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2016 Fiscal Year Final Research Report

Genetic mechanism of split-hand/foot malformation with or without long bone deficiency

Research Project

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Project/Area Number 26870255
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Human genetics
Pediatrics
Research InstitutionHamamatsu University School of Medicine

Principal Investigator

Nagata Eiko  浜松医科大学, 医学部附属病院, 特任助教 (90535569)

Co-Investigator(Renkei-kenkyūsha) Fukami Maki  国立成育医療研究センター, 分子内分泌研究部, 部長 (40265872)
Ogata Tsutomu  浜松医科大学, 小児科, 教授 (40169173)
Project Period (FY) 2014-02-01 – 2017-03-31
Keywords先天異常 / 遺伝子解析 / 臨床遺伝学
Outline of Final Research Achievements

BHLHA9 copy-number gain constitutes a strong susceptibility factor with a dosage effect for limb malformations. Japanese founder duplication was generated through a replication-based mechanism and underwent subsequent triplication and haplotype modification through recombination- based mechanisms. Clinical variability appears to be due to multiple factors.

Free Research Field

臨床遺伝学

URL: 

Published: 2018-03-22  

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