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Immuno, Molecular and Genetic Studies on Aetiology of Brain Dysplasia

Research Project

Project/Area Number 06454355
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Embryonic/Neonatal medicine
Research InstitutionTOTTORI UNIVERSITY

Principal Investigator

TAKESHITA Kenzo  Tottori University Faculty of Medicine, Professor, 医学部, 教授 (90037375)

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)
江原 寛昭  鳥取大学, 医学部, 助手
汐田 まどか  鳥取大学, 医学部・附属病院, 助手 (00252867)
Project Period (FY) 1994 – 1996
Project Status Completed (Fiscal Year 1996)
Budget Amount *help
¥3,200,000 (Direct Cost: ¥3,200,000)
Fiscal Year 1996: ¥800,000 (Direct Cost: ¥800,000)
Fiscal Year 1995: ¥700,000 (Direct Cost: ¥700,000)
Fiscal Year 1994: ¥1,700,000 (Direct Cost: ¥1,700,000)
KeywordsBRAIN DEVELOPMENT / BRAIN MALFORMATION / BRAIN DYSPLASIA / Fragile X syndrome / Prader-Willi syndrome / 神経成長因子 / プラダー・ビリ-症候群 / 脆弱X染色体 / Prader-Willi症候群 / 奇形症候群 / Carbohydrate-deficient glycoprotein症候群 / 母斑症
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

Report

(4 results)
  • 1996 Annual Research Report   Final Research Report Summary
  • 1995 Annual Research Report
  • 1994 Annual Research Report
  • Research Products

    (40 results)

All Other

All Publications (40 results)

  • [Publications] Nanba E. et al.: "Nori-radioactive DNA diagnosis for fragile X syndrdome in mentally retarded Japanese males." brain & Development. 17. 317-321 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Ehara H, et al.: "Frequency of the Prader-Willi syndorome in the San-in district Japan." Brain & Development. 17. 324-326 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Hara T, et al.: "Human Vδ2^+γδT-cell tolerance to foreign antigens of Toxoplasma gondii." Proc Natil Acad Sci. 93. 5136-5140 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Nanba E, et al.: "Prenatal diagnsosi of congenital myotonic dystrophy in two Japanese families." Brain & Development. 18. 122-126 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Nishino I, et al.: "A novel mutation in the mitochondrial tRNA gene associatec with a mitochondorial encephalopathy." Biochem Biophys Res Commun. 225. 180-185 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Suzuki I et al.: "Nerve growth factor levels in cerebrospinal fluid from patients with neruologic disorders." J Child Neurol. 12 (in press). (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 竹下研三: "脳と行動〈新医科学体系10巻〉" 中山書店, 371 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] 竹下研三: "脳機能の解明" 創風社(赤池紀扶 小暮久世編), (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] I.Yuasa, K.Ohno, K.Hashimoto, K.Iijima, K.Yamashita, K.Takeshita: "Carbohydrate-deficient glycoprotein syndrome : electrophoretic study of multiple serum glycoproteins." Brain & Development. 17. 13-19 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [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
    • Related Report
      1996 Final Research Report Summary
  • [Publications] H.Ehara, K.Ohno, K.Takeshita: "Frequency of the Prader-Willi syndrome in the San-in district" Japan Brain & Development. 17. 324-326 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] T.Hara, S.Ohashi, Y.Yamashita, T.Abe, H.Hisaeda, K.Himeno, RA.Good, K.Takeshita: "Human Vdelta2^+ gamma deltaT-cell tolerance to foreignantigens of Toxoplasma gondii." Proc.Natl.Acad.Sci.93. 5236-5140 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] E.Nanba, T.Ito, K.kadoaki, A.Makio, M.Nakagawa, T.Yamamoto, I.Yuasa, K.Takeshita: "Prenatal daignosis of congenital myotonic dystrophy in two Japanese families : direct mutation analysisi by a non-radioisotope PCR method and halotype analysis with flanking DNA markers" Brain & Development. 18. 122-126 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] I.Nishino, A.Seki, Y.Maegaki, K.Takeshita, S.Horai, I.Nonaka, Y.Goto: "A novel mutation in the mitochondrial tRNA gene associated with a mitochondrial encephalopathy" Biochem.Biophys.Res.Commun.225. 180-185 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] C.Tanaka, T.Hara, I.Suzaki, Y.Maegaki, K.Takeshita: "Sensorineural deafness in siblings with adenosine deaminase deficiency" Brain & Development. 18. 304-306 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] I.Suzaki, T.Hara, Y.Maegaki, S.Narai, K.Takeshita: "Nerve growth factor levels in cerebrospinal fluid from patients with neurologic disorders" J.Child Neurol. 12 : (in press). (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Nanba E,et al.: "Non-radioactive DNA diagnosis for fregile X syndrome in mentally retarded Japanese males." Brain & Development. 17. 317-321 (1995)

    • Related Report
      1996 Annual Research Report
  • [Publications] Ehara H,et al.: "Frequency of the Prader-Willi syndrome in the San-in district,Japan" Brain & Development. 17. 324-326 (1995)

    • Related Report
      1996 Annual Research Report
  • [Publications] Hara T,et al.: "Human Vδ2^+γδT-cell tolerance to foreign antigens of Toxoplasma gondii." Proc.natl.Acad.Sci.93. 5136-5140 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] Nanba E,et al.: "Prenatal diagnsosis of congentital myotonic dystrophy in two Japanese families." Brain & Development. 18. 122-126 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] Nishino I,et al.: "A novel mutation in the mitochondrial tRNA gene associated with a mitochondrial encephalopathy" Biochem Biophys Res Commun. 225. 180-185 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] Suzaki I,et al.: "Nerve growth factor levels in cerebrospinal fluid from patients with neruologic disordersw" J Child Neurol. 12(in press). (1997)

    • Related Report
      1996 Annual Research Report
  • [Publications] Yamamoto T,Hara T,Takeshita K.: "Quantitative and qualitative abnormalities of peripheral T cells in neurologic disorders" Pediatric Neurology. 11. 142 (1994)

    • Related Report
      1996 Annual Research Report
  • [Publications] Tohyama J,Nanba E,Ohno K.: "Hypoxanthine-guanine phosphoribosyl-transferase(HPRT)deficiency." Human Genetics. 93. 175-181 (1994)

    • Related Report
      1996 Annual Research Report
  • [Publications] 竹下研三: "脳と行動" 中山書店(新医科学体系), 371 (1994)

    • Related Report
      1996 Annual Research Report
  • [Publications] 竹下研三: "脳機能の解明" 創風社(赤池紀扶.小暮久也 編), 486 (1994)

    • Related Report
      1996 Annual Research Report
  • [Publications] Ehara H,Ohno K,Takeshita K.: "Frequency of the Prader-Willi syndrome in the San-in district,Japan" Brain & Development. 17. 324-6 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Akaboshi S,Ohno K,Takeshita: "Neuroradiologic findings in the carbohydrate-deficient glycoprotein syndrome." Neuroradiology. 37. 491-5 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Nanba E,Kohno Y,et al.: "Non-radioactive DNA diagnosis for the fragile X syndrome in mentally retarded Japanese male." Brain & Development. 17. 317-21 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Itoh M,Koeda T,Takeshita K.: "Effects of mazindol in two patients with Prader-Willi syndrome" Pediatr Neurol. 13. 349-351 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Yuasa I,Ohno K,Hashimoto K,: "Carbohydrate glycoprotein syndrome : electrophretic study of multiple serum glycoprotein." Brain & Development. 17. 13-9 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Itoh M, Nakano E, Ishima A,: "Neuroleptic malignant syndrome in striatonigal degeneration" Pediatr Neurol. 13. 255-6 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Yamamoto T.: "Quantitative and qualitative abnormalities of peripheral T cells in neurologic disorders" Pediatric Neurology. 11. 142- (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Tohyama J.: "Hypoxanthine-guanine phosphoribosyltransferase(HPRT)deficiency." Human Genetics. 93. 175-181 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Tohyama J.: "Early onset muscular dystrophy with autosomal dominant heredity" Brain & Development. 16. 402-406 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Iijima K.: "Hemostatic studies on patients with carbohydrate-deficient glycoprotein syndrome." Thrombosis Research. 76. 193-198 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Maegaki K.: "Cervical stimulation in children and adolescents." Electroencephalogr Clin Neurophysiol. 93. 318-323 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Ishii S.: "Nonrandom mitochondrial DNA segregation in human cell hybrids and clinical application." Yonago Acta midica. 37. 161-171 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] 竹下研三: "脳機能の解明" 創風社, 286 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] 竹下研三: "新医科学体系(脳と行動)" 中山出版, 384 (1994)

    • Related Report
      1994 Annual Research Report

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Published: 1994-04-01   Modified: 2016-04-21  

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