2010 Fiscal Year Final Research Report
Molecular and functional analyses of OTX2 in patients with congenital pituitary hormone deficiency
| Project/Area Number |
21791025
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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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 |
DATEKI Sumito 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, 共同研究員 (70462801)
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| Project Period (FY) |
2009 – 2010
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| Keywords | 遺伝子 / 転写因子 / 下垂体 |
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| Research Abstract |
Recent studies have suggested a positive role of OTX2 in pituitary as well as ocular development and function. In this study, we performed clinical and molecular analyses in patients with OTX2 mutations, and revealed detailed pituitary phenotype of the mutation positive patients and the mechanism of OTX2 for development of hypopituitarism. These results allow for an appropriate hormone-replacement therapy in patients with OTX2 mutations and an understanding of molecular mechanism of pituitary development.
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[Journal Article] Mutation and Gene Copy Number Analyses of Six Pituitary Transcription Factor Genes in 71 Patients with Combined Pituitary Hormone Deficiency : Identification of a Single Patient with LHX4 Deletion.2010
Author(s)
Dateki S, Fukami M, Uematsu A, Kaji M, Iso M, Ono M, Mizota M, Yokoya S, Motomura K, Kinoshita E, Moriuchi H, Ogata T.
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Journal Title
J Clin Endocrinol Metab 95巻
Pages: 4043-4047
Peer Reviewed
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[Journal Article] Heterozygous OTX2 mutations are associated with variable pituitary phenotype.2010
Author(s)
Dateki S, Kosaka K, Hasegawa K, Tanaka H, Azuma N, Yokoya S, Muroya K, Adachi M, Tajima T, Motomura K, Kinoshita E, Moriuchi H, Sato N, Fukami M, Ogata T.
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Journal Title
J Clin Endocrinol Metab 95巻
Pages: 756-764
Peer Reviewed
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