Molecular basis underlying ciliopathy in 13 trisomy syndrome
Project/Area Number |
15K15017
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Research Category |
Grant-in-Aid for Challenging Exploratory Research
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Allocation Type | Multi-year Fund |
Research Field |
General anatomy (including histology/embryology)
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Research Institution | Hiroshima University |
Principal Investigator |
Miyamoto Tatsuo 広島大学, 原爆放射線医科学研究所, 講師 (40452627)
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Co-Investigator(Kenkyū-buntansha) |
柳原 啓見 国立研究開発法人量子科学技術研究開発機構, 放射線医学総合研究所 放射線影響研究部, 博士研究員(任常) (50719474)
松浦 伸也 広島大学, 原爆放射線医科学研究所, 教授 (90274133)
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Project Period (FY) |
2015-04-01 – 2018-03-31
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Project Status |
Completed (Fiscal Year 2017)
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Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2017: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2016: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
|
Keywords | 繊毛病 |
Outline of Final Research Achievements |
13 trisomy syndrome (Patau syndrome) is characterized with developmental anomalies of brain and heart. Importantly, patients with the disease also show ciliopathy-like symptoms including polycystic kidney and polydactyly. In order to clarify the molecular pathology of ciliopaty in Patau syndrome,here we attempted to screen the causative genes. We identified the two genes associated with vesicular transport and mitochondria as the candidate gene underlying ciliopathy in Patau syndrome.
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Report
(4 results)
Research Products
(52 results)
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[Journal Article] Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa2016
Author(s)
Sasaki T, Hanisch FG, Deutzmann R, Sakai LY, Sakuma T, Miyamoto T, Yamamoto T, Hannappel E, Chu ML, Lanig H, von der Mark K
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Journal Title
Matrix Biol
Volume: 56
Pages: 132-149
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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[Presentation] A combined approch of exome sequencing and genome editing identified WDR62/MCPH2 mutations in the Japanese patients with primary microcephaly2018
Author(s)
Tatsuo Miyamoto, Silvia Natsuko Akutsu, Akihiro Fukumitsu, Yoshinori Masatsuna, Kosuke Hosoba, Hiroyuki Morino, Hideshi Kawakami, Kenji Shimizu, Hirofumi Ohashi, Takashi Yamamoto, Shinya Matsuura
Organizer
The 9th Takeda Science Foundation Symposium on PharmaSciences Genome Editing towards medical applications
Related Report
Int'l Joint Research
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[Presentation] Genetic characterization of a patient with a progeroid phenotype and mosaic variegated aneuploidy.2017
Author(s)
Harumi Fujita, Takashi Sasaki, Tatsuo Miyamoto, Takehiko Mori, Kazuhiko Nakabayashi, Kenichiro Hata, Shinya Matsuura, Yoichi Matsubara, Masayuki Amagai, Akiharu Kubo
Organizer
KEYSTONE SYMPOSIA MEETING, Aging and Mechanism of Aging-Related Disease
Related Report
Int'l Joint Research
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[Presentation] PLK1-mediated phosphorylation of WDR62/MCPH2 is required for proper mitotic spindle orientation2017
Author(s)
Tatsuo Miyamoto, Kosuke Hosoba, Silvia Natsuko Akutsu, Hiroyuki Morino, Akihiro Fukumitsu, Yoshinori Masatsuna, Hideshi Kawakami, Takashi Yamamoto, Kenji Shimizu, Hirofumi Ohashi, Shinya Matsuura
Organizer
第75回日本癌学会学術総会
Related Report
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[Presentation] PLK1-dependent phosphorylation of WDR62, a causative gene product for primary microcephaly, maintains mitotic spindle orientation2016
Author(s)
Tatsuo Miyamoto, Kosuke Hosoba, Yoshinori Masatsuna, Akihiro Fkumitsu, Silvia Natsuko Akustu, Kosuke Hosoba, Hiroyuki Morino, Hideshi Kawakami, Takashi Yamamoto, Kenji Shimizu, Hirofumi Oohashi, Shinya Matsuura
Organizer
The 28th CDB meeting Cilia and Centrosomes
Place of Presentation
神戸
Year and Date
2016-11-27
Related Report
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[Presentation] A combined approach of exome sequencing and genome editing identified WDR62/MCPH2 mutations in patients with primary microcephaly2016
Author(s)
Tatsuo Miyamoto, Yoshinori Masatsuna, Akihiro Fukumitsu, Silvia Natsuko Akustu, Kosuke Hosoba, Hiroyuki Morino, Hideshi Kawakami, Takashi Yamamoto, Kenji Shimizu, Hirofumi Ohashi, Shinya Matsuura
Organizer
ASHG2016
Place of Presentation
Vancouver (Canada)
Year and Date
2016-10-18
Related Report
Int'l Joint Research
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