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Elucidation of the pathophysiology of neurodevelopmental disorders by evaluating nerve cell network function

Research Project

Project/Area Number 17K18133
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Pediatrics
Neurochemistry/Neuropharmacology
Research InstitutionTokyo Women's Medical University

Principal Investigator

Yamamoto Keiko  東京女子医科大学, 医学部, 助教 (30578935)

Project Period (FY) 2017-04-01 – 2021-03-31
Project Status Completed (Fiscal Year 2020)
Budget Amount *help
¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000)
Fiscal Year 2020: ¥260,000 (Direct Cost: ¥200,000、Indirect Cost: ¥60,000)
Fiscal Year 2019: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2018: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2017: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Keywords神経発達障害 / 疾患iPS細胞 / 神経分化誘導 / アストロサイト / シナプス / スパイン / 共培養 / 活動電位 / Caイメージング / iPS細胞 / ニューロン
Outline of Final Research Achievements

In this study, as a system to verify whether astrocyte abnormalities cause higher brain function, we aim to induce differentiation of astrocytes from patient-derived iPS cells and evaluate their functions. For this porpuse, we worked to induce differentiation of iPS cells into astrocytes. By the method of inducing differentiation via embryoid bodies, cells morphologically similar to astrocytes were obtained. In the future, it will be necessary to verify whether these cells are truly differentiated into astrocytes by gene expression analysis or immunostaining.

Academic Significance and Societal Importance of the Research Achievements

神経発達障害の原因としてニューロンの機能障害を検証する方法については研究者らは既に確立しているが、マウスのアストロサイトとの共培養によるニューロンの分化誘導法である。ヒトアストロサイトの分化誘導法を確立すれば、アストロサイトが直接的に疾患の原因となりうるかどうかの評価が可能となる。また、ニューロンと共培養させることにより生体に近い状況をin vitroにおいて再現できる可能性がある。本研究が目指す評価系が確立すれば社会的意義があると考える。

Report

(5 results)
  • 2020 Annual Research Report   Final Research Report ( PDF )
  • 2019 Research-status Report
  • 2018 Research-status Report
  • 2017 Research-status Report
  • Research Products

    (88 results)

All 2021 2020 2019 2018 2017

All Journal Article (36 results) (of which Int'l Joint Research: 5 results,  Peer Reviewed: 36 results,  Open Access: 15 results,  Acknowledgement Compliant: 5 results) Presentation (50 results) (of which Int'l Joint Research: 1 results,  Invited: 1 results) Book (2 results)

  • [Journal Article] Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease2021

    • Author(s)
      Yamamoto-Shimojima Keiko、Akagawa Hiroyuki、Yanagi Kumiko、Kaname Tadashi、Okamoto Nobuhiko、Yamamoto Toshiyuki
    • Journal Title

      Human Genome Variation

      Volume: 8 Issue: 1 Pages: 14-14

    • DOI

      10.1038/s41439-021-00144-y

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome2020

    • Author(s)
      Imaizumi Taichi、Yamamoto-Shimojima Keiko、Yanagishita Tomoe、Ondo Yumiko、Nishi Eriko、Okamoto Nobuhiko、Yamamoto Toshiyuki
    • Journal Title

      Human Genetics

      Volume: 139 Issue: 12 Pages: 1555-1563

    • DOI

      10.1007/s00439-020-02196-6

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano‐like pattern2020

    • Author(s)
      Yanagishita Tomoe、Imaizumi Taichi、Yamamoto‐Shimojima Keiko、Yano Tamami、Okamoto Nobuhiko、Nagata Satoru、Yamamoto Toshiyuki
    • Journal Title

      Human Mutation

      Volume: 41 Issue: 12 Pages: 2119-2127

    • DOI

      10.1002/humu.24108

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations2020

    • Author(s)
      Ogura Hiromi、Ohga Shouichi、Aoki Takako、Utsugisawa Taiju、Takahashi Hidehiro、Iwai Asayuki、Watanabe Kenichiro、Okuno Yusuke、Yoshida Kenichi、Ogawa Seishi、Miyano Satoru、Kojima Seiji、Yamamoto Toshiyuki、Yamamoto-Shimojima Keiko、Kanno Hitoshi
    • Journal Title

      Human Genome Variation

      Volume: 7 Issue: 1 Pages: 42-42

    • DOI

      10.1038/s41439-020-00130-w

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Analyses of breakpoint junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencing2020

    • Author(s)
      Imaizumi Taichi、Yamamoto-Shimojima Keiko、Yanagishita Tomoe、Ondo Yumiko、Yamamoto Toshiyuki
    • Journal Title

      Journal of Human Genetics

      Volume: 65 Issue: 9 Pages: 735-741

    • DOI

      10.1038/s10038-020-0762-6

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Novel LAMA2 variants identified in a patient with white matter abnormalities2020

    • Author(s)
      Yamamoto-Shimojima Keiko、Ono Hiroaki、Imaizumi Taichi、Yamamoto Toshiyuki
    • Journal Title

      Human Genome Variation

      Volume: 7 Issue: 1 Pages: 16-16

    • DOI

      10.1038/s41439-020-0103-5

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation.2020

    • Author(s)
      Yamamoto-Shimojima K, Imaizumi T, Akagawa H, Kanno H, Yamamoto T.
    • Journal Title

      Am J Med Genet A

      Volume: 182 Issue: 3 Pages: 521-526

    • DOI

      10.1002/ajmg.a.61432

    • Related Report
      2019 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Compound Heterozygous <i>ALDH7A1</i> Mutation Causes the Hemi-Allelic Expression in a Patient with Pyridoxine-Dependent Epilepsy2019

    • Author(s)
      Yanagishita T, Yamamoto-Shimojima K, Koike T, Nasu H, Takahashi Y, Akiyama T, Nagata S, Yamamoto T.
    • Journal Title

      Tokyo Women's Medical University Journal

      Volume: 3 Issue: 0 Pages: 73-77

    • DOI

      10.24488/twmuj.2019005

    • NAID

      130007770823

    • ISSN
      2432-6186
    • Year and Date
      2019-12-20
    • Related Report
      2019 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Advantages of ddPCR in detection of <i>PLP1</i> duplications2019

    • Author(s)
      Imaizumi T, Yamamoto-Shimojima K, Yamamoro T.
    • Journal Title

      Intractable & Rare Diseases Research

      Volume: 8 Issue: 3 Pages: 198-202

    • DOI

      10.5582/irdr.2019.01067

    • NAID

      130007709095

    • ISSN
      2186-361X, 2186-3644
    • Year and Date
      2019-08-31
    • Related Report
      2019 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Phenotypic features of 1q41q42 microdeletion including WDR26 and FBXO28 are clinically recognizable: The first case from Japan.2019

    • Author(s)
      Yanagishita T, Yamamoto-Shimojima K, Nakano S, Sasaki T, Shigematsu H, Imai K, Yamamoto T.
    • Journal Title

      Brain Dev.

      Volume: 41 Issue: 5 Pages: 452-455

    • DOI

      10.1016/j.braindev.2018.12.006

    • Related Report
      2019 Research-status Report 2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP12019

    • Author(s)
      Yamamoto-Shimojima Keiko、Imaizumi Taichi、Aoki Yusuke、Inoue Ken、Kaname Tadashi、Okuno Yusuke、Muramatsu Hideki、Kato Kohji、Yamamoto Toshiyuki
    • Journal Title

      Journal of Human Genetics

      Volume: 未定 Issue: 7 Pages: 665-671

    • DOI

      10.1038/s10038-019-0600-x

    • Related Report
      2019 Research-status Report
    • Peer Reviewed
  • [Journal Article] Natural histories of patients with Wolf-Hirschhorn syndrome derived from variable chromosomal abnormalities.2019

    • Author(s)
      Yamamoto-Shimojima K, Kouwaki M, Kawashima Y, Itomi K, Momosaki K, Ozasa S, Okamoto N, Yokochi K, Yamamoto T.
    • Journal Title

      Congenit Anom (Kyoto).

      Volume: 59 Issue: 5 Pages: 169-173

    • DOI

      10.1111/cga.12318

    • Related Report
      2019 Research-status Report 2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders2019

    • Author(s)
      Yamamoto Toshiyuki、Imaizumi Taichi、Yamamoto-Shimojima Keiko、Kurahashi Hirokazuら,
    • Journal Title

      Brain and Development

      Volume: 41 Issue: 9 Pages: 776-782

    • DOI

      10.1016/j.braindev.2019.05.007

    • Related Report
      2019 Research-status Report
    • Peer Reviewed
  • [Journal Article] Three Japanese patients with 3p13 microdeletions involving FOXP1.2019

    • Author(s)
      Yamamoto-Shimojima K, Okamoto N, Matsumura W, Okazaki T, Yamamoto T.
    • Journal Title

      Brain and Development

      Volume: 41(3) Issue: 3 Pages: 257-262

    • DOI

      10.1016/j.braindev.2018.10.016

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] Establishment of a simple and rapid method to detect MECP2 duplications using digital polymerase chain reaction.2019

    • Author(s)
      Yanagishita T, Yamamoto-Shimojima K, Nakano S, Sasaki T, Shigematsu H, Imai K, Yamamoto T.
    • Journal Title

      Congenital Anomalies (Kyoto)

      Volume: 印刷中 Issue: 1 Pages: 10-14

    • DOI

      10.1111/cga.12325

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] De novo 1p35.2 microdeletion including PUM1 identified in a patient with sporadic west syndrome.2019

    • Author(s)
      Imaizumi T, Mogami Y, Okamoto N, Yamamoto-Shimojima K, Yamamoto T.
    • Journal Title

      Congenital Anomalies (Kyoto)

      Volume: 印刷中 Issue: 6 Pages: 193-194

    • DOI

      10.1111/cga.12322

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] Identification of a rare homozygous <i>SZT2</i> variant due to uniparental disomy in a patient with a neurodevelopmental disorder2018

    • Author(s)
      Imaizumi Taichi、Kumakura Akira、Yamamoto-Shimojima Keiko、Ondo Yumko
    • Journal Title

      Intractable & Rare Diseases Research

      Volume: 7 Issue: 4 Pages: 245-250

    • DOI

      10.5582/irdr.2018.01117

    • NAID

      130007533901

    • ISSN
      2186-361X, 2186-3644
    • Year and Date
      2018-11-30
    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome2018

    • Author(s)
      Shimada Shino、Hirasawa Kyoko、Takeshita Akiko、Nakatsukasa Hidetsugu、Yamamoto-Shimojima Keiko、Imaizumi Taichi、Nagata Satoru、Yamamoto Toshiyuki
    • Journal Title

      American Journal of Medical Genetics Part A

      Volume: 176 Issue: 12 Pages: 2803-2807

    • DOI

      10.1002/ajmg.a.40500

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU2018

    • Author(s)
      Shimada Shino、Oguni Hirokazu、Otani Yui、Nishikawa Aiko、Ito Susumu、Eto Kaoru、Nakazawa Tomoyuki、Yamamoto-Shimojima Keiko、Takanashi Jun-ichi、Nagata Satoru、Yamamoto Toshiyuki
    • Journal Title

      Brain and Development

      Volume: 40 Issue: 9 Pages: 813-818

    • DOI

      10.1016/j.braindev.2018.05.010

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders ? leukodystrophy and autism2018

    • Author(s)
      Yamamoto Toshiyuki、Yamamoto-Shimojima Keiko、Ueda Yuki、Imai Katsumi、Takahashi Yukitoshi、Imagawa Eri、Miyake Noriko、Matsumoto Naomichi
    • Journal Title

      Human Genome Variation

      Volume: 5 Issue: 1 Pages: 18-18

    • DOI

      10.1038/s41439-018-0020-z

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Novel A178P mutation in SLC16A2 in a patient with Allan-Herndon-Dudley syndrome.2018

    • Author(s)
      Yamamoto T, Lu Y, Nakamura R, Shimojima K, Kira R.
    • Journal Title

      Congenit Anom (Kyoto).

      Volume: 58(4) Issue: 4 Pages: 143-144

    • DOI

      10.1111/cga.12251

    • Related Report
      2018 Research-status Report 2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA2018

    • Author(s)
      Shimojima Keiko、Okamoto Nobuhiko、Ohmura Kayo、Nagase Hiroaki、Yamamoto Toshiyuki
    • Journal Title

      Human Genome Variation

      Volume: 5 Issue: 1 Pages: 18007-18007

    • DOI

      10.1038/hgv.2018.7

    • Related Report
      2018 Research-status Report 2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] Somatic mosaic deletions involving SCN1A cause Dravet syndrome2018

    • Author(s)
      Nakayama Tojo、Ishii Atsushi、Yoshida Takeshi、Nasu Hirosato、Shimojima Keiko、Yamamoto Toshiyuki、Kure Shigeo、Hirose Shinichi
    • Journal Title

      American Journal of Medical Genetics Part A

      Volume: 176 Issue: 3 Pages: 657-662

    • DOI

      10.1002/ajmg.a.38596

    • Related Report
      2018 Research-status Report 2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] Mutations in NSD1 and NFIX in Three Patients with Clinical Features of Sotos Syndrome and Malan Syndrome.2017

    • Author(s)
      Lu Y, Chong PF, Kira R, Seto T, Ondo Y, Shimojima K, Yamamoto T.
    • Journal Title

      Journal of Pediatric Genetics

      Volume: Dec;6(4) Issue: 04 Pages: 234-237

    • DOI

      10.1055/s-0037-1603194

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation2017

    • Author(s)
      Shimojima K, Higashiguchi T, Kishimoto K, Miyatake S, Miyake N, Takanashi J, Matsumoto N, Yamamoto T
    • Journal Title

      Hum Genom Var

      Volume: 4 Issue: 1 Pages: 17051-17051

    • DOI

      10.1038/hgv.2017.51

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] A novel <i>CASK</i> mutation identified in siblings exhibiting developmental disorders with/without microcephaly2017

    • Author(s)
      Seto T, Hamazaki T, Nishigaki S, Kudo S, Shintaku H, Ondo Y, Shimojima K, Yamamoto T.
    • Journal Title

      Intractable & Rare Diseases Research

      Volume: 6 Issue: 3 Pages: 177-182

    • DOI

      10.5582/irdr.2017.01031

    • NAID

      130006078836

    • ISSN
      2186-361X, 2186-3644
    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Characteristics of rare and private deletions identified in phenotypically normal individuals.2017

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

      Human Genome Variation

      Volume: 14;4 Issue: 1 Pages: 17037-17037

    • DOI

      10.1038/hgv.2017.37

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Familial 9q33q34 microduplication in siblings with developmental disorders and macrocephaly.2017

    • Author(s)
      Shimojima K, Okamoto N, Goel H, Ondo Y, Yamamoto T.
    • Journal Title

      Europian Journal of Medical Genetics

      Volume: 60(12) Issue: 12 Pages: 650-654

    • DOI

      10.1016/j.ejmg.2017.08.017

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence.2017

    • Author(s)
      Lu Y, Ondo Y, Shimojima K, Osaka H, Yamamoto T.
    • Journal Title

      Human Genome Variation

      Volume: Aug 3;4 Issue: 1 Pages: 17035-17035

    • DOI

      10.1038/hgv.2017.35

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] A 15q14 microdeletion involving MEIS2 identified in a patient with autism spectrum disorder.2017

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

      Human Genome Variation

      Volume: Jul 20;4 Issue: 1 Pages: 17029-17029

    • DOI

      10.1038/hgv.2017.29

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria2017

    • Author(s)
      Matsumaru S, Oguni H, Ogura H, Shimojima K, Nagata S, Kanno H, Yamamoto T
    • Journal Title

      Intractable Rare Diseases Research

      Volume: 6 Issue: 2 Pages: 132-136

    • DOI

      10.5582/irdr.2017.01020

    • NAID

      130005695959

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects.2017

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

      Congenit Anom (Kyoto).

      Volume: 印刷中 Issue: 1 Pages: 36-38

    • DOI

      10.1111/cga.12221

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.2017

    • Author(s)
      Yamamoto T, Shimojima K, Ondo Y, Shimakawa S, Okamoto N.
    • Journal Title

      Am J Med Genet A.

      Volume: 印刷中 Issue: 5 Pages: 1264-1269

    • DOI

      10.1002/ajmg.a.38168

    • Related Report
      2017 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
      2017 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Neurological manifestations of 2q31 microdeletion syndrome.2017

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

      Congenit Anom (Kyoto).

      Volume: 印刷中 Issue: 6 Pages: 197-200

    • DOI

      10.1111/cga.12212

    • NAID

      130008142300

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Possible genes responsible for developmental delay observed in patients with rare 2q23q24 microdeletion syndrome: Literature review and description of an additional patient.2017

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

      Congenit Anom (Kyoto).

      Volume: 印刷中 Issue: 4 Pages: 109-113

    • DOI

      10.1111/cga.12205

    • NAID

      130008142363

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Presentation] 白質異常を端緒に特定された新規LAMA2バリアント.2020

    • Author(s)
      山本圭子, 小野浩明, 今泉太一, 山本俊至.
    • Organizer
      日本人類遺伝学会第65回大会
    • Related Report
      2020 Annual Research Report
  • [Presentation] エクソン近傍のイントロン欠失によって生じるPLP1スプライシング異常.2020

    • Author(s)
      山本圭子, 赤川浩之, 荒木 敦, 柳 久美子, 要 匡, 岡本伸彦, 山本俊至.
    • Organizer
      日本人類遺伝学会第65回大会
    • Related Report
      2020 Annual Research Report
  • [Presentation] ナノポアシーケンスによって明らかになるゲノム構造異常2020

    • Author(s)
      山本俊至, 柳下友映, 今泉太一, 山本圭子, 岡本伸彦
    • Organizer
      日本人類遺伝学会第65回大会
    • Related Report
      2020 Annual Research Report
  • [Presentation] 臨床症状よりCoffin-Siris症候群が疑われた患者において認められた新規EP300変異2020

    • Author(s)
      相馬未来, チョン・ピンフィー, 今泉太一, 柳下友映, 山本圭子, 山本俊至
    • Organizer
      日本人類遺伝学会第65回大会
    • Related Report
      2020 Annual Research Report
  • [Presentation] 選択的IgG2低下を示し中耳炎を反復したZBTB20のde novo変異によるPrimrose症候群の1例.2020

    • Author(s)
      山本圭子, 今泉太一, 赤川浩之, 菅野 仁, 山本俊至.
    • Organizer
      第62回日本小児神経学会学術集会
    • Related Report
      2020 Annual Research Report
  • [Presentation] ロングリードシーケンサーを用いた染色体構造異常の解析2020

    • Author(s)
      今泉太一, 柳下友映, 山本圭子, 西恵理子, 岡本伸彦, 山本俊至
    • Organizer
      第62回日本小児神経学会学術集会
    • Related Report
      2020 Annual Research Report
  • [Presentation] 重複の両端のコピー数がさらに増えている新規染色体構造異常のメカニズム2020

    • Author(s)
      柳下友映, 山本圭子, 今泉太一, 恩藤由美子, 岡本伸彦, 矢野珠巨, 永田 智, 山本俊至
    • Organizer
      第62回日本小児神経学会学術集会
    • Related Report
      2020 Annual Research Report
  • [Presentation] 疾患特異的iPS細胞を用いたCDKL5てんかん脳症の病態解明2020

    • Author(s)
      山本俊至, 山本圭子
    • Organizer
      第62回日本小児神経学会学術集会
    • Related Report
      2020 Annual Research Report
    • Invited
  • [Presentation] Acrocentricな染色体の短腕への転座を示した2例.2020

    • Author(s)
      山本圭子, 長谷川結子, 岡本伸彦, 菅野 仁, 山本俊至.
    • Organizer
      第44回日本遺伝カウンセリング学会学術集会
    • Related Report
      2020 Annual Research Report
  • [Presentation] 14qサブテロメア欠失の表現型に関する一報告2020

    • Author(s)
      山崎あや, 宮田理英, 恩藤由美子, 山本圭子, 山本俊至
    • Organizer
      第44回日本遺伝カウンセリング学会学術集会
    • Related Report
      2020 Annual Research Report
  • [Presentation] G分染法では2つの染色体間での均衡転座と診断された3染色体間での不均衡転座2020

    • Author(s)
      山本俊至, 山本圭子, 恩藤由美子, 谷本綾子, 藤井裕士
    • Organizer
      第44回日本遺伝カウンセリング学会学術集会
    • Related Report
      2020 Annual Research Report
  • [Presentation] WAGR症候群患者の実態調査と家族会サポート2020

    • Author(s)
      村松みゆき, 柳下友映, 下島圭子, 三浦健一郎, 山本俊至
    • Organizer
      第44回日本遺伝カウンセリング学会学術集会
    • Related Report
      2020 Annual Research Report
  • [Presentation] 新規BICD2バリアントにより歩容異常・下肢優位の筋力低下を示した母子例2020

    • Author(s)
      柳下友映, 佐藤孝俊, 石垣景子, 永田智, 山本俊至
    • Organizer
      第44回日本遺伝カウンセリング学会学術集会
    • Related Report
      2020 Annual Research Report
  • [Presentation] 精神運動発達遅滞・特徴的顔貌・心奇形を認める19q13.32欠失の新規症例2019

    • Author(s)
      柳下友映・山本圭子・恩藤由美子・岡本信彦・永田 智・山本俊至
    • Organizer
      第61回日本小児神経学会学術集会
    • Related Report
      2019 Research-status Report
  • [Presentation] 女性Pelizaeus-Merzbacher病患者の発症メカニズムと治療戦略の検討2019

    • Author(s)
      山本圭子・青木雄介・井上 健・山本俊至
    • Organizer
      第61回日本小児神経学会学術集会
    • Related Report
      2019 Research-status Report
  • [Presentation] 10番染色体長腕サブテロメア欠失の6例2019

    • Author(s)
      今泉太一, 山本圭子, 椎原 隆, 岡本伸彦, 山本俊至
    • Organizer
      第61回日本小児神経学会学術集会
    • Related Report
      2019 Research-status Report
  • [Presentation] Analysis of risk factors at pancreaticoduodenectomy in elderly patients2019

    • Author(s)
      Koutarou Kuhara・Shunichi Shiozawa・Takebumi Usui・Akira Tsuchiya・Shimojima Keiko・Yukio Shimojima・Yasuyo Nakayasu・Kentaro Yamaguchi・Hajime Yokomizo・Kazuhiko Yoshimatsu・Takeshi Shimakawa・Takao Kastube・Yoshihiko Naritaka
    • Organizer
      第31回日本肝胆膵外科学会・学術集会
    • Related Report
      2019 Research-status Report
  • [Presentation] Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders.2019

    • Author(s)
      Yamamoto T, Imaizumi T, Yamamoto-Shimojima K, Yanagishita T, Seto T, Okamoto N
    • Organizer
      The 59th Annual Meeting of the Japanese Teratology Society/ The 13th World Congress of the International Cleftlip and Palate Foundation -CLEFT 2019-
    • Related Report
      2019 Research-status Report
    • Int'l Joint Research
  • [Presentation] 皮質下嚢胞をもつ大脳型白質脳症亜系遺伝子MLC2のヘテロ変異が同定された1例2019

    • Author(s)
      井上陽子・本岡里英子・今泉太一・恩藤由美子・山本圭子・山本俊至
    • Organizer
      臨床遺伝2019 in Sapporo/第26回日本遺伝子診療学会大会・第43回日本遺伝カウンセリング学会学術集会合同学術集会
    • Related Report
      2019 Research-status Report
  • [Presentation] 全エクソーム解析で診断されたPrimrose症候群の本邦第1例2019

    • Author(s)
      山本圭子・今泉太一・赤川浩之・山本俊至
    • Organizer
      臨床遺伝2019 in Sapporo/第26回日本遺伝子診療学会大会・第43回日本遺伝カウンセリング学会学術集会合同学術集会
    • Related Report
      2019 Research-status Report
  • [Presentation] 着床前染色体異数性診断(PGT-A)に用いる染色体数的異常の診断方法の検討2019

    • Author(s)
      山本俊至・山本圭子・恩藤由美子・青山直樹・黒田知子・加藤恵一
    • Organizer
      臨床遺伝2019 in Sapporo/第26回日本遺伝子診療学会大会・第43回日本遺伝カウンセリング学会学術集会合同学術集会
    • Related Report
      2019 Research-status Report
  • [Presentation] NGS解析で診断されたMECP2重複症候群の1家系2019

    • Author(s)
      今泉太一・チョンピンフィー・吉良龍太郎・山本圭子・山本俊至
    • Organizer
      臨床遺伝2019 in Sapporo/第26回日本遺伝子診療学会大会・第43回日本遺伝カウンセリング学会学術集会合同学術集会
    • Related Report
      2019 Research-status Report
  • [Presentation] ALDH7A1の複合ヘテロ変異が同定できたビタミン依存性てんかんの1例2019

    • Author(s)
      柳下友映・山本圭子・小池敬義・那須裕郷・高橋幸利・秋山倫之・永田智・山本俊至
    • Organizer
      臨床遺伝2019 in Sapporo/第26回日本遺伝子診療学会大会・第43回日本遺伝カウンセリング学会学術集会合同学術集会
    • Related Report
      2019 Research-status Report
  • [Presentation] 13番染色体構造異常6例の遺伝子型・表現型相関2019

    • Author(s)
      村松みゆき・チョンピンフィー・吉良龍太郎・山本圭子・岡本伸彦・山本俊至
    • Organizer
      臨床遺伝2019 in Sapporo/第26回日本遺伝子診療学会大会・第43回日本遺伝カウンセリング学会学術集会合同学術集会
    • Related Report
      2019 Research-status Report
  • [Presentation] 超ロングシーケンスによる染色体構造異常の新たなメカニズムの解析2019

    • Author(s)
      柳下友映・山本圭子・今泉太一・恩藤由美子・岡本伸彦・山本俊至
    • Organizer
      日本人類遺伝学会第64回大会
    • Related Report
      2019 Research-status Report
  • [Presentation] 神経発達障害に対するクリニカルシーケンスの診断効率2019

    • Author(s)
      山本俊至・今泉太一・山本圭子・柳下友映・瀬戸俊之・岡本伸彦
    • Organizer
      日本人類遺伝学会第64回大会
    • Related Report
      2019 Research-status Report
  • [Presentation] 重度発達遅滞を示したSATB2を含む2q33.1領域の染色体重複例2019

    • Author(s)
      井上陽子・今泉太一・柳下友映・山本圭子・岡本伸彦・山本俊至
    • Organizer
      日本人類遺伝学会第64回大会
    • Related Report
      2019 Research-status Report
  • [Presentation] ロングリードシーケンサーを用いた複雑な染色体構造異常の切断点解析2019

    • Author(s)
      今泉太一・山本圭子・柳下友映・恩藤由美子・山本俊至
    • Organizer
      日本人類遺伝学会第64回大会
    • Related Report
      2019 Research-status Report
  • [Presentation] MED13遺伝子を含む17q23微細欠失を示した男児例2019

    • Author(s)
      村松みゆき・今泉太一・柳下友映・山本圭子・岡本伸彦・山本俊至
    • Organizer
      日本人類遺伝学会第64回大会
    • Related Report
      2019 Research-status Report
  • [Presentation] NKX2-5が位置する5q35.1領域の中間部欠失を示した3例2019

    • Author(s)
      山本圭子・鈴村宏・岡本伸彦・山本俊至
    • Organizer
      日本人類遺伝学会第64回大会
    • Related Report
      2019 Research-status Report
  • [Presentation] LIS1のde noboスプライシング変異による滑脳症の1例2019

    • Author(s)
      柳下友映, 衛藤薫, 山本圭子, 今泉太一, 永田智, 山本俊至
    • Organizer
      日本人類遺伝学会第64回大会
    • Related Report
      2019 Research-status Report
  • [Presentation] 石灰化をともなう多小脳回をきたしたPallister-Killian症候群2019

    • Author(s)
      遠山潤・小松原孝夫・小林悠・眞柄慎一・放上萌美・中山有美・松井亨・加藤光広・下島圭子・山本俊至
    • Organizer
      第41回日本小児遺伝学会学術集会
    • Related Report
      2018 Research-status Report
  • [Presentation] 15qサブテロメア欠失2症例からの考察2019

    • Author(s)
      柳下友映・山本圭子・今泉太一・恩藤由美子・西恵理子・岡本伸彦・永田智・山本俊至
    • Organizer
      第41回日本小児遺伝学会学術集会
    • Related Report
      2018 Research-status Report
  • [Presentation] デジタルPCRを用いたアレイCGH解析結果の検証2019

    • Author(s)
      今泉太一・山本圭子・山本俊至
    • Organizer
      第41回日本小児遺伝学会学術集会
    • Related Report
      2018 Research-status Report
  • [Presentation] 1p36欠失症候群家族会の活動と本邦における実態2019

    • Author(s)
      山本圭子・柳下友映・村松みゆき・今泉太一・山本俊至
    • Organizer
      第41回日本小児遺伝学会学術集会
    • Related Report
      2018 Research-status Report
  • [Presentation] 高度脳波異常を示したMED13L変異によるてんかん性脳症の1例2018

    • Author(s)
      柳下友映・今泉太一・山本-下島圭子・北原光・今井克美・山本俊至
    • Organizer
      第60回日本小児神経学会学術集会
    • Related Report
      2018 Research-status Report
  • [Presentation] FMR1を含むX染色体微細欠失により過成長と精神運動発達遅滞を来した女児例2018

    • Author(s)
      柳下友映・山本-下島圭子・西川恵里子・岡本伸彦・山本俊至
    • Organizer
      第42回日本遺伝カウンセリング学会学術集会
    • Related Report
      2018 Research-status Report
  • [Presentation] USP7を含む16p13.2領域の欠失を示す知的障害の1例2018

    • Author(s)
      柳下友映・今泉太一・岡本伸彦・山本圭子・山本俊至
    • Organizer
      第58回日本先天異常学会学術集会
    • Related Report
      2018 Research-status Report
  • [Presentation] 多彩な症状を示す1q21.1微細欠失の4例2018

    • Author(s)
      柳下友映・今泉太一・山本圭子・鞁嶋有紀・岡本伸彦・山本俊至
    • Organizer
      日本人類遺伝学会第63回大会
    • Related Report
      2018 Research-status Report
  • [Presentation] OTX2を含む14q22.3q23.1微細欠失を示した両側無眼球症の1例2018

    • Author(s)
      村松みゆき・今泉太一・柳下友映・山本圭子・岡本伸彦・山本俊至
    • Organizer
      日本人類遺伝学会第63回大会
    • Related Report
      2018 Research-status Report
  • [Presentation] 1番染色体UPDによるSZT2ホモ接合変異によって生じたと考えられる重度知的障害症例2018

    • Author(s)
      今泉太一、渡辺基子、下島圭子、熊倉啓、山本俊至
    • Organizer
      第40回日本小児遺伝学会学術集会
    • Related Report
      2017 Research-status Report
  • [Presentation] Proximal 22q13欠失;SHANK3のハプロ不全だけでは症状を説明できない症例について2018

    • Author(s)
      高野梢、下島圭子、岡本伸彦、山本俊至
    • Organizer
      第40回日本小児遺伝学会学術集会
    • Related Report
      2017 Research-status Report
  • [Presentation] WDRハプロ不全によるてんかん症候群;新規1q41q42微細欠失からの考察2018

    • Author(s)
      柳下友映、下島圭子、中野さやか、今井克美、山本俊至
    • Organizer
      第40回日本小児遺伝学会学術集会
    • Related Report
      2017 Research-status Report
  • [Presentation] PURAを含む5q31欠失の新規例2018

    • Author(s)
      下島圭子、岡本伸彦、山本俊至
    • Organizer
      第40回日本小児遺伝学会学術集会
    • Related Report
      2017 Research-status Report
  • [Presentation] X染色体上のゲノムコピー数異常を認めた症例の考察2017

    • Author(s)
      下島圭子、岡本伸彦、白井謙太朗、山本俊至
    • Organizer
      第62回日本人類遺伝学会学術集会
    • Related Report
      2017 Research-status Report
  • [Presentation] 自閉症スペクトラム患者に認められたMEIS2を含む15q14欠失2017

    • Author(s)
      山本俊至、下島圭子、恩藤由美子、岡本伸彦
    • Organizer
      第62回日本人類遺伝学会学術集会
    • Related Report
      2017 Research-status Report
  • [Presentation] 2q23q24微細欠失症候群の患者に認められる発達遅滞の候補遺伝子絞り込み2017

    • Author(s)
      下島圭子、岡本伸彦、山本俊至
    • Organizer
      第57回日本先天異常学会学術集会
    • Related Report
      2017 Research-status Report
  • [Presentation] CTNNA変異の表現型との関連についての考察2017

    • Author(s)
      山本俊至、下島圭子、岡本伸彦、斎藤加代子
    • Organizer
      第24回日本遺伝子診療学会
    • Related Report
      2017 Research-status Report
  • [Presentation] 同胞間で反復して認められた染色体微細構造異常;親世代の低頻度モザイクCNV2017

    • Author(s)
      山本俊至、下島圭子、岡本伸彦、斎藤加代子
    • Organizer
      第41回日本遺伝カウンセリング学会学術集会
    • Related Report
      2017 Research-status Report
  • [Presentation] 網羅的ゲノム解析により発達障害患者に認められたde novo遺伝子変異2017

    • Author(s)
      山本俊至、下島圭子、岡本伸彦
    • Organizer
      第59回日本小児神経学会学術集会
    • Related Report
      2017 Research-status Report
  • [Book] 新遺伝医学やさしい系統講義19講 第5章 染色体の異常を調べる2019

    • Author(s)
      山本圭子(監修:福嶋義光、編集:櫻井晃洋・古庄知己)
    • Total Pages
      340
    • Publisher
      メディカル・サイエンス・インターナショナル
    • ISBN
      9784815701666
    • Related Report
      2019 Research-status Report
  • [Book] 症例でわかる小児神経疾患の遺伝学的アプローチ2019

    • Author(s)
      山本圭子(監修:山本俊至)
    • Total Pages
      200
    • Publisher
      診断と治療社
    • ISBN
      9784787824370
    • Related Report
      2019 Research-status Report

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Published: 2017-04-28   Modified: 2022-01-27  

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