• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

Elucidation of synaptic dysfunctions in patients with developmental disorder

Research Project

Project/Area Number 15K09631
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Pediatrics
Research InstitutionTokyo Women's Medical University

Principal Investigator

Yamamoto Toshiyuki  東京女子医科大学, 医学部, 教授 (20252851)

Co-Investigator(Renkei-kenkyūsha) SHIMOJIMA Keiko  東京女子医科大学, 医学部, 特任助教 (30578935)
Project Period (FY) 2015-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2016: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2015: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
KeywordsヒトiPS細胞 / シナプス機能 / 発達障害 / 遺伝子ノックダウン / ゲノム編集
Outline of Final Research Achievements

Genomic analysis studies on patients with developmental disorders have led the synaptic dysfunction to be considered the essence of the disorder. However, it is almost always that synaptic pathology is suspected from genomic information, and the actual state of molecular pathology at the cell level is hardly understood yet. Therefore, we analyzed the pathological condition at the level of neurons differentiated from human iPS cells and attempted to clarify the molecular dysfunction and its pathology. As a result, it was shown that gene knockdown reduces spine density in neuronal dendrites. We are planning to investigate whether this phenomenon can be rescued by drug administration in the future.

Report

(4 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Research-status Report
  • 2015 Research-status Report
  • Research Products

    (12 results)

All 2017 2016 2015

All Journal Article (10 results) (of which Peer Reviewed: 10 results,  Acknowledgement Compliant: 10 results,  Open Access: 3 results) Presentation (2 results) (of which Int'l Joint Research: 1 results,  Invited: 1 results)

  • [Journal Article] Possible genes responsible for developmental delay observed in patients with rare 2q23q24 microdeletion syndrome: literature review and description of an additional patient2017

    • Author(s)
      Shimojima K, Okamoto N, Yamamoto T
    • Journal Title

      Congenit Anom

      Volume: in press

    • NAID

      130008142363

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] An Xq22.1q22.2 nullisomy in a male patient with severe neurological impairment.2017

    • Author(s)
      Shirai K, Higashi Y, Shimojima K, Yamamoto T.
    • Journal Title

      Am J Med Genet A.

      Volume: 173(4) Issue: 4 Pages: 1124-1127

    • DOI

      10.1002/ajmg.a.38134

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan.2017

    • Author(s)
      Yamamoto T, Shimojima K, Matsufuji M, Mashima R, Sakai E, Okuyama T.
    • Journal Title

      Brain Dev.

      Volume: 39(5) Issue: 5 Pages: 422-425

    • DOI

      10.1016/j.braindev.2016.12.004

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Mandibulofacial dysostosis with microcephaly: A case presenting with seizures2017

    • Author(s)
      Matsuo M, Yamauchi A, Ito Y, Sakauchi M, Yamamoto T, Okamoto N, Tsurusaki Y, Miyake N, Matsumoto N, Saito K.
    • Journal Title

      Brain Dev.

      Volume: 39(2) Issue: 2 Pages: 177-181

    • DOI

      10.1016/j.braindev.2016.08.008

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis.2016

    • Author(s)
      Shimojima K, Ondo Y, Matsufuji M, Sano N, Tsuru H, Oyoshi T, Higa N, Tokimura H, Arita K, Yamamoto T.
    • Journal Title

      Eur J Med Genet.

      Volume: 59(11) Issue: 11 Pages: 559-563

    • DOI

      10.1016/j.ejmg.2016.10.006

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia2015

    • Author(s)
      Shimojima K, Okamoto N, Yamamoto T.
    • Journal Title

      Am J Med Genet A

      Volume: 170A Issue: 4 Pages: 1076-1079

    • DOI

      10.1002/ajmg.a.37545

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy.2015

    • Author(s)
      Yamamoto T, Shimojima K, Yano T, Ueda Y, Takayama R, Ikeda H, Imai K.
    • Journal Title

      Brain Dev

      Volume: 38 Issue: 3 Pages: 280-284

    • DOI

      10.1016/j.braindev.2015.09.004

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy.2015

    • Author(s)
      Yamamoto T, Shimojima K, Shibata T, Akiyama M, Oka M, Akiyama T, Yoshinaga H, Kobayashi K.
    • Journal Title

      Human Genome Variation

      Volume: 2 Issue: 1 Pages: 15048-15048

    • DOI

      10.1038/hgv.2015.48

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations.2015

    • Author(s)
      Sangu N, Shimojima K, Okumura A, Ando T, Yamamoto T.
    • Journal Title

      Epilepsy Res

      Volume: 118 Pages: 10-13

    • DOI

      10.1016/j.eplepsyres.2015.09.010

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy.2015

    • Author(s)
      Yamamoto T, Shimojima K, Kimura N, Mogami Y, Usui D, Takayama R, Ikeda H, Imai K.
    • Journal Title

      Human Genome Variation

      Volume: 2 Issue: 1 Pages: 15042-15042

    • DOI

      10.1038/hgv.2015.42

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Presentation] Neuro-functional analysis using disease-specific iPS cells2017

    • Author(s)
      Yamamoto T, Shimojima K
    • Organizer
      Bulletin of the Japanese Sciety for Neurochemistry
    • Related Report
      2017 Annual Research Report
  • [Presentation] Genetic basis of benign infantile epilepsy.2015

    • Author(s)
      Yamamoto T
    • Organizer
      International Symposium on Benign Infantile Seizures (ISBIS), The 17th Annual Meeting of Infantile Seizure Society
    • Place of Presentation
      National Center of Sciences Building (Tokyo, Japan)
    • Year and Date
      2015-09-25
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research / Invited

URL: 

Published: 2015-04-16   Modified: 2019-03-29  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi