Identification of pathogenic genes for genetic diseases using next-generation sequencing and high-density microarray
Project/Area Number |
23659513
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Research Category |
Grant-in-Aid for Challenging Exploratory Research
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Allocation Type | Multi-year Fund |
Research Field |
Pediatrics
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Research Institution | Tohoku University |
Principal Investigator |
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Co-Investigator(Kenkyū-buntansha) |
NIIHORI Tetsuya 東北大学, 大学院・医学系研究科, 助教 (40436134)
KURE Shigeo 東北大学, 大学院・医学系研究科, 教授 (10205221)
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Research Collaborator |
AOKI Yoko 東北大学, 大学院・医学系研究科, 准教授 (80332500)
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Project Period (FY) |
2011 – 2012
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Project Status |
Completed (Fiscal Year 2012)
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Budget Amount *help |
¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
Fiscal Year 2012: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2011: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
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Keywords | 遺伝性疾患 / 遺伝子解析 / シークエンス |
Research Abstract |
Next-generation sequencing and high-density microarray analysis were used to investigate disease-causing genes for genetic diseases in which molecular pathogenesis had not been clarified. We successfully identified a pathogenic gene for a subtype of myopathies in one family. We also identified novel disease-causing genes in a congenital anomaly syndrome and an endocrine disorder. The results would lead to the understanding of the pathogenesis of these disorders and the development of therapeutic means.
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Report
(3 results)
Research Products
(31 results)
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[Journal Article] Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure2013
Author(s)
Izumi R, Niihori T, Aoki Y, Suzuki N, Kato M, Warita H, Takahashi T, Tateyama M, Nagashima T, Funayama R, Abe K, Nakayama K, Aoki M, Matsubara Y
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Journal Title
J Hum Genet
Volume: 58(5)
Issue: 5
Pages: 259-66
DOI
NAID
Related Report
Peer Reviewed
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[Journal Article] Casitas B-cell lymphoma mutation in childhood T -cell acute lymphoblastic leukemia2012
Author(s)
Saito Y, Aoki Y, Muramatsu H, Makishima H, Maciejewski JP, Imaizumi M, Rikiishi T, Sasahara Y, Kure S, Niihori T, Tsuchiya S, Kojima S, Matsubara Y
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Journal Title
Leuk Res
Volume: 36(8)
Issue: 8
Pages: 1009-15
DOI
Related Report
Peer Reviewed
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[Journal Article] the BOSHI Study Group. Daily serial hemodynamic data during pregnancy and seasonal2012
Author(s)
Metoki H, Ohkubo T, Obara T, Akutsu K, Yamamoto M, Ishikuro M, Sakurai K, Iwama N, Katagiri M, Sugawara J, Hirose T, Sato M, Kikuya M, Yagihashi K, Matsubara Y, Yaegashi N, Mori S, Suzuki M, Imai Y
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Journal Title
variation : the BOSHI study. Clin Exp Hypertens
Volume: (In press)
Issue: 4
Pages: 290-6
DOI
Related Report
Peer Reviewed
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[Journal Article] Costello and CFC syndrome study group in Japan. Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey2012
Author(s)
Abe Y, Aoki Y, Kuriyama S, Kawame H, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Ogata T, Kure S, Niihori T, Matsubara Y
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Journal Title
Am J Med GenetA
Volume: 158A(5)
Pages: 1083-1094
Related Report
Peer Reviewed
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[Journal Article] Homozygous c. 14576G> A Variant of<I> RNF213</I> Predicts Early-Onset and Severe Form of Moyamoya Disease2012
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
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Journal Title
Neurology
Volume: 78(11)
Issue: 11
Pages: 803-10
DOI
Related Report
Peer Reviewed
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[Journal Article] Association between cancer risk anddrug-metabolizing enzyme gene (CYP2A6, CYP2A13, CYP4B1, SULT1A1, GSTM1, and GSTT1) polymorphisms in cases of lung cancer in Japan2011
Author(s)
Tamaki Y, Arai T, Sugimura H, Sasaki T, Honda M, Muroi Y, Matsubara Y, Kanno S, Ishikawa M, Hirasawa N, Hiratsuka M
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Journal Title
Drug Metab Pharmacokinet
Volume: 26(5)
Pages: 516-522
Related Report
Peer Reviewed
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[Presentation] Epidemiological features of Costello syndrome and cardio-facio-cutaneous syndrome: findings from the first nationwide survey2011
Author(s)
Y. Abe, Y. Aoki, S. Kuriyama, H. Kawame, N. Okamoto, K. Kurosawa, H. Ohashi, S. Mizuno, T. Ogata, S. Kure, T. Niihori, Y. Matsubara
Organizer
12th International Congress of Human Genetics
Place of Presentation
モントリオール、カナダ
Related Report
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[Presentation] Identification of a susceptibility gene for Moyamoya disease, RNF213 by a genome-wide association study2011
Author(s)
S. Kure, F. Kamada, Y. Aoki ,Y. Abe S, Komatsuzaki, A. Kikuch, J.Kanno, T. Niihori, M. Fuji-mura,Y. Mashimo, M. Ono, N. Ishii, Y. Owada, Y. Suzuki, A. Hata,T. Tominaga, Y. Matsubara
Organizer
12th International Congress of Human Genetics
Place of Presentation
モントリオール、カナダ
Related Report
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