Exploring mutated genes and its function in congenital heart disease
| Project/Area Number |
22591181
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Ehime University |
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Principal Investigator |
HIGAKI Takashi 愛媛大学, 医学部附属病院, 准教授 (60253308)
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| Co-Investigator(Kenkyū-buntansha) |
EGUCHI Mariko 愛媛大学, 大学院・γ医学系研究科, 准教授 (40420781)
EGUCHI Minenari 愛媛大学, 医学部附属病院, 講師 (50420782)
鹿田 文昭 愛媛大学, 医学部附属病院, 助教 (90457359)
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| Co-Investigator(Renkei-kenkyūsha) |
SHIKATA Fumiaki 愛媛大学, 医学部附属病院, 講師 (90457359)
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| Project Period (FY) |
2010 – 2012
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| Project Status |
Completed (Fiscal Year 2012)
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| Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2012: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2011: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2010: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
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| Keywords | 小児循環器学 / 先天性心疾患 / 遺伝子異常 / FLK1陽性細胞 / 心筋 / MLPA法 |
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| Research Abstract |
To identify the gene mutations responsible for the cardiac malformations in congenital heart diseases, pieces of cardiac tissue excised from patients during cardiac surgery were analyzed for the presence of mutations in genes involved in cardiac development. Direct sequencing analysis of several candidate genes such as TBX1 and ISL1 failed to discover any disease-causing mutations in all the genes examined so far. Circulating FLK1-positive cells in peripheral blood, which are mobilized from the bone marrow after endothelial cell injury, such as catheter intervention, could be a substitute for cardiac cells because both cells originate from the mesodermal FLK1-positive cells during fetal development. Mutational analyses with peripheral FLK1-positive cells of patients whose cardiac tissue are not obtainable are now ongoing.
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Report
(4 results)
Research Products
(71 results)
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[Journal Article] Long-term outcome of coil occlusion in patients with patent ductus arteriosus2011
Author(s)
Takata, H., T. Higaki, H. Sugiyama, M. Kitano, E. Yamamoto, T. Nakano, M. Nagashima, F. Shikata, H. Tomita, S. Yazaki, I. Shiraishi and E. Ishii
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Journal Title
Circ J
Volume: 75巻2号
Pages: 407-412
NAID
Related Report
Peer Reviewed
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[Journal Article] Novel dominant-negative mutant of GATA3 in HDR syndrome2011
Author(s)
Ohta, M., M. Eguchi-Ishimae, M. Ohshima, H. Iwabuki, K. Takemoto, K. Murao, T. Chisaka, E. Yamamoto, T. Higaki, K. Isoyama, M. Eguchi and E. Ishii
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Journal Title
J Mol Med (Berl)
Volume: 89巻1号
Pages: 43-50
Related Report
Peer Reviewed
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[Journal Article] Use of a hand-made balloon-expandable covered stent for native coarctation of the aorta in an adult patient: a report of a first case in Japan2010
Author(s)
Higaki, T., E. Yamamoto, M. Ryugo, H. Imagawa, F. Shikata, M. Nagashima, M. Ohta, H. Takata, K. Murao, T. Chisaka, T. Moritani, R. Watanabe, H. Tomita, K. Kawachi and E. Ishii
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Journal Title
J Cardiol
Volume: 56巻3号
Pages: 287-290
Related Report
Peer Reviewed
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[Journal Article] Anomalous subaortic left brachiocephalic vein in surgical cases and literature review2010
Author(s)
Nagashima, M., F. Shikata, T. Okamura, E. Yamamoto, T. Higaki, M. Kawamura, M. Ryugo, H. Izutani, H. Imagawa, S. Uchita, Y. Okamura, H. Suzuki, Y. Nakamura, O. Tagusari and K. Kawachi
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Journal Title
Clin Anat
Volume: 23巻 8号
Pages: 950-955
Related Report
Peer Reviewed
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[Presentation] Pre-event Course of Culprit Lesions in Acute Coronary Syndrome in Adults with a History of Kawasaki Disease: A Japanese Nationwide Survey2012
Author(s)
Mitani Y, Tsuda E, Kato H, Ogawa S, Fujiwara M, Nakamura Y, Takahashi K, Ayusawa M, Kobayashi T, Ichida F, Satoh F, Matsushima M, Kamata M, Kamata M, Higaki T, Suda K, Ohashi H, Yokoi H, Hamaoka K
Organizer
AHA
Place of Presentation
Los Angeles,USA
Related Report
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[Presentation] Acute Coronary Syndrome in Adults with a History of Kawasaki Disease : A Japanese Nationwide Survey2012
Author(s)
Mitani Y, Tsuda E, Kato H, Ogawa S, Fujiwara Y, Nakamura Y, Takahashi K, Ayusawa M, Kobayashi T, Ichida F, Matsushima M, Kamata M, Higaki T, Suda K, Ohashi H, Yokoi H, Hamaoka K
Organizer
IKDS
Place of Presentation
KYOTO
Related Report
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[Presentation] Successful stent implantation for pulmonary venous drainage route in the patients with single ventricle complicated by total anomalous pulmonary venous connection2012
Author(s)
Higaki T, Mori Y, Yamamoto E, Nakano T, Ohta M, Takata H, Chisaka T, Moritani T, Miyata T, Yamauchi T, Nakashima Y, Takeda Syo, Kitazawa H, Nagashima M, Okamura T, Shikata F, Ishii E
Organizer
APPCS 2012
Place of Presentation
TAIPEI,TAIWAN
Related Report
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[Presentation] Noncompaction of Myocardium in Neonate2012
Author(s)
Takata H, Higaki T, Yamamoto E, Konishi K, Ohta M, Chisaka T, Nagashima M, Okamura T, Shikata F, Ishii E
Organizer
The 4th Congress of Asia-Pacific Pediatric Cardiac Society APPCS 2012
Place of Presentation
TAIPEI,TAIWAN
Related Report
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[Presentation] Out-Of-Hospital Cardiac Arrest in Elementary and Middle School Students in the Era of Public-Access Defibrillation: ARetrospective, Nationwide, Hospital-Based Survey in Japan2011
Author(s)
Mitani Y, Ohta K, Ichida F, Nii M, Sawada H, Ohashi H, Yodoya N, Otsuki S, Arakaki Y, Ushinohama H, Tateno S, Sato S, Suzuki T, Higaki T, Iwamoto M, Yoshinaga M, Sumitomo N
Organizer
AHA, 2011
Place of Presentation
Orlando,USA
Related Report
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[Presentation] Acute Coronary Syndrome in Adults with a History of Kawasaki Disease: A Japanese Nationwide Survey2011
Author(s)
Mitani Y, Tsuda E, Kato H, Ogawa S, Nakamura Y, Takahashi K, Ayusawa M, Kobayashi T, Ichida F, Matsushima M, Kamata M, Higaki T, Suda K, Ohashi H, Yokoi H, Hamaoka K
Organizer
AHA 2011
Place of Presentation
Orlando, USA
Related Report
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[Presentation] Evaluation of the Modified Blalock-Taussig Shunt in Children with Congenital Heart Disease Using 64-slice and 256-slice Computed Tomography2010
Author(s)
Higaki T, Kurata A, Yamamoto E, Matsuda O, Nakano T, Konishi K, Ohta M, Takata H, Nagatani K, Murao K, Takahashi Y, Chisaka T, Moritani T, Watanabe R, Nagashima M, Shikata F, Okamura T ,Hosokawa K, Kido T, Higashino H, Mochizuki T, Ishii E
Organizer
AP PCS 2010
Place of Presentation
CHIBA
Related Report
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[Presentation] Change In The Qt Intervals During Infantile Periods2010
Author(s)
Yoshinaga M, Kato Y, Nomura Y, Hazeki D, Yasuda T, Takahashi K, Higaki T, Tanaka Y, Suruki N, Wada A, Horigome H, Ueno K, Suzuki H, Nagashima M.
Organizer
AHA 2010
Place of Presentation
千葉
Related Report
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[Presentation] Impact Of Public-Access Defibrillation At School On The Outcome After Out-Of-Hospital Cardiac Arrest Of Cardiac Origin In Elementary And Middle School Students: A Japanese Nationwide Survey2010
Author(s)
Mitani Y, Ohta K, Ichida F, Nii M, Arakaki Y, Ushinohama H, Ohashi H, Tateno S, Sato S, Suzuki T, Higaki T, Iwamoto M, Yoshinaga M, Sumitomo N
Organizer
AHA 2010
Place of Presentation
千葉
Related Report
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