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2016 Fiscal Year Final Research Report

The biochemically analyze Notch1 mutations linked to Adams-Oliver syndrome

Research Project

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Project/Area Number 15K18502
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Functional biochemistry
Research InstitutionNagoya University

Principal Investigator

OGAWA MITSUTAKA  名古屋大学, 医学系研究科, 研究員 (70727429)

Research Collaborator SAWAGUCHI SHOGO  名古屋大学, 大学院医学系研究科, 大学院生
Didarul Alam Sayed M.d  名古屋大学, 大学院医学系研究科, 大学院生
Project Period (FY) 2015-04-01 – 2017-03-31
KeywordsNOTCH / アダムズ-オリバー症候群
Outline of Final Research Achievements

The mutations of NOTCH1 are found in the Adams-Oliver syndrome (AOS) patients. The aim of this study is to biochemically analyze Notch1 mutations linked to AOS and demonstrate that Notch1 mutations found in AOS is shown as the dysfunction of Dll4-Notch binding. Those results suggest that impaired Dll4-Notch1 signaling may be an alternative basis of the pathogenesis of AOS.

Free Research Field

糖質生物学

URL: 

Published: 2018-03-22  

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