Elucidation of the new pathways about onset of the childhood pulmonary arterial hypertension
Project/Area Number |
24591588
|
Research Category |
Grant-in-Aid for Scientific Research (C)
|
Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Pediatrics
|
Research Institution | Tokyo Women's Medical University |
Principal Investigator |
|
Co-Investigator(Kenkyū-buntansha) |
FURUTANI Yoshiyuki 東京女子医科大学, 医学部, 助教 (10424673)
SHINTANI Masaki 東京女子医科大学, 医学部, 非常勤講師 (10578537)
NAKANISHI Toshio 東京女子医科大学, 医学部, 教授 (90120013)
|
Co-Investigator(Renkei-kenkyūsha) |
CHIDA Ayako 東京女子医科大学, 医学部 (10622160)
|
Project Period (FY) |
2012-04-01 – 2015-03-31
|
Project Status |
Completed (Fiscal Year 2014)
|
Budget Amount *help |
¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2014: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2012: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
|
Keywords | 特発性肺動脈性肺高血圧症 / 遺伝子変異 |
Outline of Final Research Achievements |
We screened IPAH patients without a known genetic mutation for mutations in genes related to the Delta/Notch signaling pathway, and detected X gene mutations involved in the signal transduction pathway. For mutagenesis, we prepared the gene expression vector X of the X gene variants. When immunostaining was performed for expression detection in stable cell lines introduced with a wild or a mutant expression vector, the mutant expression strain showed decreased X protein expression levels, and large declines in the residual amount of X protein were observed after 48 hours. Expression of the endoplasmic reticulum chaperone was remarkably reduced in the mutant expression strains, and translocation of a portion of the chaperones from the endoplasmic reticulum to the nucleus was observed.
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Report
(4 results)
Research Products
(1 results)
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[Journal Article] Mutations of NOTCH3 in childhood pulmonary arterial hypertension.2014
Author(s)
Chida A, Shintani M, Matsushita Y, Sato H, Eitoku T, Nakayama T, Furutani Y, Hayama E, Kawamura Y, Inai K, Ohtsuki S, Saji T, Nonoyama S, Nakanishi T.
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Journal Title
Mol Genet Genomic Med.
Volume: 2
Issue: 3
Pages: 229239-229239
DOI
Related Report
Peer Reviewed