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Studies on neurofibromatosis gene

Research Project

Project/Area Number 09470194
Research Category

Grant-in-Aid for Scientific Research (B).

Allocation TypeSingle-year Grants
Section一般
Research Field Dermatology
Research InstitutionThe Jikei University School of Medicine

Principal Investigator

NIIMURA Michihito  The Jikei University School of Medicine Department of Dermatology Professor, 医学部, 教授 (00010190)

Co-Investigator(Kenkyū-buntansha) INABA Yoshikata  The Jikei University School of Medicine Department of Dermatology Professor, 医学部, 助手 (60184727)
SAWADA Shunichi  The Jikei University School of Medicine Department of Dermatology Professor, 医学部, 講師 (50187291)
HONDA Mariko  The Jikei University School of Medicine Department of Dermatology Professor, 医学部, 講師 (20100919)
OTA Mayumi  The Jikei University School of Medicine Department of Dermatology Professor, 医学部, 助手 (70246370)
OTA Arihito  The Jikei University School of Medicine Department of Dermatology Professor, 医学部, 助手 (20168933)
Project Period (FY) 1997 – 2000
Project Status Completed (Fiscal Year 2000)
Budget Amount *help
¥8,200,000 (Direct Cost: ¥8,200,000)
Fiscal Year 2000: ¥1,800,000 (Direct Cost: ¥1,800,000)
Fiscal Year 1999: ¥1,500,000 (Direct Cost: ¥1,500,000)
Fiscal Year 1998: ¥1,500,000 (Direct Cost: ¥1,500,000)
Fiscal Year 1997: ¥3,400,000 (Direct Cost: ¥3,400,000)
Keywordsneurofibromatosis / van Recklinghausen disease / neurilemmomatosis / nerrofibroma / schwannoma / neurofibromin / merlin / 悪性神経鞘腫瘍 / p53遺伝子 / 樹状細胞 / 融合細胞 / 免疫治療 / NF1プロモーター / 神経線維腫瘍2 / 両側性聴神経腫瘍 / 癌抑制遺伝子 / 神経鞘腫症 / 遺伝子 / カフェ・オ・レ斑 / メラニン / モザイク / 神経線維腫症1(NF1) / 神経線維腫症2(NF2) / phenotype-genotype correlation / MS(Mutagenically-Separated)PCR法 / FISH法 / big-deletion / PTT(Protein Truncation Test)法
Research Abstract

We have examined and treated 1640 cases of neurofibromatosis 1 (NF1, von Recklinghausen disease) and 52 cases of neurofibromatosis 2 (NF2) patients. Also there are related groups of patients with conditions which are not neurofibromatosis, such as 54 cases of localized multiple neurofibromas and 103 cases of localized cafe-au-lait spots. Neurofibromatoses are heterogeneous set of conditions having clinical manifestations such as skin, bone and eye disorders. They display wide variability in clinical expressions which make them difficult to classify the disease. NF1 gene was cloned on 17q11.2 in 1990, and the sequence revealed a homology between the NF1 gene product and catalytic domein of the mammmalian GTPase activating protein. 60 exons have been identified in NF1 gene. To investigate the mutation of NF1 gene, the polymerase chain reaction-single strand conformation polymorphism method was applied. Deletions, insertions, translocations and point mutaions were identified, but no hot spots were found. There were 28 cases of segmental neurofibromatosis, 4 children born from these cases have NF1. The most likely explanation for segmental neurofibromatosis is mosaicism for the NF1 gene.
NF2, previously known as bilateral acoustic neurofibromatosis, is an autosomal dominant disorder. Acoustic nerve tumors are characteristic, but other cranial nerve tumors are common. They have spinal and paraspinal tumors, bone changes, and tumors such as meningiomas. The skin tumors of the patients with NF2 are neurilemmmomas which are schwannomas, and are not neurofibromas. We have reported cases of neurilemmomatosis as a clinicalentity clearly distinguished from von Recklinghausens disease. In 1993, NF2 gene was cloned, and we found that the neurilemmomatosis gene and NF2 gene are identical.

Report

(5 results)
  • 2000 Annual Research Report   Final Research Report Summary
  • 1999 Annual Research Report
  • 1998 Annual Research Report
  • 1997 Annual Research Report
  • Research Products

    (24 results)

All Other

All Publications (24 results)

  • [Publications] Burden CE,Niimura M. et.al: "High resolution deletion analysis of constitutional DNA from neurofibromatosis type2 patients using microarray-CGH"Human Mol.Genet.. 10. 271-282 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] 澤田俊一,新村真人 ほか: "神経鞘腫"臨床皮膚科. 42. 1594-1595 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Stevenson D,Niimura M, et.al: "Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1"American Journal of Medical Genetics. 84. 413-419 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] 本田まりこ: "NF2遺伝子の同定と遺伝子変異"日本皮膚科学会雑誌. 109. 1935-1937 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] 澤田俊一: "NF1遺伝子の同定と遺伝子変異"日本皮膚科学会雑誌. 109. 1926-1929 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] 澤田俊一: "NF1 Large deletionが確認されたレックリングハウゼン病の2例"日本皮膚科学会雑誌. 108. 1265-1274 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Niimura M: "Phacomatosis in Japan"Niimura M,Otsuka F,Hino O.. 229 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] 澤田俊一: "Key Word皮膚疾患、Neurofibromatosis1,Neurofibromatosis2"竹原和彦,島田真路,相馬良直. 187 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Bruder CE, Hirvela C, Niimura M, Honda M, et al: "High resolution deletion analysis of Constitutional DNA from neurofibromatosis type2 (NF2) patients using microarray-CGH."Hum Mol Genet. 10 (3). 271-82 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Stevenson DA, Birch PH, Friedman JM, Viskochil DH, Korf BR, Niimura M, et al: "Descriptive analysis of tibial pseudarthonsis in patients with neurofibromatosis 1."Am J Med Genet. 84 (5). 413-9 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Niimura M.: "Overview and clinical aspects of Neurofibromatosis 1."Japan Cancer Association Gann Monogragh on cancer research No.46 Phacomatosis in Japan-epidemiology, Clinical picture, and nolecular biology.. Japan Societies Press. 115-24 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Bruder CE,Niinura.M et al: "High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 patients using microarray-CGH"Hum Mol Genet. 10・3. 271-282 (2001)

    • Related Report
      2000 Annual Research Report
  • [Publications] 澤田俊一,新村眞人 ほか: "神経鞘腫"皮膚科の臨床. 42・10. 1594-1595 (2000)

    • Related Report
      2000 Annual Research Report
  • [Publications] 太田有史,新村眞人 ほか: "母斑症を早くみつける"皮膚科診療プラクティス. 9. 69-77 (2000)

    • Related Report
      2000 Annual Research Report
  • [Publications] David a. Stevenson: "Descriptive Analysis of Tibial Pseudoarthrosis in Patients With Neurofibromatosis 1"American Journal of Medical Genetics. 84. 413-419 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] 新村眞人: "神経線維腫症1(neurofibromatosis1)-上-"日本醫事新報. No.3939. 65-68 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] 新村眞人: "神経線維腫症1(neurofibromatosis2)-下-"日本醫事新報. No.3947. 33-36 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] 本田まりこ: "NF2遺伝子の同定と遺伝子変異"日皮会誌. 109巻12号. 1935-1937 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] 澤田俊一: "NF1遺伝子の同定と遺伝子変異"日皮会誌. 109巻12号. 1926-1929 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] 澤田俊一: "母斑病の原因遺伝子"Pharma Medica. 5月号特集. 75-82 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] 澤田俊一,新村真人: "NF1 large delitionが確認されたレックリングハウゼン病の2例" 日本皮膚科学雑誌. 108・(10). 1265-1274 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] MICHIHITO NIIMURA: "Phacomato sin in Japan(Japan Scientitic Societies Press Kargen)" MICHIHITO NIIMURA,Fujio OTSUKA,OKIO HINO, 229 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 澤田俊一 ら: "NF1遺伝子のbig deletionが確認されたレックリングハウゼン病の2例" 厚生省特定疾患 神経皮膚症候群調査研究班 平成9年度報告書. (1998)

    • Related Report
      1997 Annual Research Report
  • [Publications] 本田まりこ ら: "医者から言われた病気のことがわかる本、母斑症" 永森 静志, 448 (1997)

    • Related Report
      1997 Annual Research Report

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Published: 1997-04-01   Modified: 2016-04-21  

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