elucidation of a mechanism of developmental disorder caused genome copy number aberration
Project/Area Number |
24791090
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Research Category |
Grant-in-Aid for Young Scientists (B)
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Allocation Type | Multi-year Fund |
Research Field |
Pediatrics
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Research Institution | Tokyo Women's Medical University |
Principal Investigator |
Shimojima Keiko 東京女子医科大学, 医学部, 特任助教 (30578935)
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Project Period (FY) |
2012-04-01 – 2017-03-31
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Project Status |
Completed (Fiscal Year 2016)
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Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2015: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2014: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2013: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2012: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
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Keywords | iPS細胞 / 発達障害 / 神経細胞遊走障害 / ニューロン / シナプス / iPS細胞 |
Outline of Final Research Achievements |
In this study, we generated disease-specific induced pluripotent stem cells (iPSCs) from patients with developmental disorder whose genetic causes were identified, and we established neuronal differentiation model. We showed that disease-specific iPSCs showed abnormal neurite extension, loss of density of spine number, reduced neuronal action potential. Furthermore, we newly identified genomic causes of patients with developmental disorder by next generation sequencing.
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Report
(6 results)
Research Products
(103 results)
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[Journal Article] Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson-Golabi-Behmel syndrome.2016
Author(s)
Shimojima K, Ondo Y, Nishi E, Mizuno S, Ito M, Ioi A, Shimizu M, Sato M, Inoue M, Okamoto N, Yamamoto T.
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Journal Title
Hum Genome Var.
Volume: Oct 13;3
Issue: 1
Pages: 16033-16033
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations2016
Author(s)
Hamatani M, Jingami N, Tsurusaki Y, Shimada S, Shimojima K, Asada-Utsugi M, Yoshinaga K, Uemura N, Yamashita H, Uemura K, Takahashi R, Matsumoto N, Yamamoto T
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Journal Title
J Hum Genet
Volume: 61
Issue: 10
Pages: 899-902
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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[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.
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Journal Title
Eur J Med Genet.
Volume: 59(11)
Issue: 11
Pages: 559-563
DOI
Related Report
Peer Reviewed / Acknowledgement Compliant
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[Journal Article] 7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.2016
Author(s)
Shimojima K, Narai S, Togawa M, Doumoto T, Sangu N, Vanakker OM, de Paepe A, Edwards M, Whitehall J, Brescianini S, Petit F, Andrieux J, Yamamoto T.
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Journal Title
Eur J Med Genet.
Volume: 59(10)
Issue: 10
Pages: 502-516
DOI
Related Report
Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
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[Journal Article] Detailed analysis of 26 cases of 1q partial duplication/triplication 1 syndrome.2016
Author(s)
Watanabe S, Shimizu K, Ohashi H, Kosaki R, Okamoto N, Shimojima K, Yamamoto T, Chinen Y, Mizuno S, Dowa Y, Shiomi N, Toda Y, Tashiro K, Shichijo K, Minatozaki K, Aso S, Minagawa K, Hiraki Y, Shimokawa O, Matsumoto T, Fukuda M, Moriuchi H, Yoshiura K, Kondoh T.
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Journal Title
Am J Med Genet A
Volume: 170A
Issue: 4
Pages: 908-917
DOI
Related Report
Peer Reviewed
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[Journal Article] Novel compound heterozygous LIAS mutations cause glycine encephalopathy2015
Author(s)
Tsurusaki Y, Tanaka R, Shimada S, Shimojima K, Shiina M, Nakashima M, Saitsu H, Miyake N, Ogata K, Yamamoto T, Matsumoto N
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Journal Title
J Hum Genet
Volume: 60(10)
Issue: 10
Pages: 631-635
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease.2015
Author(s)
Shimada S, Shimojima K, Sangu N, Hoshino A, Hachiya Y, Ohto T, Hashi Y, Nishida K, Mitani M, Kinjo S, Tsurusaki Y, Matsumoto N, Morimoto M, Yamamoto T.
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Journal Title
Brain Dev.
Volume: 37(10)
Issue: 10
Pages: 960-966
DOI
Related Report
Peer Reviewed
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[Journal Article] Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications.2015
Author(s)
Shimada S, Shimojima K, Okamoto N, Sangu N, Hirasawa K, Matsuo M, Ikeuchi M, Shimakawa S, Shimizu K, Mizuno S, Kubota M, Adachi M, Saito Y, Tomiwa K, Haginoya K, Numabe H, Kako Y, Hayashi A, Hiraki Y, Minami K, Watanabe K, Miura K, Chiyonobu T, Imai K, Maegaki Y, Nagata S, Kosaki K, Yamamoto T, et al.
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Journal Title
Brain Dev
Volume: 37
Issue: 5
Pages: 515-526
DOI
Related Report
Peer Reviewed
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[Journal Article] Single Nucleotide Variations in CLCN6 Identified in Patients with Benign Partial Epilepsies in Infancy and/or Febrile Seizures.2015
Author(s)
Yamamoto T, Shimojima K, Sangu N, Komoike Y, Ishii A, Abe S, Yamashita S, Imai K, Kubota T, Fukasawa T, Okanishi T, Enoki H, Tanabe T, Saito A, Furukawa T, Shimizu T, Milligan CJ, Petrou S, Heron SE, Dibbens LM, Hirose S, Okumura A.
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Journal Title
PLoS ONE
Volume: 10(3)
Issue: 3
Pages: e0118946-e0118946
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities.2014
Author(s)
Yamamoto T, Wilsdon A, Joss S, Isidor B, Erlandsson A, Suri M, Sangu N, Shimada S, Shimojima K, Le Caignec C, Samuelsson L, Stefanova M.
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Journal Title
J Hum Genet.
Volume: in press
Issue: 6
Pages: 300-306
DOI
Related Report
Peer Reviewed
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[Journal Article] Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA.2014
Author(s)
Yamamoto T, Mencarelli MA, Di Marco C, Mucciolo M, Vascotto M, Balestri P, Gérard M, Mathieu-Dramard M, Andrieux J, Breuning M, Hoffer MJ, Ruivenkamp CA, Shimada S, Sangu N, Shimojima K, Umezu R, Kawame H, Matsuo M, Saito K, Renieri A, Mari F.
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Journal Title
Eur J Med Genet.
Volume: in press
Issue: 4
Pages: 163-168
DOI
Related Report
Peer Reviewed
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[Journal Article] Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement.2013
Author(s)
Eto K, Sakai N, Shimada S, Shioda M, Ishigaki K, Hamada Y, Shinpo M, Azuma J, Tominaga K, Shimojima K, Ozono K, Osawa M, Yamamoto T.
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Journal Title
Am J Med Genet A.
Volume: 161A(12)
Issue: 12
Pages: 3049-3056
DOI
Related Report
Peer Reviewed
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[Journal Article] Microdeletions of 5.5 Mb (4q13.2-q13.3) and 4.1 Mb (7p15.3-p21.1) associated with a saethre-chotzen-like phenotype, severe intellectual disability, and autism.2013
Author(s)
Shimada S, Okamoto N, Nomura S, Fukui M, Shimakawa S, Sangu N, Shimojima K, Osawa M, Yamamoto T.
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Journal Title
Am J Med Genet A.
Volume: 161A(8)
Issue: 8
Pages: 2078-2083
DOI
Related Report
Peer Reviewed
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[Journal Article] Interstitial duplication of 2q32.1-q33.3 in a patient with epilepsy, developmental delay, and autistic behavior.2013
Author(s)
Usui D, Shimada S, Shimojima K, Sugawara M, Kawasaki H, Shigematu H, Takahashi Y, Inoue Y, Imai K, Yamamoto T.
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Journal Title
Am J Med Genet A.
Volume: 161A(5)
Issue: 5
Pages: 1078-1084
DOI
Related Report
Peer Reviewed
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[Journal Article] Whole-exome sequencing of a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria and midbrain tectal hyperplasia.2013
Author(s)
Okumura A, Hayashi M, Shimojima K, Ikeno M, Uchida T, Takanashi J, Okamoto N, Hisata K, Shoji H, Saito A, Furukawa T, Kishida T, Shimizu T, Yamamoto T.
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Journal Title
Neuropathology.
Volume: 33(5)
Issue: 5
Pages: 553-560
DOI
Related Report
Peer Reviewed
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[Journal Article] PRRT2 mutation in Japanese children with benign infantile epilepsy.2013
Author(s)
Okumura A, Shimojima K, Kubota T, Abe S, Yamashita S, Imai K, Okanishi T, Enoki H, Fukasawa T, Tanabe T, Dibbens LM, Shimizu T, Yamamoto T.
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Journal Title
Brain Dev.
Volume: 35(7)
Issue: 7
Pages: 641-646
DOI
Related Report
Peer Reviewed
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[Journal Article] MECP2 duplication syndrome in both genders.2013
Author(s)
Shimada S, Okamoto N, Ito M, Arai Y, Momosaki K, Togawa M, Maegaki Y, Sugawara M, Shimojima K, Osawa M, Yamamoto T
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Journal Title
Brain Dev
Volume: 35(5)
Issue: 5
Pages: 411-419
DOI
Related Report
Peer Reviewed
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[Presentation] Single nucleotide variation in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures.2016
Author(s)
Yamamoto T, Shimojima K, Komoike Y, Ishii A, Abe S, Yamashita S, Imai K, Kubota T, Fukasawa T, Okanishi T, Enoki H, Tanabe T, Saito A, Furukawa T, Shimizu T, Milligan CJ, Petrou S, Heron SE, Dibbens LM, Hirose S, Okumura A.
Organizer
The 13th International Congress of Human Genetics
Place of Presentation
国立京都国際会館(京都府左京区)
Year and Date
2016-04-03
Related Report
Int'l Joint Research
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