1996 Fiscal Year Final Research Report Summary
Immuno, Molecular and Genetic Studies on Aetiology of Brain Dysplasia
Project/Area Number |
06454355
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Research Category |
Grant-in-Aid for Scientific Research (B)
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Allocation Type | Single-year Grants |
Section | 一般 |
Research Field |
Embryonic/Neonatal medicine
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Research Institution | TOTTORI UNIVERSITY |
Principal Investigator |
TAKESHITA Kenzo Tottori University Faculty of Medicine, Professor, 医学部, 教授 (90037375)
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Co-Investigator(Kenkyū-buntansha) |
MAEOKA Yukinori Tottori University faculty of Medicine, Assistant, 医学部附属病院, 助手 (30273890)
AKABOSHI Shinziro Tottori University Faculty of Medicine, Assistant, 医学部附属病院, 助手 (90231810)
YAMAMOTO Toshiyuki Tottori Unviersity Gene Research Center, Assistant, 遺伝子実験施設, 助手 (20252851)
NANBA Eiji Tottori Unviersity Gene Research Center, Associate Professor, 遺伝子実験施設, 助教授 (40237631)
|
Project Period (FY) |
1994 – 1996
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Keywords | BRAIN DEVELOPMENT / BRAIN MALFORMATION / BRAIN DYSPLASIA / Fragile X syndrome / Prader-Willi syndrome / 神経成長因子 |
Research Abstract |
The fragile X syndrome is the most common cause of inherited mental retardation. Recently, a genomic locus was identified and the CGG trinucleotide rerepeat expansion has been found. We reported a rapid screening test by a non-radioisotope PCR tecnique. The prevalence of this syndrome in Japanese males was less than 1%, whch was relatively lower than those reported previously. The Prader-Willi syndrome is characterized by mental retardation, hypogonadism and obesity. Recently, a genomic locus was identified and the deletion was confirmed to be of paternal origin with genomic imprinting. The incidence of this syndromein Japan among live-births was estimated to be 6.64 x 10-5 in 1980-1989. Nerve growth factor (NGF) is a characterized neurotrophic peptide required for the survival and differentiation of several neurons. We measured NGF levels in the cerebrospinal fluid from 73 patients with neurologic disorders. Elevated NGF levels in CSF were detected in the patients with acute inflammatory CNS diseases. NGF in CSF may play a role in neuronal recovery or function as an immunomodulator inchildren with inflammatory and immune-mediated neurologic disorders
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Research Products
(16 results)
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[Publications] E.Nanba, Y.Kohno, A.Matsuda, M.Yano, C.Sato, K.Hashimoto, T.Koeda, K.Yoshino, M.Kimura, Y.Maeoka, T.Yamamoto, Y.Maegaki, I.Eda, K.Takeshita: "Non-radioactive DNA diagnosis for the fragile X syndrome in mentally retarded Japanese males" Brain & Development. 17. 317-321 (1995)
Description
「研究成果報告書概要(欧文)」より
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