2009 Fiscal Year Final Research Report
Mechanisms of Goiter Development in Patients with Thyroglobulin Mutations
| Project/Area Number |
19590569
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Laboratory medicine
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| Research Institution | Dokkyo Medical University |
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Principal Investigator |
IEIRI Tamio Dokkyo Medical University, 医学部, 教授 (80049220)
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| Co-Investigator(Renkei-kenkyūsha) |
HISHINUMA Akira 獨協医科大学, 医学部, 准教授 (40201727)
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| Project Period (FY) |
2007 – 2009
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| Keywords | サイログロブリン異常症 / 甲状腺ホルモン合成障害 / びまん性甲状腺腫 |
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| Research Abstract |
One of the major causes of congenital thyroid dyshormonogenesis is thyroglobulin gene. Until recently mutations of Tg gene were believed rare. However, upon understanding of clinical characteristics, an increasing number of Tg mutations were identified. Adult patients present huge goiter with normal or subclinical hypothyroidism and frequently develop thyroid cancer. We studied gene expression profile of surgically removed patients' thyroid tissues and cultured cells expressing abnormal thyroglobulin in vitro. Several genes were identified which play a significant role in cell proliferation.
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Research Products
(20 results)
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[Journal Article] A novel homozygous missense mutation of the dual oxidase 2 (DUOX2) gene in an adult patient with large goiter.2008
Author(s)
Ohye H, Fukata S, Hishinuma A, Kudo T, Nishihara E, ItoM, Kubota S, Amino N, Ieiri T, Kuma K, Miyauchi A
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Journal Title
Thyroid 10(5)
Pages: 561-566
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[Journal Article] Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroldal type 2 10dothyronine delodinase activity.2007
Author(s)
Kanou Y, Hishinuma A, Tsunekawa K, Seki K, MIzuno Y, Fujisawa H, Imai T, Miura Y, Nagasaka T, Yamada C, Ieiri T, Murakami A, Murata Y.
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Journal Title
J Clin EndocrinoI Metab 92(4)
Pages: 1451-1457
Peer Reviewed
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