Study: JGAS00000000132

Identifier

AccessionJGAS00000000132

Description

TitleTranscriptome analysis of Williams syndrome
AbstractWilliams syndrome (WS) is a neurodevelopmental disorder caused by microdeletion on chromosome 7q11.23, and has attracted much attention for its distinctive features, such as hypersociability. However, it remains unclear which genes are involved in the complex phenotypes of their condition. Here, we performed transcriptome analysis of peripheral blood to identify genes associated with WS.
Study Type
Study TypeCase-Control

Grant

Grant 1
TitleAMED-CREST
AgencyJapan Agency for Medical Research and Development (AMED)
Grant ID0
Grant 2
TitleKAKENHI
AgencyJapan Society for the Promotion of Science (JSPS)
Grant ID16

Publication

PubMed ID30362171
Publication Statuspublished
DB TypePUBMED

Study Link

URL Linkhttp://www.anat1dadb.med.kyoto-u.ac.jp/

Study Attribute

NBDC Numberhum0131
Registration date2018-03-30
Submitting organizationKyoto University
Principal InvestigatorMasatoshi Hagiwara
Molecular Data TypeWhole Transcriptome Sequeicing
PlatformIon Proton
VendorThermo Fisher Scientific
Comment
Primary PhenotypeWilliams syndrome
Study Inclusion/Exclusion CriteriaWe profiled the transcriptomes from 6 WS patients and 8 controls from peripheral blood.
Disease TypeCongenital, Hereditary, and Neonatal Diseases and Abnormalities
diseaseWilliams syndrome
data typeTranscriptome
Dataset
Accession Title Dataset type Data objects Policy
JGAD00000000143 Transcriptome analysis of Williams syndrome 14 JGAP00000000003