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

• Project/Area Number: 22890199
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Single-year Grants
• Research Field: Pediatrics
• Research Institution: Tokyo 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
• Project Status: Completed (Fiscal Year 2011)
• Budget Amount: ¥3,068,000 (Direct Cost: ¥2,360,000、Indirect Cost: ¥708,000); Fiscal Year 2011: ¥1,469,000 (Direct Cost: ¥1,130,000、Indirect Cost: ¥339,000); Fiscal Year 2010: ¥1,599,000 (Direct Cost: ¥1,230,000、Indirect Cost: ¥369,000)
• Keywords: iPS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

• [Journal Article] Homozygous c. 14576G> A variant of RNF213 predicts early-onset and severe form of moyamoya disease (2012)
  • 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 dyskinesia (2012)
  • Author(s): Shimojima K, 他7名
  • Journal Title: Brain Dev Volume: 34 Pages: 230-233
  • NAID: 10031050241
  • Peer Reviewed
• [Journal Article] Growth profiles of 34 patients with Wolf-Hirschhorn syndrome (2012)
  • 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 years (2012)
  • Author(s): Shimojima K, 他4名
  • Journal Title: Am J Med Genet Volume: 158A Pages: 220-223
  • Peer Reviewed
• [Journal Article] 8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome (2012)
  • Author(s): Nakayama T, et al
  • Journal Title: Seizure Volume: (in press) Issue: 4 Pages: 295-299
  • DOI: 10.1016/j.seizure.2012.01.002
  • Peer Reviewed
• [Journal Article] Homozygous c. 14576G> A Variant of<I> RNF213</I> Predicts Early-Onset and Severe Form of Moyamoya Disease (2012)
  • Author(s): Miyatake S, Miyake N, Touho H, Nishimura-T, A, Kondo Y, Okada ; I, Tsurusaki ; Y, Doi H, Sakai H, Saitsu ; H, Shimojima K, Yamamoto T, Higurashi M, Kawahara, N, Kawauchi, H, Nagasaka, K, Okamoto N, Mori, T, Koyano S, Kuroiwa Y, Taguri M, Morita S, Matsuba S, Kure S, Matsumoto N
  • Journal Title: Neurology Volume: 78(11) Issue: 11 Pages: 803-10
  • DOI: 10.1212/wnl.0b013e318249f71f
  • Peer Reviewed
• [Journal Article] Growth profiles of 34 patients with Wolf-Hirschhorn syndrome (2012)
  • Author(s): Shimojima, K., et al
  • Journal Title: J Ped 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 years (2012)
  • Author(s): Takahashi I, et al
  • Journal Title: Am J Med Genet A Volume: 158A Issue: 1 Pages: 220-223
  • DOI: 10.1002/ajmg.a.34382
  • Peer Reviewed
• [Journal Article] Submicroscopic deletion of 12q13 including HOXC gene cluster with skeletal anomalies and global developmental delay (2011)
  • 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 analysis (2011)
  • Author(s): Shimojima K, 他3名
  • Journal Title: J Hum Genet Volume: 56 Pages: 810-812
  • NAID: 10030661761
  • Peer Reviewed
• [Journal Article] Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV (2011)
  • 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 syndrome (2011)
  • 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 2q24.2q24.3 (2011)
  • Author(s): Shimojima K, 他6名
  • Journal Title: Epilepsia Volume: 52
  • Peer Reviewed
• [Journal Article] SCN1B is Not Related to Benign Partial Epilepsy in Infancy or Convulsions with Gastroenteritis (2011)
  • Author(s): Shimojima K, 他5名
  • Journal Title: Neuropediatrics Volume: 42 Pages: 135-137
  • Peer Reviewed
• [Journal Article] 9q22 Deletion-first familial case (2011)
  • Author(s): Shimojima K, 他9名
  • Journal Title: Orphanet J Rare Dis Volume: 6 Pages: 45-45
  • Peer Reviewed
• [Journal Article] Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy (2011)
  • Author(s): Shimojima K, 他6名
  • Journal Title: J Hum Genet Volume: 56 Pages: 561-556
  • NAID: 10030660361
  • Peer Reviewed
• [Journal Article] CDKL5 alterations lead to early epileptic encephalopathy in both genders (2011)
  • 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 myelination (2011)
  • 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 syndrome (2011)
  • 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 ovale (2011)
  • 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 KCNJ6 (2011)
  • Author(s): Shimojima K, 他5名
  • Journal Title: Am J Med Genet Volume: 155A Pages: 113-119
  • Peer Reviewed
• [Journal Article] Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6 (2011)
  • Author(s): Yamamoto, T., et al
  • Journal Title: Am J Med Genet A Volume: 155A Issue: 1 Pages: 113-119
  • DOI: 10.1002/ajmg.a.33735
  • Peer Reviewed
• [Journal Article] Submicroscopic deletion of 12q13 including HOXC gene cluster with skeletal anomalies and global developmental delay (2011)
  • Author(s): Okamoto, N., et al
  • Journal Title: Am J Med Genet A Volume: 155A Issue: 12 Pages: 2997-3001
  • DOI: 10.1002/ajmg.a.34324
  • Peer Reviewed
• [Journal Article] Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome (2011)
  • Author(s): Shimojima, K., et al
  • Journal Title: Am J Med Genet A Volume: 155A Issue: 9 Pages: 2293-2297
  • DOI: 10.1002/ajmg.a.34164
  • Peer Reviewed
• [Journal Article] Refractory neonatal epilepsy with a de novo duplication of chromosome 2q24.2q24.3 (2011)
  • Author(s): Okumura, A., et al
  • Journal Title: Epilepsia Volume: 52 Issue: 7 Pages: e66-e69
  • DOI: 10.1111/j.1528-1167.2011.03139.x
  • Peer Reviewed
• [Journal Article] SCN1B is not related to benign partial epilepsy in infancy or convulsions with gastroenteritis (2011)
  • Author(s): Yamashita, S., et al
  • Journal Title: Neuropediatrics Volume: 42 Issue: 04 Pages: 135-137
  • DOI: 10.1055/s-0031-1285837
  • Peer Reviewed
• [Journal Article] 9q22 Deletion--first familial case (2011)
  • Author(s): Siggberg, L., et al
  • Journal Title: Orphanet J Rare Dis Volume: 6 Issue: 1 Pages: 45-45
  • DOI: 10.1186/1750-1172-6-45
  • Peer Reviewed
• [Journal Article] Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy (2011)
  • Author(s): Shimojima, K., et al
  • Journal Title: J Hum Genet Volume: 56 Issue: 8 Pages: 561-565
  • DOI: 10.1038/jhg.2011.58
  • Peer Reviewed
• [Journal Article] A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination (2011)
  • Author(s): Shimojima, K., et al
  • Journal Title: Am J Med Genet A Volume: 155A Issue: 4 Pages: 732-736
  • DOI: 10.1002/ajmg.a.33891
  • 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 for amen ovale (2011)
  • Author(s): Kibe, T., et al
  • Journal Title: Am J Med Genet A Volume: 155A Issue: 1 Pages: 215-220
  • DOI: 10.1002/ajmg.a.33786
  • Peer Reviewed
• [Journal Article] てんかん診療最前線アレイCGH法新技術によるてんかんの遺伝子研究 (2011)
  • Author(s): 山本俊至, ら
  • Journal Title: Epilepsy Volume: 5 Pages: 47-52
  • NAID: 40018856476
• [Journal Article] ゲノムコピー数異常と疾患iPS細胞を用いた病態解析 (2011)
  • Author(s): 山本俊至, ら
  • Journal Title: 東京女子医科大学雑誌 Volume: 81 Pages: 215-219
  • Peer Reviewed
• [Journal Article] 【神経系におけるiPS細胞iPS細胞の活用も含めた神経機能修復の現状と将来】iPS細胞の小児神経疾患の病態解析への応用 (2011)
  • Author(s): 下島圭子, ら
  • Journal Title: 脳21 Volume: 14 Pages: 218-223
• [Journal Article] Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. (2011)
  • Author(s): Filges I, Shimojima K, Okamoto N, Rothlisberger B, Weber P, Huber AR, Nishizawa T, Datta AN, Miny P, Yamamoto T.
  • 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 ovale. (2011)
  • Author(s): Kibe T, Mori Y, Okanishi T, Shimojima K, Yokochi K, Yamamoto T.
  • 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 KCNJ6. (2011)
  • Author(s): Yamamoto T, Shimojima K, Nishizawa T, Matsuo M, Ito M, Imai K
  • 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 study (2010)
  • 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 leukomalacia (2010)
  • 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 epilepsy (2010)
  • 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 epileptogenesis (2010)
  • 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 syndrome (2010)
  • 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 ITGB6 (2010)
  • 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 zebrafish (2010)
  • Author(s): Shimojima K, 他8名
  • Journal Title: J Hum Genet Volume: 55 Pages: 155-162
  • NAID: 10030733965
  • Peer Reviewed
• [Journal Article] Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly (2010)
  • 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 duplications (2010)
  • Author(s): Shimojima K, 他16名
  • Journal Title: Brain Dev Volume: 32 Pages: 171-179
  • NAID: 10027490563
  • Peer Reviewed
• [Journal Article] STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome-Result of Japanese cohort study. (2010)
  • Author(s): Otsuka M, Oguni H, Liang J-S, Ikeda H, Imai K, Hirasawa K, Imai K, Tachikawa E, Shimojima K, Osawa M, Yamamoto T.
  • 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 leukomalacia. (2010)
  • Author(s): Okumura A, Yamamoto T, Kidokoro H, Kato T, Kubota T, Shoji H, Sato H, Shimojima K, Shimizu T.
  • 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 epilepsy. (2010)
  • Author(s): Shimojima K, Imai K, Yamamoto T.
  • Journal Title: Am J Med Genet Volume: 152A Pages: 2820-2826
  • Peer Reviewed
• [Journal Article] Genomic copy number variations at 17p13.3 and epileptogenesis. (2010)
  • Author(s): Shimojima K, Sugiura C, Takahashi H, Ikegami M, Takahashi Y, Ohno K, Matsuo M, Saito K, Yamamoto T.
  • Journal Title: Epilepsy Res Volume: 89 Pages: 303-309
  • Peer Reviewed
• [Journal Article] Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome. (2010)
  • Author(s): Inage E, Suzuki M, Minowa K, Akimoto N, Hisata K, Shoji H, Okumura A, Shimojima K, Shimizu T, Yamamoto T.
  • 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 ITGB6. (2010)
  • Author(s): Takatsuki S, Nakamura R, Haga Y, Mitsui K, Hashimoto T, Shimojima K, Saji T, Yamamoto T.
  • 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 zebrafish. (2010)
  • Author(s): Komoike Y, Shimojima K, LiangJ-S, Fujii H, Maegaki Y, Osawa M, Fujii S, Higashinakagawa T, Yamamoto T.
  • Journal Title: J Hum Genet Volume: 55 Pages: 155-162
  • NAID: 10030733965
  • Peer Reviewed
• [Journal Article] Zebrafish gene knockdowns implyroles for human YWHAG in infantile spasms and cardiomegaly. (2010)
  • Author(s): Komoike Y, Fujii K, Nishimura A, Hiraki Y, Hayashidani M, Shimojima K, Nishizawa T, Higashi K, Yasukawa K, Saitsu H, Miyake N, Mizuguchi T, Matsumoto N, Osawa M, Kohno Y, Higashinakagawa T, Yamamoto T.
  • 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 duplications. (2010)
  • Author(s): Shimojima K, Inoue T, Hoshino A, Kakiuchi S, Watanabe Y, Sasaki M, Nishimura A, Takeshita-Yanagisawa A, Tajima G, Ozawa H, Kubota M, Tohyama J, Sasaki M, Oka A, Saito K, Osawa M, Yamamoto T.
  • Journal Title: Brain Dev Volume: 32 Pages: 171-179
  • NAID: 10027490563
  • Peer Reviewed
• [Journal Article] Co-occurrence of Prader-Willi and Sotos syndromes. (2010)
  • Author(s): Okamoto N, Akimaru N, Matsuda K, Suzuki Y, Shimojima K, Yamamoto T.
  • Journal Title: Am J Med Genet Volume: 152A Pages: 2103-2109
  • Peer Reviewed
• [Journal Article] アレイCGH法:新技術によるてんかんの遺伝子研究 (2010)
  • Author(s): 山本俊至、下島圭子
  • Journal Title: Epilepsy Volume: 42 Pages: 138-143
• [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
• [Journal Article] Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region
  • Author(s): Shimojima K, et al
  • Journal Title: Eur J Med Genet Volume: (in press)
  • Peer Reviewed
• [Journal Article] A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination
  • Author(s): Shimojima K Isidor B, Le Caignec C, Kondo A, Sakata S, Ohno K, Yamamoto T.
  • Journal Title: Am J Med Genet Volume: (印刷中)
  • Peer Reviewed
• [Journal Article] ゲノムコピー数異常と疾患iPS細胞を用いた病態解析
  • Author(s): 山本俊至、下島圭子
  • Journal Title: 東京女子医科大学雑誌 Volume: (印刷中)
  • Peer Reviewed
• [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] 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
• [Presentation] 新規微細欠失症候群の確立; 5q31.3 deletion syndrome (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
• [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
• [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
• [Presentation] 14q24.3微細欠失によるEIF2B2のunmasked mutationで発症したVanishing White Metter disease (2011)
  • 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
• [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
• [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
• [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
• [Presentation] Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy (2011)
  • Author(s): Shimojima K, 他6名
  • Organizer: 12th ICHG
  • Place of Presentation: Montreal
• [Presentation] Skeletal anomalies and severe language disorder with submicroscopic deletion in 12q13 including HOXC cluster (2011)
  • Author(s): Shimojima K, 他2名
  • Organizer: 12th ICHG
  • Place of Presentation: Montreal
• [Presentation] A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination (2011)
  • Author(s): Shimojima K, 他6名
  • Organizer: 12th ICHG
  • Place of Presentation: Montreal
• [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
• [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
• [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
• [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
• [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
• [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
• [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
• [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
• [Presentation] Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy (2011)
  • Author(s): Yamamoto T, et al
  • Organizer: 12th International Congress of Human Genetics
  • Place of Presentation: Montreal
• [Presentation] Skeletal anomalies and severe language disorder with submicroscopic deletion in 12q13 including HOXC cluster (2011)
  • Author(s): Okamoto N, et al
  • Organizer: 12th International Congress of Human Genetics
  • Place of Presentation: Montreal
• [Presentation] A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination (2011)
  • Author(s): Shimojima K, et al
  • Organizer: 12th International Congress of Human Genetics
  • Place of Presentation: Montreal
• [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, ら
  • Organizer: 第53回日本小児神経学会総会
  • Place of Presentation: 東京
• [Presentation] 小児てんかん脳症におけるCDKL5の包括的解析 (2011)
  • Author(s): 山本俊至, ら
  • Organizer: 第53回日本小児神経学会総会
  • Place of Presentation: 東京
• [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): 山本俊至, ら
  • Organizer: 第53回日本小児神経学会総会
  • Place of Presentation: 東京
• [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): 山本俊至, ら
  • Organizer: 第53回日本小児神経学会総会
  • Place of Presentation: 東京
• [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): 今井克美, ら
  • Organizer: 第53回日本小児神経学会総会
  • Place of Presentation: 東京
• [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, ら
  • Organizer: 第114回日本小児科学会
  • Place of Presentation: 東京
• [Presentation] 小児てんかん脳症におけるCDKL5の包括的解析 (2011)
  • Author(s): 山本俊至, ら
  • Organizer: 第114回日本小児科学会
  • Place of Presentation: 東京
• [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): 七字美延, ら
  • Organizer: 第114回日本小児科学会
  • Place of Presentation: 東京
• [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): 那須裕郷, ら
  • Organizer: 第114回日本小児科学会
  • Place of Presentation: 東京
• [Presentation] 新規微細欠失症候群の確立;5q31.3 deletion syndrome (2011)
  • Author(s): 下島圭子, ら
  • Organizer: 第56回日本人類遺伝学会
  • Place of Presentation: 千葉
• [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): 山本俊至, ら
  • Organizer: 第56回日本人類遺伝学会
  • Place of Presentation: 千葉
• [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): 山本俊至, ら
  • Organizer: 第56回日本人類遺伝学会
  • Place of Presentation: 千葉
• [Presentation] 14q24.3微細欠失によるEIF2B2のunmasked mutationで発症したVanishing White Metter disease (2011)
  • Author(s): 島田姿野, ら
  • Organizer: 第56回日本人類遺伝学会
  • Place of Presentation: 千葉
• [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, ら
  • Organizer: 第56回日本人類遺伝学会
  • Place of Presentation: 千葉
• [Presentation] 新規変異を認めたSimpson-Golabi-Behmel Syndromeの一例 (2011)
  • Author(s): 西恵理子, ら
  • Organizer: 第56回日本人類遺伝学会
  • Place of Presentation: 千葉
• [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): 菅原みどり, ら
  • Organizer: 第56回日本人類遺伝学会
  • Place of Presentation: 千葉
• [Presentation] MECP2領域微細重複の4例 (2011)
  • Author(s): 島田姿野, ら
  • Organizer: 第56回日本人類遺伝学会
  • Place of Presentation: 千葉
• [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
• [Presentation] アレイCGH解析で診断に至ったJacobsen症候群の1例 (2010)
  • Author(s): 高橋郁子, 高橋勉, 澤田賢一, 下島圭子, 山本俊至
  • Organizer: 第33回日本小児遺伝学会学術集会
  • Place of Presentation: 盛岡
  • Year and Date: 2010-04-22
• [Presentation] 6番染色体長腕中間部欠失を認めた3例Prader-Willi like phenotypeの責任領域の検討 (2010)
  • Author(s): 下島圭子, 岡本伸彦, 益山龍雄, 荒井康裕, 山本俊至
  • Organizer: 第33回日本小児遺伝学会学術集会
  • Place of Presentation: 盛岡
  • Year and Date: 2010-04-22
• [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
• [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
• [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
• [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
• [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
• [Presentation] A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish (2010)
  • Author(s): Shimojima K, 他8名
  • Organizer: The 60th Annual Meeting ASHG
  • Place of Presentation: Washington DC, USA
• [Presentation] TULIP1 haploinsufficiency with brain development delay (2010)
  • Author(s): Shimojima K, 他12名
  • Organizer: The 60th Annual Meeting ASHG
  • Place of Presentation: Washington DC, USA
• [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
• [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
• [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
• [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
• [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
• [Presentation] Atypical benign partial epilepsy様のてんかんを呈した8p欠失/重複の2例 てんかん責任領域の検討 (2010)
  • Author(s): 中山東城, 青天目信, 中川栄二, 斎藤義朗, 下島圭子, 山本俊至, 奥村恵子, 藤江弘美, 植松貢, 小牧宏文, 須貝研司, 佐々木征行
  • Organizer: 第52回日本小児神経学会総会
  • Place of Presentation: 福岡
• [Presentation] 9q34欠失症候群5例の臨床研究 (2010)
  • Author(s): 岡本伸彦, 山本俊至, 下島圭子.
  • Organizer: 第52回日本小児神経学会総会
  • Place of Presentation: 福岡
• [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, 遠山潤, 大津真優, 中川栄二, 後藤雄一, 大野耕策, 小国弘量, 大澤真木子, 山本俊至
  • Organizer: 第52回日本小児神経学会総会
  • Place of Presentation: 福岡
• [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): 山本俊至, 下島圭子, 伊藤昌弘, 今井克美
  • Organizer: 第52回日本小児神経学会総会
  • Place of Presentation: 福岡
• [Presentation] 点頭てんかんを発症したWilliams症候群の2症例 (2010)
  • Author(s): 向田壮一, 今井克美, 下島圭子, 山本俊至, 池上真理子, 池田浩子, 高山留美子, 最上友紀子, 高橋幸利
  • Organizer: 第52回日本小児神経学会総会
  • Place of Presentation: 福岡
• [Presentation] 染色体検査における事前説明の重要性に関する考察 G-band法でX染色体構造異常を指摘された女児例の遺伝カウンセリングから (2010)
  • Author(s): 下島圭子, 山本俊至, 浦野真理, 齋藤加代子
  • 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
• [Presentation] 軽症胃腸炎に伴うけいれん患者におけるSCN1B遺伝子解析 (2010)
  • Author(s): 山下進太郎, 山本俊至, 下島圭子, 奥村彰久, 大友義之, 新島新一
  • Organizer: 第44回日本てんかん学会
  • Place of Presentation: 岡山
• [Presentation] CDKL5遺伝子異常を有する乳児早期発症てんかんの検討発作型と脳波について (2010)
  • Author(s): 大谷早苗, 今井克美, 高橋宏佳, 高山留美子, 最上友紀子, 大谷英之, 池田浩子, 重松秀夫, 美根潤, 高橋幸利, 下島圭子, 山本俊至, 井上有史
  • Organizer: 第44回日本てんかん学会
  • Place of Presentation: 岡山
• [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): 蒋池勇太, 下島圭子, 梁昭鉱, 藤井裕士, 前垣義弘, 大澤真木子, 藤井早紀子, 東中川徹, 山本俊至
  • Organizer: 日本人類遺伝学会第55回大会
  • Place of Presentation: さいたま
• [Presentation] TUHP1のハプロ不全は精神発達遅滞とてんかんの原因となり得る (2010)
  • Author(s): 王島圭子, 蒋池勇太, 遠山潤, Paez MarcoT, 中川栄二, 後藤雄一, 大野耕策, 高橋苑子, 大津真優, 小国弘量, 大澤真木子, 東中川徹, 山本俊至
  • Organizer: 日本人類遺伝学会第55回大会
  • Place of Presentation: さいたま
• [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): 山本俊至, 下島圭子, 木部哲也, 横地健治
  • Organizer: 日本人類遺伝学会第55回大会
  • Place of Presentation: さいたま
• [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): 蒋池勇太, 下島圭子, 藤井克則, 東浩二, 安川久美, 河野陽一, 大澤真木子, 東中川徹, 山本俊至
  • Organizer: 日本人類遺伝学会第55回大会
  • Place of Presentation: さいたま
• [Presentation] Prader-Willi症候群とSotos症候群の合併例 (2010)
  • Author(s): 岡本伸彦, 秋丸憲子, 松田圭子, 下島圭子, 山本俊至
  • Organizer: 日本人類遺伝学会第55回大会
  • Place of Presentation: さいたま
• [Presentation] ジストロフィン遺伝子を含む6-Mbの欠失を認めたXp21隣接遺伝子症候群の1例 (2010)
  • Author(s): 渡辺美緒, 椎原隆, 片山綾子, 小牧宏文, 下島圭子, 山本俊至
  • Organizer: 日本人類遺伝学会第55回大会
  • Place of Presentation: さいたま
• [Presentation] TULIP1 (RALGAPA1) haploinsufficiency with brain development delay (2010)
  • Author(s): K.Shimojima, Y.Komoike, J.Tohyama, S.Takahashi, M.Paez, E.Nakagawa, Y.Goto, K.Ohno, M.Ohtsu, H.Oguni, M.Osawa, T.Higashinakagawa, T.Yamamoto.
  • Organizer: 60th Annual Meeting of American Society of Human Genetics
  • Place of Presentation: Washington DC
• [Presentation] A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish. (2010)
  • Author(s): T.Yamamoto, Y.Komoike, K.Shimojima, J-S.Liang, Y.Fujii, Y.Maegaki, M.Osawa, S.Fujii, T.Higashinakagawa
  • Organizer: 60th Annual Meeting of American Society of Human Genetics
  • Place of Presentation: Washington DC
• [Presentation] Failure of spermatogenesis in distal Xp nullisomy might be associated with miss-conjunction of sex chromosomes. (2010)
  • Author(s): Y.Kido, S.Sakazume, K.Obata, N.Murakami, Y.Ooto, K.Shimojima, T.Yamamoto, T.Nagai
  • Organizer: 60th Annual Meeting of American Society of Human Genetics
  • Place of Presentation: Washington DC