s)
  鳴海覚志
- Organizer
  日本内分泌学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-19H03627
[Presentation] 新世代技術によるタンパク質相互作用解析2021
- Author(s)
  鳴海覚志
- Organizer
  第９４回　日本内分泌学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-19K22607
[Presentation] 文献レビューに基づくMIRAGE症候群の臨床的特徴2021
- Author(s)
  中尾佳奈子, 長谷川奉延, 鳴海覚志
- Organizer
  日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-19H03627
[Presentation] たぶん医学系学会で最も詳しいAlphaFoldの解説2021
- Author(s)
  鳴海覚志
- Organizer
  日本小児内分泌学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-19H03627
[Presentation] 成長障害をきたす全身性疾患MIRAGE症候群が教えてくれたこと2021
- Author(s)
  鳴海覚志
- Organizer
  日本小児遺伝学会
- Invited
- Data Source
  KAKENHI-PROJECT-19H03627
[Presentation] 新規ルシフェラーゼ相補アッセイNanoBiTテクノロジーによるPAX8-NKX2-1結合定量系の開発と臨床応用2021
- Author(s)
  小田野めぐみ、鳴海覚志
- Organizer
  第９４回　日本内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-19K22607
[Presentation] TurboIDによるPAX8近接タンパク質の網羅的解析2021
- Author(s)
  中尾佳奈子、小田野めぐみ、秋葉和壽、鳴海覚志
- Organizer
  第９４回　日本内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-19K22607
[Presentation] TurboIDによるPAX8近接タンパク質の網羅的解析2020
- Author(s)
  中尾佳奈子、小田野めぐみ、秋葉和壽、鳴海覚志
- Organizer
  第６３回　日本甲状腺学会学術集会
- Data Source
  KAKENHI-PROJECT-19K22607
[Presentation] MIRAGE2019
- Author(s)
  Narumi S
- Organizer
  Bone Marrow Failure Expert Meeting 2019
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03627
[Presentation] SAMD9分子標的療法に向けた構造解析と治療薬スクリーニング系の開発2019
- Author(s)
  中尾佳奈子、伊原健太郎、三嶋千恵美、新野睦子、白水美香子、鳴海覚志
- Organizer
  第53回日本小児内分泌学会
- Data Source
  KAKENHI-PROJECT-19H03627
[Presentation] 先天性副腎低形成症における遺伝子変異2019
- Author(s)
  鳴海覚志
- Organizer
  日本内分泌病理学会
- Invited
- Data Source
  KAKENHI-PROJECT-19H03627
[Presentation] The Basic Research on the SAMD9 Protein: What, Where and With Whom?2019
- Author(s)
  Narumi S
- Organizer
  Bone Marrow Failure Expert Meeting 2019
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03627
[Presentation] 先天性甲状腺機能低下症の成因：環境、遺伝、相互作用2017
- Author(s)
  鳴海　覚志
- Organizer
  第90回日本内分泌学会学術集会
- Place of Presentation
  京都市
- Invited
- Data Source
  KAKENHI-PROJECT-15K09630
[Presentation] Genetics of Congenital Hypothyroidism: Knowns and Unknowns2017
- Author(s)
  Satoshi Narumi
- Organizer
  日本甲状腺学会
- Invited
- Data Source
  KAKENHI-PROJECT-15K09630
[Presentation] 副腎低形成はMIRAGE症候群の必発徴候ではない：SGA出生46,XY性分化疾患49例におけるSAMD9変異スクリーニング2017
- Author(s)
  島彦仁、林美恵、天野直子、石井智弘、長谷川奉延、立花貴史、大城誠、五十嵐麻希、今雅史、深見真紀、鳴海覚志
- Organizer
  第51回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-15K09599
[Presentation] MIRAGE Syndrome: A New Form of Syndromic Adrenal Hypoplasia Caused by Activating SAMD9 Mutations.2016
- Author(s)
  Narumi S, Amano N, Ishii T, Katsumata N, Fukuzawa R, Shimizu A, Shibata S, Okano H, Miyake N, Matsumoto N, Hasegawa T.
- Organizer
  The Endocrine Society’s 98th Annual Meeting&Expo
- Place of Presentation
  Boston, USA
- Year and Date
  2016-04-01
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09599
[Presentation] MIRAGE Syndrome: A New Adrenal Hypoplasia Syndrome Caused by Heterozygous SAMD9 Mutations.2016
- Author(s)
  Amano N, Narumi S, Ishii T, Katsumata N, Fukuzawa R, Shimizu A, Miyake N, Matsumoto N, Hasegawa T
- Organizer
  The 17th Adrenal Cortex Conference
- Place of Presentation
  Boston (U.S.A.)
- Year and Date
  2016-03-29
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09599
[Presentation] MIRAGE症候群：機能亢進型SAMD9変異を原因とする新規症候群の発見2015
- Author(s)
  鳴海覚志、天野直子、石井智弘、勝又規行、福澤龍二、芝田晋介、岡野栄之、清水厚志、三宅紀子、松本直通、長谷川奉延
- 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（東京都新宿区）
- Year and Date
  2015-10-14
- Data Source
  KAKENHI-PROJECT-15K09599
[Presentation] MIRAGE症候群の分子病態2015
- Author(s)
  鳴海覚志、天野直子、石井智弘、柴田晋介、岡野栄之、長谷川奉延
- Organizer
  第49回日本小児内分泌学会学術集会
- Place of Presentation
  タワーホール船堀（東京江戸川区）
- Year and Date
  2015-10-08
- Data Source
  KAKENHI-PROJECT-15K09599
[Presentation] MIRAGE症候群：機能亢進型SAMD9変異を原因とする新規症候群の発見2015
- Author(s)
  鳴海覚志、天野直子、石井智弘、勝又規行、福澤龍二、清水厚志、三宅紀子、松本直道、長谷川奉延
- Organizer
  第25回臨床内分泌代謝Update
- Place of Presentation
  東京国際フォーラム（東京都千代田区）
- Year and Date
  2015-11-28
- Data Source
  KAKENHI-PROJECT-15K09599
[Presentation] MIRAGE症候群：副腎低形成を伴う新規症候群の疾患概念の確立と責任遺伝子の同定2015
- Author(s)
  天野直子、鳴海覚志、石井智弘、勝又規行、福澤龍二、清水厚志、三宅紀子、松本直通、長谷川奉延
- Organizer
  第49回日本小児内分泌学会学術集会
- Place of Presentation
  タワーホール船堀（東京江戸川区）
- Year and Date
  2015-10-08
- Data Source
  KAKENHI-PROJECT-15K09599
[Presentation] 変異TSH受容体V711FfsX18の機能解析 1塩基欠失によるたんぱく質不安定化シグナルの獲得2014
- Author(s)
  鳴海覚志、杉澤千穂、阿部清美、長谷川奉延
- Organizer
  日本小児内分泌学会
- Place of Presentation
  浜松
- Year and Date
  2014-09-25
- Data Source
  KAKENHI-PROJECT-24791087
[Presentation] Functional Characterization of a Novel Mutant TSH Receptor (V711FfsX18): Acquisition of a Degradation Signal via a Single-Base Deletion2014
- Author(s)
  Narumi S, Sugisawa C, Abe K, Hasegawa T
- Organizer
  日本小児内分泌学会
- Place of Presentation
  浜松
- Year and Date
  2014-09-27
- Data Source
  KAKENHI-PROJECT-24791087
[Presentation] 変異TSH受容体V711FfsX18の機能解析 1塩基欠失によるたんぱく質不安定化シグナルの獲得2014
- Author(s)
  鳴海覚志、杉澤千穂、阿部清美、長谷川奉延
- Organizer
  日本甲状腺学会
- Place of Presentation
  大阪
- Year and Date
  2014-11-15
- Data Source
  KAKENHI-PROJECT-24791087
[Presentation] 遺伝性甲状腺ホルモン合成障害を初診時に予測できる:ROC解析によるカットオフ値の提唱2013
- Author(s)
  阿部清美、鳴海覚志、天野直子、石井智弘、室谷浩二、朝倉由美、安達昌功、長崎啓祐、阿部貴行、長谷川奉延
- Organizer
  第47回日本小児内分泌学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] Monoallelic mutations in TSHR and DUOX2 do not act as single Mendelian factors but as risk factors for congenital hypothyroidism : Pathway burden hypothesis2013
- Author(s)
  Abe K. Narumi S, Amano N, Ishii T, Muroya K, Asakura Y, Adachi M, Sasaki G, Nagasaki K, Abe T, Hasegawa T.
- Organizer
  9th Joint Meeting of Paediatric Endocrinology ESPE–PES–APEG–APPES–ASPAE–JSPE–SLEP
- Place of Presentation
  Milan,Italy
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 従来法vs次世代法:先天性甲状腺機能低下症における遺伝子診断アプローチの精度比較2013
- Author(s)
  鳴海覚志、阿部清美、室谷浩二、朝倉由美、安達昌功、長谷川奉延
- Organizer
  第47回日本小児内分泌学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] A study of iodine organization in transient hypothyroidism with biallelic DUOX2 mutations : organization defect is not an invariable feature2013
- Author(s)
  Nagasaki K, Narumi S, Abe K, Asami T, Sato H, Ogawa Y, Kikuchi T, Hasegawa T, Saitoh A.
- Organizer
  9th Joint Meeting of Paediatric Endocrinology ESPE–PES–APEG–APPES–ASPAE–JSPE–SLEP
- Place of Presentation
  Milan, Italy
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] Monoallelic mutations in TSHR and DUOX2 do not act as single Mendelian factors but as risk factors for congenital hypothyroidism: Pathway burden hypothesis.2013
- Author(s)
  Abe K. Narumi S, Amano N, Ishii T, Muroya K, Asakura Y, Adachi M, Sasaki G, Nagasaki K, Abe T, Hasegawa T
- Organizer
  9th Joint Meeting of Paediatric Endocrinology ESPE-PES-APEG-APPES-ASPAE-JSPE-SLEP
- Place of Presentation
  Milan, Italy
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 遺伝性甲状腺ホルモン合成障害を初診時に予測できる：ROC解析によるカットオフ値の提唱2013
- Author(s)
  阿部清美、鳴海覚志、天野直子、石井智弘、室谷浩二、朝倉由美、安達昌功、長崎啓祐、阿部貴行、長谷川奉延
- Organizer
  第47回日本小児内分泌学会学術集会
- Place of Presentation
  浅草ビューホテル（東京都台東区）
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 従来法vs次世代法：先天性甲状腺機能低下症における遺伝子診断アプローチの精度比較2013
- Author(s)
  鳴海覚志、阿部清美、室谷浩二、朝倉由美、安達昌功、長谷川奉延
- Organizer
  第47回日本小児内分泌学会学術集会
- Place of Presentation
  浅草ビューホテル（東京都台東区）
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 新生児マススクリーニングで発見されなかった先天性甲状腺機能低下症の3例2013
- Author(s)
  上村美季、鳴海覚志、梅木郁美、箱田明子、菅野潤子、長谷川奉延、藤原幾磨
- Organizer
  第47回日本小児内分泌学会学術集会
- Place of Presentation
  浅草ビューホテル（東京都台東区）
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] Levothyroxine内服量の経時的変化からみたDUOX2遺伝子異常とTSHR遺伝子異常との相違2013
- Author(s)
  木戸佑二、室谷浩二、阿部清美、飯島弘之、花川純子、朝倉由美、鳴海覚志、長谷川奉延、安達昌功
- Organizer
  第47回日本小児内分泌学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 橋本病母体より出生し、新生児マススクリーニングは正常判定であったDUOX2異常症の1例2013
- Author(s)
  河口亜津彩、本庄紗帆、母坪智行、星野恵美子、黒岩由紀、布施茂登、森俊彦、横田美紀、阿部清美、鳴海覚志、長谷川奉延
- Organizer
  第47回日本小児内分泌学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 橋本病母体より出生し、新生児マススクリーニングは正常判定であったDUOX2異常症の1例2013
- Author(s)
  河口亜津彩、本庄紗帆、母坪智行、星野恵美子、黒岩由紀、布施茂登、森俊彦、横田美紀、阿部清美、鳴海覚志、長谷川奉延
- Organizer
  第47回日本小児内分泌学会学術集会
- Place of Presentation
  浅草ビューホテル（東京都台東区）
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] Levothyroxine内服量の経時的変化からみたDUOX2遺伝子異常とTSHR遺伝子異常との相違2013
- Author(s)
  木戸佑二、室谷浩二、阿部清美、飯島弘之、花川純子、朝倉由美、鳴海覚志、長谷川奉延、安達昌功
- Organizer
  第47回日本小児内分泌学会学術集会
- Place of Presentation
  浅草ビューホテル（東京都台東区）
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 新生児マススクリーニングで発見されなかった先天性甲状腺機能低下症の3例2013
- Author(s)
  上村美季、鳴海覚志、梅木郁美、箱田明子、菅野潤子、長谷川奉延、藤原幾磨
- Organizer
  第47回日本小児内分泌学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] A study of iodine organization in transient hypothyroidism with biallelic DUOX2 mutations: organization defect is not an invariable feature.2013
- Author(s)
  Nagasaki K, Narumi S, Abe K, Asami T, Sato H, Ogawa Y, Kikuchi T, Hasegawa T, Saitoh A
- Organizer
  9th Joint Meeting of Paediatric Endocrinology ESPE-PES-APEG-APPES-ASPAE-JSPE-SLEP
- Place of Presentation
  Milan, Italy
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 次世代シーケンシングによる先天性甲状腺機能低下症の包括的遺伝子解析2012
- Author(s)
  鳴海覚志、阿部清美、天野直子、石井智弘、長谷川奉延
- Organizer
  第55回日本甲状腺学会
- Place of Presentation
  福岡
- Year and Date
  2012-11-30
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 先天性甲状腺機能低下症発症におけるPathway Burden仮説の提唱2012
- Author(s)
  阿部清美、鳴海覚志、天野直子、石井智弘、室谷浩二、朝倉由美、安達昌功、佐々木悟郎、長崎啓祐、阿部貴行、長谷川奉延
- Organizer
  第55回日本甲状腺学会
- Place of Presentation
  福岡
- Year and Date
  2012-11-30
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 先天性甲状腺機能低下症発症におけるPathway Burden仮説の提唱2012
- Author(s)
  阿部清美、鳴海覚志、天野直子、石井智弘、室谷浩二、朝倉由美、安達昌功、佐々木悟郎、長崎啓祐、阿部貴行、長谷川奉延
- Organizer
  第46回日本小児内分泌学会学術集会
- Place of Presentation
  大阪
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 両アレル性DUOX2変異例におけるヨード有機化能の検討2012
- Author(s)
  長崎啓祐、鳴海覚志、阿部清美、佐藤英利、小川洋平、浅見直、長谷川奉延、菊池透
- Organizer
  第55回日本甲状腺学会
- Place of Presentation
  福岡
- Year and Date
  2012-11-30
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 先天性甲状腺機能低下症発症におけるPathway Burden仮説の提唱2012
- Author(s)
  阿部清美、鳴海覚志、天野直子、石井智弘、室谷浩二、朝倉由美、安達昌功、佐々木悟郎、長崎啓祐、阿部貴行、長谷川奉延
- Organizer
  第46回日本小児内分泌学会学術集会
- Place of Presentation
  大阪国際会議場
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 新生児マス・スクリーニングでは発見されなかった複合ヘテロ接合性DUOX2変異の一女児例2011
- Author(s)
  笠原俊彦、鳴海覚志、岡空圭輔、高谷竜三、長谷川奉延、玉井浩
- Organizer
  第54回日本甲状腺学会
- Place of Presentation
  名古屋
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 新生児マス・スクリーニング陰性であった両アレル性DUOX2変異による一過性先天性甲状腺機能低下症の一例2011
- Author(s)
  笠原俊彦、鳴海覚志、岡空圭輔、高谷竜三、長谷川奉延、玉井浩
- Organizer
  第45回日本小児内分泌学会学術集会
- Place of Presentation
  大宮(ポスター)
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] DUOX2変異による偽性優性遺伝を示した先天性甲状腺機能低下症の一家系2011
- Author(s)
  阿部清美、濱島崇、鳴海覚志、長谷川奉延
- Organizer
  第54回日本甲状腺学会学術集会
- Place of Presentation
  大阪国際交流センター（大阪）
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 両アレル性DUOX2変異による一過性先天性甲状腺機能低下症の1家系2011
- Author(s)
  滝沢文彦、小野真、松原洋平、高澤啓、保坂篤人、鳴海覚志、阿部清美、長谷川奉延、鹿島田健一、水谷修紀
- Organizer
  第45回日本小児内分泌学会学術集会
- Place of Presentation
  大宮ソニックシティ（埼玉）
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 新生児マス・スクリーニング陰性であった両アレル性DUOX2変異による一過性先天性甲状腺機能低下症の一例2011
- Author(s)
  笠原俊彦、鳴海覚志、岡空圭輔、高谷竜三、長谷川奉延、玉井浩
- Organizer
  第45回日本小児内分泌学会学術集会
- Place of Presentation
  大宮ソニックシティ（埼玉）
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] DUOX2変異による偽性優性遺伝を示した先天性甲状腺機能低下症の一家系2011
- Author(s)
  阿部清美、濱島崇、鳴海覚志、長谷川奉延
- Organizer
  第45回日本小児内分泌学会学術集会
- Place of Presentation
  大宮
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] DUOX2変異による偽性優性遺伝を示した先天性甲状腺機能低下症の一家系2011
- Author(s)
  阿部清美、濱島崇、鳴海覚志、長谷川奉延
- Organizer
  第54回日本甲状腺学会
- Place of Presentation
  名古屋
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] DUOX2変異による偽性優性遺伝を示した先天性甲状腺機能低下症の一家系2011
- Author(s)
  阿部清美、濱島崇、鳴海覚志、長谷川奉延
- Organizer
  第45回日本小児内分泌学会学術集会
- Place of Presentation
  大宮ソニックシティ（埼玉）
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 新生児マス・スクリーニングでは発見されなかった複合ヘテロ接合性DUOX2変異の一女児例2011
- Author(s)
  笠原俊彦、鳴海覚志、岡空圭輔、高谷竜三、長谷川奉延、玉井浩
- Organizer
  第54回日本甲状腺学会学術集会
- Place of Presentation
  大阪国際交流センター（大阪）
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 両アレル性DUOX2変異による一過性先天性甲状腺機能低下症の1家系2011
- Author(s)
  滝沢文彦、小野真、松原洋平、高澤啓、保坂篤人、鳴海覚志、阿部清美、長谷川奉延、鹿島田健一、水谷修紀
- Organizer
  第45回日本小児内分泌学会学術集会
- Place of Presentation
  大宮
- Data Source
  KAKENHI-PROJECT-23591517
[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, ほか
- Organizer
  日本小児内分泌学会
- Place of Presentation
  大阪
- Year and Date
  2010-10-08
- Data Source
  KAKENHI-PROJECT-21791006
[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
- Organizer
  第53回日本甲状腺学会学術集会
- Place of Presentation
  長崎ブリックホール
- Year and Date
  2010-11-12
- Data Source
  KAKENHI-PROJECT-21791006
[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, ほか
- Organizer
  日本甲状腺学会
- Place of Presentation
  長崎
- Year and Date
  2010-11-12
- Data Source
  KAKENHI-PROJECT-21791006
[Presentation] 先天性甲状腺機能低下症発症におけるPathway Burden仮説の提唱
- Author(s)
  阿部清美、鳴海覚志、天野直子、石井智弘、室谷浩二、朝倉由美、安達昌功、佐々木悟郎、長崎啓祐、阿部貴行、長谷川奉延
- Organizer
  第55回日本甲状腺学会
- Place of Presentation
  アクロス福岡
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 両アレル性DUOX2変異例におけるヨード有機化能の検討
- Author(s)
  長崎啓祐、鳴海覚志、阿部清美、佐藤英利、小川洋平、浅見直、長谷川奉延、菊池透
- Organizer
  第55回日本甲状腺学会
- Place of Presentation
  アクロス福岡
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 次世代シーケンシングによる先天性甲状腺機能低下症の包括的遺伝子解析
- Author(s)
  鳴海覚志、阿部清美、天野直子、石井智弘、長谷川奉延
- Organizer
  第55回日本甲状腺学会
- Place of Presentation
  アクロス福岡
- Data Source
  KAKENHI-PROJECT-23591517

1. HASEGAWA TOMONOBU (20189533)

# of Collaborated Projects: 5 results

# of Collaborated Products: 45 results
2. 石井智弘 (70265867)

# of Collaborated Projects: 3 results

# of Collaborated Products: 8 results
3. 天野直子 (70348689)

# of Collaborated Projects: 3 results

# of Collaborated Products: 8 results
4. 高田修治 (20382856)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
5. SUWANAI Ayuko (90383851)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
6. Ito Takashi (90201326)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
7. Takeuchi Ichiro (30790000)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
8. 木下政人 (60263125)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
9. 金蔵孝介 (10508568)

# of Collaborated Projects: 1 results

# of Collaborated Products: 3 results
10. 伊原健太郎 (90647207)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
11. 阿久津英憲 (50347225)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
12. 秦健一郎 (60360335)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
13. 石黒精 (90222984)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
14. 平林真介 (50769635)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
15. 真部淳 (20292849)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
16. 三谷絹子 (50251244)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
17. 小野澤真弘 (70455632)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
18. 有安大典 (60338100)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
19. 荒木喜美 (90211705)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
20. 才津浩智 (40402838)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
21. FUKAMI Maki

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
22. 長崎啓祐

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
23. 宮戸真美

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
24. 高木正稔

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
25. 五十嵐麻希

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
26. 松本直通

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
27. 阿部貴行

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Narumi Satoshi 鳴海 覚志

NARUMI Satoshi 鳴海 覚志

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Genomic investigation on congenital endocrine disorders with a focus on non-coding regions.Principal Investigator

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Dissecting transcription factors using proximity labeling analysesPrincipal Investigator

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Functional, structural and pathological analysis of SAMD9/SAMD9L, liquid-liquid phase separation-related moleculesPrincipal Investigator

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Methylome Analysis of Thyroid DysgenesisPrincipal Investigator

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Functional characterization of a novel TSH receptor mutation (V711fs) with protein instabilityPrincipal Investigator

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Copy Number Variation as a Cause of Thyroid dysgenesisPrincipal Investigator

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Narumi Satoshi 鳴海覚志

NARUMI Satoshi 鳴海覚志