Search for novel genes causing congenital lipoid adrenal hyperplasia
| Project/Area Number |
23591523
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | National Research Institute for Child Health and Development |
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Principal Investigator |
KATSUMATA NORIYUKI 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 (10260340)
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| Project Period (FY) |
2011 – 2013
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| Project Status |
Completed (Fiscal Year 2013)
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| Budget Amount *help |
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2013: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2012: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2011: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | 内分泌学 / 遺伝子 / ステロイドホルモン |
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| Research Abstract |
Novel candidate genes (FDX1, FDXR, and TRERF1) were analyzed in patients with congenital lipoid adrenal hyperplasia who lacked mutations in genes encoding STAR and P450SCC. No mutations were found in FDX1 and FDXR. One heterozygous mutation resulting in an amino acid substitution was identified in the TRERF1 gene in a patient. Functional significance of the mutation remains to be estimated.
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Report
(4 results)
Research Products
(40 results)
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[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
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Journal Title
Endocrine Journal
Volume: 61
Issue: 1
Pages: 35-40
DOI
NAID
ISSN
0918-8959, 1348-4540
Related Report
Peer Reviewed
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[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
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Journal Title
FASEB J
Volume: 27
Issue: 8
Pages: 3198-3208
DOI
Related Report
Peer Reviewed
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[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.
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Journal Title
Muscle Nerve
Volume: 48(3)
Issue: 3
Pages: 381-386
DOI
Related Report
Peer Reviewed
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[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
Related Report
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