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2016 Fiscal Year Final Research Report

The elucidation of growth failure due to GH/IGF signaling abnormality

Research Project

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Project/Area Number 26461546
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Pediatrics
Research InstitutionTottori University

Principal Investigator

Kawashima Yuki  鳥取大学, 医学部, 講師 (20403412)

Research Collaborator Fujimoto Masanobu  鳥取大学, 医学部周産期・小児医学, 助教
Hasegawa Akiko  鳥取大学, 医学部周産期・小児医学, 技術補佐員
Hanaki Keiichi  鳥取大学, 医学部保健学科母性・小児家族看護学講座, 教授 (20238041)
Kanzaki Susumu  鳥取大学, 医学部周産期・小児医学, 教授 (90224873)
Nanba Eiji  鳥取大学, 遺伝子探索分野, 教授 (40237631)
Adachi Kaori  鳥取大学, 遺伝子探索分野, 助教 (50609237)
Takahashi Shin-ichiro  東京大学, 農学生命科学研究科, 准教授 (00197146)
Project Period (FY) 2014-04-01 – 2017-03-31
Keywords成長障害
Outline of Final Research Achievements

Targeted resequencing was carried out 19 samples using TruSight One sequencing panels. which included 4,813 genes associated with known clinical phenotypes, as previously described We analyzed genes (including GH, GHR, STAT 5, STAT 3, IGF1R, IGF1, IGF2, IGFBP3, IGFALS, IRS1, and IRS2) associated with GH-IGF signals on the panel. We identified both heterozygous IGFALS mutation and IRS1 mutation in 1 case. Functional analysis revealed that both IRS1 mutation and IGFALS mutation result in growth failure. We are applying to publish the journal. Furthermore, heterozygous IGFBP5 mutation, and IGF 2 mutation were identified in each 1 case. We are under functional analysis for those.

Free Research Field

小児内分泌学

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Published: 2018-03-22  

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