KATSUMATA Noriyuki 勝又規行

… Alternative Names

KATSUMATA NORIYUKI 勝又規行

勝又規行カツマタノリユキ

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Researcher Number	10260340
Other IDs
Affiliation (Current)	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, 室長
Affiliation (based on the past Project Information) *help	2021: 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, 研究員 2016 – 2021: 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 2017 – 2020: 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, 上級研究員 2015: 国立研究開発法人国立成育医療研究センター, その他部局等, その他 2015: 独立行政法人国立成育医療研究センター研究所, 基礎内分泌研究室, 室長 … More 2012 – 2014: 独立行政法人国立成育医療研究センター, その他部局等, その他 2013: 独立行政法人国立成育医療研究センター, その他部局等, 研究室長 2013: 独立行政法人国立成育医療研究センター, 分子内分布研究部, 研究室長 2013: 独立行政法人国立成育医療研究センター研究所, 基礎内分泌研究室 2011: 独立行政法人国立成育医療研究センター, 基礎内分泌研究室, 室長 2010 – 2011: 独立行政法人国立成育医療研究センター, 分子内分泌研究部, 室長 2008: 国立成育医療センター(研究所), 小児思春期発育研究部, 室長 2008: 国立成育医療センター研究所, 小児思春期発育研究部, 室長 2006 – 2007: 国立成育医療センター研究所, 室長 2005: 国立成育医療センター(研究所), 室長 2004: 国立成育医療センター研究所, 室長 2001: 国立小児病院, (小児医療研究センター), 室長 1998 – 1999: 国立小児病院, 小児医療研究センター・内分泌代謝研究部・代謝研究室長 1996: 国立小児病院, 小児医療研究センター・内分泌代謝研究部・代謝研究室長 Less
Review Section/Research Field	Principal Investigator Pediatrics / Endocrinology / 内分泌・代謝学 Except Principal Investigator Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related / Pediatrics / Biological Sciences
Keywords	Principal Investigator ステロイドホルモン / 遺伝子 / 分子内分泌学 / 遺伝学 / CLPP遺伝子 / RNA-Seq / GPX4遺伝子 / GSR遺伝子 / NNT遺伝子 / ミトコンドリア電子伝達系 … More / 先天性ACTH不応症 / 先天性副腎低形成症 / Mutation / Gene / Congenital Lipoid Adrenal Hyperplasia / Steroidogenic Acute Regulatory Protein (StAR) / Biosynthesis / Steroid Hormone / Steroidogenic Acute Regulatory Proein(StAR) / 変異 / 先天性副腎リポイド過形成症 / Steroidogenic Acute Regulatory Protein(StAR) / 生合成 / 内分泌学 / 膵内分泌細胞 / PAP / Peptide 23 … More Except Principal Investigator 21水酸化酵素欠損症 / 遺伝子治療 / 11β水酸化酵素欠損症 / アデノウィルス随伴ウィルスベクター / ips細胞 / 先天性副腎皮質過形成 / 先天性副腎皮質過形成症 / SNP / SHOX / 副腎皮質過形成症 / アデノウィルス関連ウィルスベクター / SF1 / CYP11B1 / CYP21A2 / iPS細胞 / LYMPHOEDEMA / GONADAL FUNCTION / SHORT STATURE / TURNER SKELETAL FEATURES / HAPLOINSUFFICIENCY / SEX CHROMOSOME / X染色体短腕欠失 / 量効果 / Langer type skeletal dysplasia / dyscondrosteosis / 下肢長比 / 座高 / 成長パターン / リンパ浮腫 / 性腺機能 / 特発性低身長 / ターナー骨格徴候 / 半量不全 / 性染色体 / ES細胞 / ウィルスベクター / 小児内分泌 / 線維芽細胞 / レトロウィルスベクター / 副腎皮質過形成 / POR / Ad4BP / Nothシグナル伝達経路 / エストロゲン受容体α遺伝子 / Notchシグナル伝達経路 / 新規性分化異常症責任遺伝子 / 精巣形成不全 / 内分泌撹乱物質 / ヒト遺伝疾患 / 多因子疾患 / 単一遺伝子疾患 / 性分化異常症 Less

Development of gene therapy for congenital adrenal hyperplasia using AAV vectors and iPS cells
- Principal Investigator
  
  Naiki Yasuhiro
- Project Period (FY)
  2019 – 2021
- 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
Exploration of novel causative genes for adrenal hypoplasia congenital and familial isolated glucocorticoid deficiencyPrincipal Investigator
- Principal Investigator
  
  KATSUMATA NORIYUKI
- Project Period (FY)
  2017 – 2021
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  National Center for Child Health and Development
Development of gene therapy for congenital adrenal hyperplasia using AAV vectors and iPS cells
- Principal Investigator
  
  Naiki Yasuhiro
- Project Period (FY)
  2016 – 2018
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  National Center for Child Health and Development
Extra-Adrenal Induction of Cyp21a1 Ameliorates Systemic Steroid Metabolism in a Mouse Model of Congenital Adrenal Hyperplasia
- Principal Investigator
  
  Naiki Yasuhiro
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  National Center for Child Health and Development
Search for novel genes causing congenital lipoid adrenal hyperplasiaPrincipal Investigator
- Principal Investigator
  
  KATSUMATA NORIYUKI
- Project Period (FY)
  2011 – 2013
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  National Research Institute for Child Health and Development
Extra-adrenal expression of Cyp21a1 for gene therapy of congenital adrenal hyperplasia
- Principal Investigator
  
  NAIKI Yasuhiro
- Project Period (FY)
  2010 – 2012
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  National Research Institute for Child Health and Development
Comprehensive mutation and susceptibility analyses and its clinical application in disorders of sex development and reproductive dysfunction
- Principal Investigator
  
  OGATA Tsutomu
- Project Period (FY)
  2004 – 2008
- Research Category
  
  Grant-in-Aid for Scientific Research on Priority Areas
- Review Section
  
  Biological Sciences
- Research Institution
  National Research Institute for Child Health and Development
CLARIFICATION OF CLINICAL ROLE AND GROWTH REGULATION MECHANISM OF THE SHOX GENE ON THE HUMAN PSEUDOAUTOSOMAL REGION
- Principal Investigator
  
  MATSUO Nobutake
- Project Period (FY)
  2000 – 2002
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT
  Keio University
RESEARCH ON CONTROL OF STEROID HORMONE BIOSYNTHESISPrincipal Investigator
- Principal Investigator
  
  KATSUMATA Noriyuki
- Project Period (FY)
  1998 – 1999
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Endocrinology
- Research Institution
  NATIONAL CHILDREN'S HOSPITAL
マウスPeptide 23/PAPファミリーのゲノムDNAのクローニングPrincipal Investigator
- Principal Investigator
  
  勝又規行
- Project Period (FY)
  1996
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  内分泌・代謝学
- Research Institution
  National Research Institute for Child Health and Development

All 2021 2020 2019 2018 2017 2016 2014 2013 2012 2011 2010 2008 2004

All Journal Article Presentation Book

[Book] 先天性副腎リポイド過形成症(Prader病).症候群ハンドブック初版(井村裕夫編)2011
- Author(s)
  勝又規行(東京)
- Total Pages
  439
- Publisher
  中山書店
- Data Source
  KAKENHI-PROJECT-23591523
[Book] 先天性副腎リポイド過形成症（Prader病）. 症候群ハンドブック　初版（井村裕夫編）2011
- Author(s)
  勝又規行
- Total Pages
  39
- Publisher
  中山書店
- Data Source
  KAKENHI-PROJECT-23591523
[Journal Article] Clinical features of 57 patients with lipoid congenital adrenal hyperplasia: Criteria for nonclassic form revisited2020
- Author(s)
  Ishii T, Tajima T, Kashimada K, Mukai T, Tanahashi Y, Katsumata N, Kanno J, Hamajima T, Miyako K, Ida S, Hasegawa T
- Journal Title
  
  J Clin Endocrinol Metab
  
  Volume: 105 Issue: 11 Pages: 1870-1879
- DOI
  10.1210/clinem/dgaa557
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10091, KAKENHI-PROJECT-19K08987
[Journal Article] 副腎皮質刺激ホルモン(ACTH)不応症2019
- Author(s)
  勝又規行
- Journal Title
  
  新薬と臨床
  
  Volume: 68 Pages: 385-388
- Data Source
  KAKENHI-PROJECT-17K10091
[Journal Article] Pubertal and adult testicular functions in nonclassic lipoid congenital adrenal hyperplasia: a case series and review2019
- Author(s)
  Tomohiro Ishii, Naoaki Hori, Naoko Amano, Misaki Aya, Hirotaka Shibata, Noriyuki Katsumata, Tomonobu Hasegawa
- Journal Title
  
  J Endocr Soc
  
  Volume: 3 (7) Issue: 7 Pages: 1367-1376
- DOI
  10.1210/js.2019-00086
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K10091, KAKENHI-PROJECT-19K08987
[Journal Article] 小児2019
- Author(s)
  福岡智哉, 三善陽子, 大沼真輔, 和田珠希, 里村宜紀, 安田紀恵, 山本景子, 木村武司, 橘真紀子, 別所一彦, 山本威久, 勝又規行, 大薗恵一
- Journal Title
  
  Folia Endocrinologica Japonica
  
  Volume: 95 Issue: S.Update Pages: 128-137
- DOI
  10.1507/endocrine.95.S.Update_128
- NAID
  130007679906
- ISSN
  0029-0661, 2186-506X
- Year and Date
  2019-06-20
- Language
  Japanese
- Open Access
- Data Source
  KAKENHI-PROJECT-17K10091
[Journal Article] Extra-adrenal induction of <i>Cyp21a1</i> ameliorates systemic steroid metabolism in a mouse model of congenital adrenal hyperplasia2016
- Author(s)
  Naiki Y, Miyado M, Horikawa R, Katsumata N, Onodera M, Pang S, Ogata T and Fukami M.
- Journal Title
  
  Endocr J
  
  Volume: 63 Issue: 10 Pages: 897-904
- DOI
  10.1507/endocrj.EJ16-0112
- NAID
  130005267899
- ISSN
  0918-8959, 1348-4540
- Language
  English
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K08603, KAKENHI-PROJECT-16K10005
[Journal Article] Prognosis of primary aldosteronism in Japan: results from a nationwide epidemiological study2014
- Author(s)
  Miyake Y, Tanaka K, Nishikawa T, Naruse M, Takayanagi R, Sasano H, Takeda Y, Shibata H, Sone M, Satoh F, Yamada M, Ueshiba H, Katabami T, Iwasaki Y, Tanaka H, Tanahashi Y, Suzuki S, Hasegawa T, Katsumata N, Tajima T, Toshihiko Yanase T
- Journal Title
  
  Endocr J
  
  Volume: 61 Issue: 1 Pages: 35-40
- DOI
  10.1507/endocrj.EJ13-0353
- NAID
  130004443933
- ISSN
  0918-8959, 1348-4540
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591523
[Journal Article] Two novel HSD3B2 missense mutations with diverse residual enzymatic activities forΔ5-steroids2014
- Author(s)
  Takasawa K, Ono M, Hijikata A, Matsubara Y, Katsumata N, Takagi M, Morio T, Ohara O, Kashimada K, Mizutani S.
- Journal Title
  
  Clin Endocrinol (Oxf)
  
  Volume: 80(6) Issue: 6 Pages: 782-789
- DOI
  10.1111/cen.12394
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591523
[Journal Article] Third-generation Aromatase Inhibitor Improved Adult Height in a Japanese Boy with Testotoxicosis2014
- Author(s)
  Yoshizawa-Ogasawara A, Katsumata N, Horikawa R, Satoh M, Urakami T, Tanaka T.
- Journal Title
  
  Clinical Pediatric Endocrinology
  
  Volume: 23 Issue: 2 Pages: 53-58
- DOI
  10.1297/cpe.23.53
- NAID
  130004853602
- ISSN
  0918-5739, 1347-7358
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591523
[Journal Article] Uniparental disomy of chromosome 8 leading to homozygosity of a <i>CYP11B1</i> mutation in a patient with congenital adrenal hyperplasia: Implication for a rare etiology of an autosomal recessive disorder2014
- Author(s)
  K. Matsubara, N. Kataoka, S. Ogita, S. Sano, T. Ogata, M. Fukami and N. Katsumata
- Journal Title
  
  Endocr J
  
  Volume: 61 Issue: 6 Pages: 629-633
- DOI
  10.1507/endocrj.EJ13-0509
- NAID
  130004770452
- ISSN
  0918-8959, 1348-4540
- Language
  English
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23591523, KAKENHI-PROJECT-25860898
[Journal Article] Triple A syndrome in Japan2013
- Author(s)
  Ikeda M, Hirano M, Shinoda K, Katsumata N, Furutama D, Nakamura K, Ikeda S, Tanaka T, Hanafusa T, Kitajima H, Kohno H, Nakagawa M, Nakamura Y, Ueno S.
- Journal Title
  
  Muscle Nerve
  
  Volume: 48(3) Issue: 3 Pages: 381-386
- DOI
  10.1002/mus.23770
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591523
[Journal Article] A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency2013
- Author(s)
  R. Yamaguchi, F. Kato, T. Hasegawa, N. Katsumata, M. Fukami, T. Matsui, K. Nagasaki, T. Ogata.
- Journal Title
  
  Endocr J
  
  Volume: 60 Issue: 7 Pages: 855-859
- DOI
  10.1507/endocrj.EJ13-0024
- NAID
  10031195753
- ISSN
  0918-8959, 1348-4540
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23591523
[Journal Article] Human glutathione S-transferase A (GSTA) family genes are regulated by steroidogenic factor 1 (SF-1) and are involved in steroidogenesis.2013
- Author(s)
  Matsumura T, Imamichi Y, Mizutani T, Ju Y, Yazawa T, Kawabe S, Kanno M, Ayabe T, Katsumata N, Fukami M, Inatani M, Akagi Y, Umezawa A, Ogata T, Miyamoto K
- Journal Title
  
  FASEB J
  
  Volume: 27 Issue: 8 Pages: 3198-3208
- DOI
  10.1096/fj.12-222745
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23390249, KAKENHI-PROJECT-23590329, KAKENHI-PROJECT-23591523, KAKENHI-PROJECT-24390395, KAKENHI-PROJECT-24590347, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25670173, KAKENHI-PROJECT-25670440, KAKENHI-PROJECT-25861481, KAKENHI-PROJECT-25861482
[Journal Article] Genetic defects in pregnenolone synthesis2012
- Author(s)
  Katsumata N.
- Journal Title
  
  Pediatr Endocrinol Rev
  
  Volume: 10(Suppl 1) Pages: 98-109
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591523
[Journal Article] Genetic defects in pregnenolone synthesis.2012
- Author(s)
  Katsumata N
- Journal Title
  
  Pediatr Endocrinol Rev
  
  Volume: 10(Suppl 1) Pages: 98-109
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591523
[Journal Article] A case of Allgrove syndrome with a novel IVS7+1G>A mutation of the AAAS gene.2012
- Author(s)
  Ikemoto S, Sakurai K, Kuwashima N, Saito Y, Miyata I, Katsumata N, Ida H
- Journal Title
  
  Clin Pediatr Endocrinool
  
  Volume: 21 Pages: 11-13
- NAID
  10031199636
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591523
[Journal Article] Familial glucocorticoid deficiency in five Arab kindreds with homozygous point mutations of the ACTH receptor (MC2R): genotype and phenotype correlations.2011
- Author(s)
  al Kandari H, Katsumata N, al Alwan I, al Balwi M, Rasoul MA
- Journal Title
  
  Horm Res Paediatr
  
  Volume: 76 Pages: 165-171
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591523
[Journal Article] Novel intronic CYP21A2 mutation in Japanese patient with classic salt-wasting steroid 21-hydroxylase deficiency2010
- Author(s)
  Noriyuki Katsumata
- Journal Title
  
  Metabolism
  
  Volume: 59 Pages: 1628-1632
- Data Source
  KAKENHI-PROJECT-22591148
[Journal Article] CXorf6(MAMR1:mastemind-related1)transactivates the Hes3 promoter,augments testosterone production,and contains the target sequence for SF-12008
- Author(s)
  Fukami M, Wada Y, Okada M, Kato F, Katsumata N, Baba T, Morohashi K, Lapgrtc J, Kitagawa M, Ogata T
- Journal Title
  
  Journal of Biological Chemistry 283(9)
  
  Pages: 5525-5532
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] CXorf6(MAMR1:mastermind-related 1) transactivates the Hes3 promoter, augments testosterone production, and contains the target sequence for SF-12008
- Author(s)
  Fukami M, Wada Y, Okada M, Kato F, Katsumata N, Baba T, Morohashi K, Laporte J, Kitagawa M, Ogata T
- Journal Title
  
  Journal of Biological Chemistry 283(9)
  
  Pages: 5525-5532
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients2004
- Author(s)
  Sato N, Katsumata N, Ogata T, et al.
- Journal Title
  
  Journal of Clinical Endocrinology and Metabolism 89(3)
  
  Pages: 1079-1088
- Data Source
  KAKENHI-PROJECT-16086215
[Presentation] 副腎低形成症の新たな遺伝的病因の同定：ZNRF3遺伝子のエクソン2欠失2021
- Author(s)
  天野直子, 鳴海覚志, 会津克也, 宮澤真理, 勝又規行, 石井智弘, 長谷川奉延
- Organizer
  第54回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-17K10091
[Presentation] AAVベクターによる11β水酸化酵素欠損症の遺伝子治療モデル作成2021
- Author(s)
  内木康博, 宮戸真美, 堀川玲子, 阿久津英憲, 勝又規行, 深見真紀
- Organizer
  第54回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-17K10091
[Presentation] 本邦の先天性リポイド副腎過形成症における病型別の頻度と表現型の解明2021
- Author(s)
  石井智弘, 田島敏広, 鹿島田健一, 向井徳男, 棚橋祐典, 勝又規行, 菅野潤子,濱島崇, 都研一, 位田忍, 長谷川奉延
- Organizer
  第54回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-17K10091
[Presentation] 先天性副腎過形成症スクリーニングの現状と課題2021
- Author(s)
  田島敏広, 長谷川奉延, 石井智弘, 鹿島田健一, 高澤啓、勝又規行, 棚橋祐典、向井徳男
- Organizer
  第124回日本小児科学会学術総会
- Data Source
  KAKENHI-PROJECT-17K10091
[Presentation] 11β水酸化酵素欠損症モデルマウスに対するAAVベクターによる遺伝子治療の試み2020
- Author(s)
  内木康博, 宮戸真美, 堀川玲子, 高田修治, 勝又規行, 深見真紀
- Organizer
  第93回日本内分泌学会学術総会
- Data Source
  KAKENHI-PROJECT-17K10091
[Presentation] 本邦の先天性リポイド副腎過形成症の有病率と病型別臨床像の解明2020
- Author(s)
  石井智弘, 鹿島田健一, 棚橋祐典, 向井徳男, 田島敏広, 勝又規行, 長谷川奉延
- Organizer
  第93回日本内分泌学会学術総会
- Data Source
  KAKENHI-PROJECT-17K10091
[Presentation] 本邦における21水酸化酵素欠損症の予後調査2019
- Author(s)
  棚橋祐典, 鈴木滋, 鹿島田健, 向井徳男, 勝又規行, 石井智弘, 田島敏広, 長谷川奉延
- Organizer
  第29回臨床内分泌代謝Update
- Data Source
  KAKENHI-PROJECT-17K10091
[Presentation] 男性化徴候から学童期に診断され、補充療法を要した21水酸化酵素欠損症の2例2019
- Author(s)
  大沼真輔, 三善陽子, 福岡智哉, 福井美穂, 里村宜紀, 安田紀恵, 木村武司, 橘真紀子, 別所一彦, 山本威久, 勝又規行, 田中弘之, 大薗恵一
- Organizer
  第53回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-17K10091
[Presentation] 11β水酸化酵素欠損症モデルマウスを用いたAAV9ベクターによる遺伝子治療の試み2019
- Author(s)
  内木康博, 宮戸真美, 堀川玲子, 高田修治, 勝又規行, 深見真紀
- Organizer
  第27回日本ステロイドホルモン学会学術集会
- Data Source
  KAKENHI-PROJECT-17K10091
[Presentation] DAX-1新規ノンストップ変異を有した先天性副腎低形成症の兄弟2019
- Author(s)
  太田知子, 勝又規行, 内木康博, 堀川玲子
- Organizer
  第92回日本内分泌学会学術総会
- Data Source
  KAKENHI-PROJECT-17K10091
[Presentation] 11β水酸化酵素欠損症モデルマウスを用いたAAV9ベクターによる遺伝子治療の試み2019
- Author(s)
  内木康博, 宮戸真美, 堀川玲子, 高田修治, 勝又規行, 深見真紀
- Organizer
  第53回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-17K10091
[Presentation] 非古典型先天性リポイド副腎過形成症の思春期・成人期の精巣機能2019
- Author(s)
  石井智弘, 堀尚明, 天野直子, 綾美咲, 柴田洋孝, 勝又規行, 長谷川奉延
- Organizer
  第53回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-17K10091
[Presentation] Induction of CYP21A2 with AAV vector for gene therapy of CAH2018
- Author(s)
  Naiki Y, Miyado M, Hasegawa Y, Horikawa R, Takada S, Pang S, Katsumata N, Fukami M
- Organizer
  ENDO 2018
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10091
[Presentation] 男性化徴候を契機に診断された非古典型21水酸化酵素欠損症の一例2018
- Author(s)
  福岡智哉, 三善陽子, 大沼真輔, 和田珠希, 里村宜紀, 安田紀恵, 山本景子, 木村武司, 橘真紀子, 別所一彦, 山本威久, 勝又規行, 大薗恵一
- Organizer
  第28回臨床内分泌代謝Update
- Data Source
  KAKENHI-PROJECT-17K10091
[Presentation] AAVベクターを用いた線維芽細胞への遺伝子導入による先天性副腎皮質過形成の遺伝子治療の試み2018
- Author(s)
  内木康博, 宮戸真美, 長谷川雄一, 堀川玲子, 高田修治, 勝又規行, 深見真紀
- Organizer
  第91回日本内分泌学会学術総会
- Data Source
  KAKENHI-PROJECT-17K10091
[Presentation] AAVベクターを用いた遺伝子導入による先天性副腎皮質過形成の遺伝子治療の試み2018
- Author(s)
  内木康博, 宮戸真美, 長谷川雄一, 堀川玲子, 高田修治, 勝又規行, 深見真紀
- Organizer
  第52回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-17K10091
[Presentation] CYP21A2遺伝子のフレームシフト変異R483del1nt (CGG＞CC) はCYP21A1P偽遺伝子に由来する2017
- Author(s)
  勝又規行
- Organizer
  第51回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-17K10091
[Presentation] マススクリーニングで発見された非古典型21水酸化酵素欠損症女児6例のCYP21A2遺伝子解析2017
- Author(s)
  勝又規行, 小笠原敦子, 泉維昌, 田苗綾子, 徳弘悦郎, 木下朋絵, 鬼形和道
- Organizer
  第90回日本内分泌学会学術総会
- Data Source
  KAKENHI-PROJECT-17K10091
[Presentation] 新規MC2R遺伝子変異p.G226Rによる先天性ACTH不応症の１例2013
- Author(s)
  勝又規行, 中村豊
- 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-23591523
[Presentation] 自然に思春期が発来したコレステロール側鎖切断酵素欠損症の女児例2013
- Author(s)
  勝又規行,水野晴夫,藤原幾磨,小川英伸
- Organizer
  第86回日本内分泌学会学術総会
- Place of Presentation
  仙台
- Data Source
  KAKENHI-PROJECT-23591523
[Presentation] 新生児マス・スクリーニングにおける17α-hydroxyprogesterone (17OHP) 軽度から中等度高値症例の解析2013
- Author(s)
  西垣五月, 高橋千恵, 山本晶子, 水野祐介, 宮下健悟, 内木康博, 品川隆, 勝又規行, 堀川玲子
- Organizer
  第86回日本内分泌学会学術総会
- Place of Presentation
  仙台
- Data Source
  KAKENHI-PROJECT-23591523
[Presentation] Spontaneous pubertal presentation in a 46,XX patient with cholesterol side-chain cleavage enzyme deficiency2013
- Author(s)
  Katsumata N, Mizuno H, Fujiwara I, Ogawa E.
- Organizer
  95th Annual Meeting of the Endocrine Society
- Place of Presentation
  San Francisco, CA, USA
- Data Source
  KAKENHI-PROJECT-23591523
[Presentation] 新規MC2R遺伝子変異p.G226Rによる先天性ACTH不応症の1例2013
- Author(s)
  勝又規行,中村豊
- 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-23591523
[Presentation] Spontaneous pubertal presentation in a 46,XX patient with cholesterol side-chain cleavage enzyme deficiency2013
- Author(s)
  Katsumata N, Mizuno H, Fujiwara I, Ogawa E
- Organizer
  第95回米国内分泌学会
- Place of Presentation
  米国カリフォルニア州サンフランシスコ
- Data Source
  KAKENHI-PROJECT-23591523
[Presentation] Combined 17α-hydroxylase/17,20-lyase deficiency in a Kuwaiti patient caused by a homozygous point mutation in the CYP17A1 gene2012
- Author(s)
  al Kandari HW, Katsumata N, Kutty SK, ElShafey AE.
- Organizer
  51st Annual Meeting of the European Society for Pediatric Endocrinology
- Place of Presentation
  Leipzig, Germany
- Data Source
  KAKENHI-PROJECT-23591523
[Presentation] Combined 17α-hydroxylase/17, 20-lyase deficiency in a Kuwaiti patient caused by a homozygous point mutation in the CYP17A1 gene.2012
- Author(s)
  al Kandari HW, Katsumata N, Kutty SK, ElShafey AE
- Organizer
  第51回欧州小児内分泌学会
- Place of Presentation
  ドイツライプツィヒ
- Data Source
  KAKENHI-PROJECT-23591523
[Presentation] 自然に思春期が発来したコレステロール側鎖切断酵素欠損症の女児例.2012
- Author(s)
  勝又規行, 水野晴夫, 藤原幾磨, 小川英伸
- 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-23591523
[Presentation] Two novel HSD3B2 miss-sense mutations with different enzymatic activity forΔ5 steroids : possible cause for elevated levels of 17-hydroxyprogesterone (17-OHP) in 3β-hydroxysteroid dehydrogenase (3β-HSD) deficiency patients2012
- Author(s)
  Takasawa K, Kashimada K, Ono M, Matsubara Y, Hijikata A, Katsumata N, Takagi M, Ohara O, Morio T, Mizutani S.
- Organizer
  94th Annual Meeting of the Endocrine Society
- Place of Presentation
  Houston, TX, USA
- Data Source
  KAKENHI-PROJECT-23591523
[Presentation] Two novel HSD3B2 miss-sense mutations with different enzymatic activity for Δ5 steroids: possible cause for elevated levels of 17-hydroxyprogesterone (17-OHP) in 3β-hydroxysteroid dehydrogenase (3β-HSD) deficiency patients.2012
- Author(s)
  Takasawa K, Kashimada K, Ono M, Matsubara Y, Hijikata A, Katsumata N, Takagi M, Ohara O, Morio T, Mizutani S
- Organizer
  第74回米国内分泌学会
- Place of Presentation
  米国テキサス州ヒューストン
- Data Source
  KAKENHI-PROJECT-23591523
[Presentation] 基質特異的な残存活性の差異をを認めた新規HSD3B2遺伝子変異の検討.2012
- Author(s)
  高澤啓, 小野真, 土方敦司, 松原洋平, 勝又規行, 高木正稔, 森尾友宏, 小原収, 鹿島田健一, 水谷修紀
- 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-23591523
[Presentation] STAR遺伝子にde novoの新規変異T204Rが確認された先天性リポイド過形成症の1例2012
- Author(s)
  勝又規行,中村俊郎
- Organizer
  第85回日本内分泌学会学術集会
- Place of Presentation
  名古屋
- Data Source
  KAKENHI-PROJECT-23591523
[Presentation] Spectrum of the AAAS gene mutations in Japanese patients with Allgrove syndrome.2012
- Author(s)
  Katsumata N, Ikemoto S
- Organizer
  第74回米国内分泌学会
- Place of Presentation
  米国テキサス州ヒューストン
- Data Source
  KAKENHI-PROJECT-23591523
[Presentation] Autoimmune polyendocrine syndrome type 1 due to homozygous missense mutation in autoimmune regulator gene AIRE in a consanguineous Saudi family.2012
- Author(s)
  Al-Dubayee M, Al Alwan I, al Kandari H, Katsumata N, Al Balwi M
- Organizer
  第51回欧州小児内分泌学会
- Place of Presentation
  ドイツライプツィヒ
- Data Source
  KAKENHI-PROJECT-23591523
[Presentation] 新規CYP21A2遺伝子変異による非古典型21水酸化酵素欠損症の1例.2012
- Author(s)
  菅原秀典, 徳弘悦郎, 志賀健太郎, 勝又規行, 本間桂子, 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-23591523
[Presentation] STAR遺伝子にde novoの新規変異T204Rが確認された先天性リポイド過形成症の１例.2012
- Author(s)
  勝又規行，中村俊郎
- Organizer
  第85回日本内分泌学会学術集会
- Place of Presentation
  名古屋
- Data Source
  KAKENHI-PROJECT-23591523
[Presentation] Spectrum of the AAAS gene mutations in Japanese patients with Allgrove syndrome2012
- Author(s)
  Katsumata N, Ikemoto S.
- Organizer
  94th Annual Meeting of the Endocrine Society
- Place of Presentation
  Houston, TX, USA
- Data Source
  KAKENHI-PROJECT-23591523
[Presentation] マススクリーニングを契機に発見された3β-水酸化ステロイド脱水素酵素欠損症の1例.2012
- Author(s)
  高澤啓, 鹿島田健一, 松原洋平, 小野真, 高木正稔, 本間桂子, 長谷川奉延, 勝又規行, 森尾友宏, 水谷修紀
- Organizer
  第85回日本内分泌学会学術集会
- Place of Presentation
  名古屋
- Data Source
  KAKENHI-PROJECT-23591523
[Presentation] 21水酸化酵素欠損症の遺伝子解析ではCYP21A2遺伝子の全イントロンの検索は必須である.2011
- Author(s)
  勝又規行, 堀川玲子
- Organizer
  第45回日本小児内分泌学会学術集会
- Place of Presentation
  さいたま市
- Data Source
  KAKENHI-PROJECT-23591523
[Presentation] 両則アレルに2種の新規変異を認めた3β-水酸化ステロイド脱水素酵素欠損症の1例.2011
- Author(s)
  高澤啓, 鹿島田健一, 松原洋平, 小野真, 高木正稔, 本間桂子, 長谷川奉延, 勝又規行, 森尾友宏, 水谷修紀
- Organizer
  第45回日本小児内分泌学会学術集会
- Place of Presentation
  さいたま市
- Data Source
  KAKENHI-PROJECT-23591523
[Presentation] Novel and de novo mutation in the STAR gene in a Japanese patient with congenital lipoid adrenal hyperplasia.2011
- Author(s)
  Katsumata N, Nakamura T
- Organizer
  第93回米国内分泌学会
- Place of Presentation
  米国マサチューセッツ州ボストン
- Data Source
  KAKENHI-PROJECT-23591523
[Presentation] STAR遺伝子に新規変異T204Rが確認された先天性リポイド過形成症の１例.2011
- Author(s)
  中村俊郎, 勝又規行
- Organizer
  第45回日本小児内分泌学会学術集会
- Place of Presentation
  さいたま市
- Data Source
  KAKENHI-PROJECT-23591523
[Presentation] 21水酸化酵素欠損症の遺伝子解析ではCYP21A2遺伝子の全イントロンの検索は必須である2011
- Author(s)
  勝又規行,堀川玲子
- Organizer
  第45回日本小児内分泌学会学術集会
- Place of Presentation
  さいたま
- Data Source
  KAKENHI-PROJECT-23591523
[Presentation] Novel and de novo mutation in the STAR gene in a Japanese patient with congenital lipoid adrenal hyperplasia2011
- Author(s)
  Katsumata N, Nakamura T.
- Organizer
  93rd Annual Meeting of the Endocrine Society
- Place of Presentation
  Boston, MA, USA
- Data Source
  KAKENHI-PROJECT-23591523
[Presentation] STAR遺伝子の新規p.T204R変異が見いだされた先天性副腎リポイド過形成症の1例.2011
- Author(s)
  勝又規行, 中村俊郎
- Organizer
  第19回日本ステロイドホルモン学会学術集会
- Place of Presentation
  福岡市
- Data Source
  KAKENHI-PROJECT-23591523
[Presentation] 新規の遺伝子変異を認めたAllgrove症候群の一例.2011
- Author(s)
  池本智, 櫻井謙, 藤本義隆, 本木隆規, 冨田和江, 桑島成央, 宮田市郎, 齋藤義弘, 勝又規行, 井田博幸
- Organizer
  第45回日本小児内分泌学会学術集会
- Place of Presentation
  さいたま市
- Data Source
  KAKENHI-PROJECT-23591523

1. FUKAMI Maki (40265872)

# of Collaborated Projects: 5 results

# of Collaborated Products: 3 results
2. NAIKI Yasuhiro (20470007)

# of Collaborated Projects: 4 results

# of Collaborated Products: 0 results
3. OGATA Tsutomu (40169173)

# of Collaborated Projects: 2 results

# of Collaborated Products: 4 results
4. SATO Naoko (10383069)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
5. MATSUO Nobutake (50173802)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
6. HASEGAWA Tomonobu (20189533)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
7. KOSAKI Kenjiro (30234743)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
8. 小野寺雅史 (10334062)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
9. 高田修治 (20382856)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
10. 阿久津英憲 (50347225)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
11. 奥山虎之

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results

KATSUMATA Noriyuki 勝又 規行

KATSUMATA NORIYUKI 勝又 規行

勝又 規行 カツマタ ノリユキ

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Co-Researchers

Development of gene therapy for congenital adrenal hyperplasia using AAV vectors and iPS cells

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Exploration of novel causative genes for adrenal hypoplasia congenital and familial isolated glucocorticoid deficiencyPrincipal Investigator

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Development of gene therapy for congenital adrenal hyperplasia using AAV vectors and iPS cells

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Extra-Adrenal Induction of Cyp21a1 Ameliorates Systemic Steroid Metabolism in a Mouse Model of Congenital Adrenal Hyperplasia

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Search for novel genes causing congenital lipoid adrenal hyperplasiaPrincipal Investigator

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Extra-adrenal expression of Cyp21a1 for gene therapy of congenital adrenal hyperplasia

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Comprehensive mutation and susceptibility analyses and its clinical application in disorders of sex development and reproductive dysfunction

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CLARIFICATION OF CLINICAL ROLE AND GROWTH REGULATION MECHANISM OF THE SHOX GENE ON THE HUMAN PSEUDOAUTOSOMAL REGION

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RESEARCH ON CONTROL OF STEROID HORMONE BIOSYNTHESISPrincipal Investigator

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マウスPeptide 23/PAPファミリーのゲノムDNAのクローニングPrincipal Investigator

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[Book] 先天性副腎リポイド過形成症(Prader病).症候群ハンドブック初版(井村裕夫編)2011

Author(s)

Total Pages

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Data Source

[Book] 先天性副腎リポイド過形成症（Prader病）. 症候群ハンドブック 初版（井村裕夫編）2011

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Total Pages

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[Journal Article] Clinical features of 57 patients with lipoid congenital adrenal hyperplasia: Criteria for nonclassic form revisited2020

Author(s)

Journal Title

DOI

KATSUMATA Noriyuki 勝又規行

KATSUMATA NORIYUKI 勝又規行

勝又規行カツマタノリユキ

[Book] 先天性副腎リポイド過形成症（Prader病）. 症候群ハンドブック　初版（井村裕夫編）2011