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2011 Fiscal Year Final Research Report

Gene expression analysis for neuronal cells differenciated from iPS cells generated from patients with Down syndrome

Research Project

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Project/Area Number 22890199
Research Category

Grant-in-Aid for Research Activity Start-up

Allocation TypeSingle-year Grants
Research Field Pediatrics
Research InstitutionTokyo Women's Medical University

Principal Investigator

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

Project Period (FY) 2010 – 2011
KeywordsiPS細胞 / ダウン症候群 / 神経細胞機能解析
Research Abstract

In this study, we generated disease specific iPS cells from the patients with Down syndrome. Gene expression analysis identified significant increases of some genes. This may be important clue to reveal neuronal impairments in Down syndrome.

  • Research Products

    (61 results)

All 2012 2011 2010 Other

All Journal Article (28 results) (of which Peer Reviewed: 28 results) Presentation (33 results)

  • [Journal Article] Homozygous c. 14576G> A variant of RNF213 predicts early-onset and severe form of moyamoya disease2012

    • Author(s)
      Shimojima K, 他24名
    • Journal Title

      Neurology

      Volume: 78 Pages: 803-810

    • Peer Reviewed
  • [Journal Article] Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia2012

    • Author(s)
      Shimojima K, 他7名
    • Journal Title

      Brain Dev

      Volume: 34 Pages: 230-233

    • Peer Reviewed
  • [Journal Article] Growth profiles of 34 patients with Wolf-Hirschhorn syndrome2012

    • Author(s)
      Shimojima K, 他1名
    • Journal Title

      J Pediatr Genet

      Volume: 1 Pages: 33-37

    • Peer Reviewed
  • [Journal Article] Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years2012

    • Author(s)
      Shimojima K, 他4名
    • Journal Title

      Am J Med Genet

      Volume: 158A Pages: 220-223

    • Peer Reviewed
  • [Journal Article] Submicroscopic deletion of 12q13 including HOXC gene cluster with skeletal anomalies and global developmental delay2011

    • Author(s)
      Shimojima K, 他4名
    • Journal Title

      Am J Med Genet

      Volume: 155A Pages: 2997-3001

    • Peer Reviewed
  • [Journal Article] Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis2011

    • Author(s)
      Shimojima K, 他3名
    • Journal Title

      J Hum Genet

      Volume: 56 Pages: 810-812

    • Peer Reviewed
  • [Journal Article] Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV2011

    • Author(s)
      Shimojima K, 他3名
    • Journal Title

      Am J Med Genet

      Volume: 155A Pages: 1568-1573

    • Peer Reviewed
  • [Journal Article] Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome2011

    • Author(s)
      Shimojima K, 他2名
    • Journal Title

      Am J Med Genet

      Volume: 155A Pages: 2293-2297

    • Peer Reviewed
  • [Journal Article] Refractory neonatal epilepsy with a de novo duplication of chromosome 2q24.2q24.32011

    • Author(s)
      Shimojima K, 他6名
    • Journal Title

      Epilepsia

      Volume: 52 Pages: e66-69

    • Peer Reviewed
  • [Journal Article] SCN1B is Not Related to Benign Partial Epilepsy in Infancy or Convulsions with Gastroenteritis2011

    • Author(s)
      Shimojima K, 他5名
    • Journal Title

      Neuropediatrics

      Volume: 42 Pages: 135-137

    • Peer Reviewed
  • [Journal Article] 9q22 Deletion-first familial case2011

    • Author(s)
      Shimojima K, 他9名
    • Journal Title

      Orphanet J Rare Dis

      Volume: 6 Pages: 45

    • Peer Reviewed
  • [Journal Article] Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy2011

    • Author(s)
      Shimojima K, 他6名
    • Journal Title

      J Hum Genet

      Volume: 56 Pages: 561-556

    • Peer Reviewed
  • [Journal Article] CDKL5 alterations lead to early epileptic encephalopathy in both genders2011

    • Author(s)
      Shimojima K, 他17名
    • Journal Title

      Epilepsia

      Volume: 52 Pages: 1835-1842

    • Peer Reviewed
  • [Journal Article] A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination2011

    • Author(s)
      Shimojima K, 他6名
    • Journal Title

      Am J Med Genet

      Volume: 155A Pages: 732-736

    • Peer Reviewed
  • [Journal Article] Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome2011

    • Author(s)
      Shimojima K, 他9名
    • Journal Title

      J Med Genet

      Volume: 48 Pages: 117-122

    • Peer Reviewed
  • [Journal Article] Two concurrent chromosomal aberrations involving interstitial deletion in 1q24.2q25.2 and inverted duplication and deletion in 10q26 in a patient with stroke associated with antithrombin deficiency and a patent foramen ovale2011

    • Author(s)
      Shimojima K, 他5名
    • Journal Title

      Am J Med Genet

      Volume: 155A Pages: 215-220

    • Peer Reviewed
  • [Journal Article] Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ62011

    • Author(s)
      Shimojima K, 他5名
    • Journal Title

      Am J Med Genet

      Volume: 155A Pages: 113-119

    • Peer Reviewed
  • [Journal Article] STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome. Result of Japanese cohort study2010

    • Author(s)
      Shimojima K, 他10名
    • Journal Title

      Epilepsia

      Volume: 51 Pages: 2449-2452

    • Peer Reviewed
  • [Journal Article] Altered gene expression in umbilical cord mononuclear cells in preterm infants with periventricular leukomalacia2010

    • Author(s)
      Shimojima K, 他8名
    • Journal Title

      Early Hum Dev

      Volume: 86 Pages: 665-667

    • Peer Reviewed
  • [Journal Article] A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy2010

    • Author(s)
      Shimojima K, 他2名
    • Journal Title

      Am J Med Genet

      Volume: 152A Pages: 2820-2826

    • Peer Reviewed
  • [Journal Article] Genomic copy number variations at 17p13.3 and epileptogenesis2010

    • Author(s)
      Shimojima K, 他8名
    • Journal Title

      Epilepsy Res

      Volume: 89 Pages: 303-309

    • Peer Reviewed
  • [Journal Article] Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome2010

    • Author(s)
      Shimojima K, 他9名
    • Journal Title

      Eur J Med Genet

      Volume: 53 Pages: 159-161

    • Peer Reviewed
  • [Journal Article] Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB62010

    • Author(s)
      Shimojima K, 他7名
    • Journal Title

      Am J Med Genet

      Volume: 152A Pages: 1020-1025

    • Peer Reviewed
  • [Journal Article] A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish2010

    • Author(s)
      Shimojima K, 他8名
    • Journal Title

      J Hum Genet

      Volume: 55 Pages: 155-162

    • Peer Reviewed
  • [Journal Article] Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly2010

    • Author(s)
      Shimojima K, 他16名
    • Journal Title

      Genesis

      Volume: 48 Pages: 233-243

    • Peer Reviewed
  • [Journal Article] Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications2010

    • Author(s)
      Shimojima K, 他16名
    • Journal Title

      Brain Dev

      Volume: 32 Pages: 171-179

    • Peer Reviewed
  • [Journal Article] Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region

    • Author(s)
      Shimojima K, 他7名
    • Journal Title

      Eur J Med Genet

      Volume: (in press)

    • Peer Reviewed
  • [Journal Article] 8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome

    • Author(s)
      Shimojima K, 他12名
    • Journal Title

      Seizure

      Volume: (in press)

    • Peer Reviewed
  • [Presentation] トリオサンプルを用いた先天性疾患のエクソーム解析2011

    • Author(s)
      下島圭子, 他8名
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      千葉
    • Year and Date
      20111110-12
  • [Presentation] 新規微細欠失症候群の確立; 5q31.3 deletion syndrome2011

    • Author(s)
      下島圭子, 他6名
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      千葉
    • Year and Date
      20111110-12
  • [Presentation] Collybistinの機能喪失はてんかんを伴う症候性X連鎖精神発達遅滞の原因となる2011

    • Author(s)
      下島圭子, 他6名
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      千葉
    • Year and Date
      20111110-12
  • [Presentation] Pelizaeus-Merzbacher病患者由来iPS細胞の樹立と病態解析2011

    • Author(s)
      下島圭子, 他8名
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      千葉
    • Year and Date
      20111110-12
  • [Presentation] 14q24.3微細欠失によるEIF2B2のunmasked mutationで発症したVanishing White Metter disease2011

    • Author(s)
      下島圭子, 他7名
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      千葉
    • Year and Date
      20111110-12
  • [Presentation] MECP2領域微細重複の4例2011

    • Author(s)
      下島圭子, 他6名
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      千葉
    • Year and Date
      20111110-12
  • [Presentation] 新規変異を認めたSimpson-Golabi-Behmel Syndromeの一例2011

    • Author(s)
      下島圭子, 他5名
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      千葉
    • Year and Date
      20111110-12
  • [Presentation] CDKL5変異は男児における難治性てんかん脳症にも関連している2011

    • Author(s)
      下島圭子, 他17名
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      千葉
    • Year and Date
      20111110-12
  • [Presentation] Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy2011

    • Author(s)
      Shimojima K, 他6名
    • Organizer
      12th ICHG
    • Place of Presentation
      Montreal
    • Year and Date
      20111011-15
  • [Presentation] Skeletal anomalies and severe language disorder with submicroscopic deletion in 12q13 including HOXC cluster2011

    • Author(s)
      Shimojima K, 他2名
    • Organizer
      12th ICHG
    • Place of Presentation
      Montreal
    • Year and Date
      20111011-15
  • [Presentation] A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination2011

    • Author(s)
      Shimojima K, 他6名
    • Organizer
      12th ICHG
    • Place of Presentation
      Montreal
    • Year and Date
      20111011-15
  • [Presentation] 小児てんかん脳症におけるCDKL5の包括的解析2011

    • Author(s)
      下島圭子, 他9名
    • Organizer
      第114回日本小児科学会学術集会
    • Place of Presentation
      東京
    • Year and Date
      20110812-14
  • [Presentation] Xq11.1に位置するARHGEF9遺伝子のnullisomyは精神遅滞・てんかんの原因となる2011

    • Author(s)
      下島圭子, 他3名
    • Organizer
      第114回日本小児科学会学術集会
    • Place of Presentation
      東京
    • Year and Date
      20110812-14
  • [Presentation] CDKL5微小欠損に肺炎球菌感染症を反復したIgG2サブクラス欠損症の1例2011

    • Author(s)
      下島圭子, 他8名
    • Organizer
      第114回日本小児科学会学術集会
    • Place of Presentation
      東京
    • Year and Date
      20110812-14
  • [Presentation] 中枢神経病態解析を目指したダウン症候群患者由来iPS細胞の樹立2011

    • Author(s)
      下島圭子, 他1名
    • Organizer
      第114回日本小児科学会学術集会
    • Place of Presentation
      東京
    • Year and Date
      20110812-14
  • [Presentation] Pelizaeus-Merzbacher病患者由来iPS細胞の樹立と病態解析2011

    • Author(s)
      下島圭子, 他8名
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      横浜
    • Year and Date
      20110526-28
  • [Presentation] CDKL5遺伝子異常に伴うてんかんの早期診断の手がかり2011

    • Author(s)
      下島圭子, 他11名
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      横浜
    • Year and Date
      20110526-28
  • [Presentation] Schinzel-Giedion症候群の原因遺伝子SETBP1のハプロ不全は非特異的な精神発達遅滞の原因となる2011

    • Author(s)
      下島圭子, 他2名
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      横浜
    • Year and Date
      20110526-28
  • [Presentation] 1p36欠失症候群の本邦における実態と欠失範囲の同定2011

    • Author(s)
      下島圭子, 他3名
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      横浜
    • Year and Date
      20110526-28
  • [Presentation] 5q31.3新規微細欠失症候群2011

    • Author(s)
      下島圭子, 他6名
    • Organizer
      第34回日本小児遺伝学会学術集会
    • Place of Presentation
      横浜
    • Year and Date
      2011-08-11
  • [Presentation] Prader-Willi症候群とソトス症候群の合併例2010

    • Author(s)
      下島圭子, 他4名
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      大宮
    • Year and Date
      20101125-27
  • [Presentation] 複数のde novoゲノムコピー数異常が同時に生じることは稀ではない?2010

    • Author(s)
      下島圭子, 他3名
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      大宮
    • Year and Date
      20101125-27
  • [Presentation] TULIP1のハプロ不全は、発達遅滞と難治性てんかんの原因となる2010

    • Author(s)
      下島圭子, 他12名
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      大宮
    • Year and Date
      20101125-27
  • [Presentation] 17番染色体p13.1領域の微細欠失とゼブラフィッシュによるGABARAP機能解析2010

    • Author(s)
      下島圭子, 他8名
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      大宮
    • Year and Date
      20101125-27
  • [Presentation] Williams症候群責任領域近傍のYWHAGは点頭てんかんと心肥大の原因となり得る2010

    • Author(s)
      下島圭子, 他9名
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      大宮
    • Year and Date
      20101125-27
  • [Presentation] A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish2010

    • Author(s)
      Shimojima K, 他8名
    • Organizer
      The 60th Annual Meeting ASHG
    • Place of Presentation
      Washington DC, USA
    • Year and Date
      20101102-06
  • [Presentation] TULIP1 haploinsufficiency with brain development delay2010

    • Author(s)
      Shimojima K, 他12名
    • Organizer
      The 60th Annual Meeting ASHG
    • Place of Presentation
      Washington DC, USA
    • Year and Date
      20101102-06
  • [Presentation] ダウン症候群責任領域のハプロ不全による臨床症状2010

    • Author(s)
      下島圭子, 他3名
    • Organizer
      第52回日本小児神経学会大会
    • Place of Presentation
      福岡
    • Year and Date
      20100520-22
  • [Presentation] TULIP1のハプロ不全は、発達遅滞と難治性てんかんの原因となる2010

    • Author(s)
      下島圭子, 他8名
    • Organizer
      第52回日本小児神経学会大会
    • Place of Presentation
      福岡
    • Year and Date
      20100520-22
  • [Presentation] Atypical benign partial epilepsy様のてんかんを呈した8p欠失/9p重複の2例:てんかん責任領域の検討2010

    • Author(s)
      下島圭子, 他12名
    • Organizer
      第52回日本小児神経学会大会
    • Place of Presentation
      福岡
    • Year and Date
      20100520-22
  • [Presentation] 9q34欠失症候群5例の臨床研究2010

    • Author(s)
      下島圭子, 他2名
    • Organizer
      第52回日本小児神経学会大会
    • Place of Presentation
      福岡
    • Year and Date
      20100520-22
  • [Presentation] 点頭てんかんを発症したWilliams症候群の2症例2010

    • Author(s)
      下島圭子, 他8名
    • Organizer
      第52回日本小児神経学会大会
    • Place of Presentation
      福岡
    • Year and Date
      20100520-22
  • [Presentation] 染色体検査における事前説明の重要性に関する考察:娘の染色体検査結果の受容が困難であった母親の事例より2010

    • Author(s)
      下島圭子, 他3名
    • Organizer
      第34回日本遺伝カウンセリング学会学術集会
    • Place of Presentation
      東京
    • Year and Date
      2010-05-28

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Published: 2013-07-31  

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