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Molecular Signatures of cardiac defects in Down syndrome lymphoblastoid cell lines (congenital heart disease)

ABSTRACT: Molecular Signatures of cardiac defects in Down syndrome lymphoblastoid cell lines. In this study, we want to identify genes and pathways specifically dysregulated in atrioventricular septal defect and /or atrial septal defect + ventricular septal defect in case of trisomy 21.

ORGANISM(S): Homo sapiens

PROVIDER: GSE34457 | GEO | 2012/08/15

SECONDARY ACCESSION(S): PRJNA156351

REPOSITORIES: GEO

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Molecular Signatures of cardiac defects in Down syndrome lymphoblastoid cell lines (congenital heart disease)

Project description:Molecular Signatures of cardiac defects in Down syndrome lymphoblastoid cell lines. In this study, we want to identify genes and pathways specifically dysregulated in atrioventricular septal defect and /or atrial septal defect + ventricular septal defect in case of trisomy 21. Total RNA obtained from DS lymphoblastoid cell lines without congenital heart disease compared to cell lines from DS with congenital heart disease.

2012-08-14 | E-GEOD-34457 | biostudies-arrayexpress

Complete atrio-ventricular canal defects in mouse hearts lacking G-protein receptor kinases

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Molecular Signatures of cardiac defects in Down syndrome lymphoblastoid cell lines (trisomy 21)

2012-08-15 | GSE34458 | GEO

Molecular Signatures of cardiac defects in Down syndrome lymphoblastoid cell lines (trisomy 21)

Project description:Molecular consequences of trisomy in lymphoblastoid cell lines from patients with Down syndrome. This project analyses differentially expressed genes between humans with trisomy 21 and humans without trisomy 21. Total RNA obtained from human lymphoblastoid cell lines without trisomy 21 compared to cell lines from human with trisomy 21.

2012-08-14 | E-GEOD-34458 | biostudies-arrayexpress

Molecular Signatures of cardiac defects in Down syndrome lymphoblastoid cell lines

Project description:This SuperSeries is composed of the following subset Series: GSE34457: Molecular Signatures of cardiac defects in Down syndrome lymphoblastoid cell lines (congenital heart disease) GSE34458: Molecular Signatures of cardiac defects in Down syndrome lymphoblastoid cell lines (trisomy 21) Refer to individual Series

2012-08-14 | E-GEOD-34459 | biostudies-arrayexpress

NGS-based miRNome profile in cardiac muscle tissue of congenital heart disease patients

Project description:The goal of this study was to explore the miRNome profile in three frequently occurring Congenital Heart Disease (CHD) types, namely Atrial Septal Defect (ASD), Ventricular Septal Defect (VSD) and Tetralogy of Fallot (TOF). For this purpose, we extracted total RNA from the cardiac tissues of patients with CHD and non-CHD, which was subjected to high-throughput sequencing technology to profile the miRNAs. The small RNA sequencing data was analyzed using the nf-core bioinformatic analysis pipeline. There were 40 up-regulated and 8 down-regulated miRNAs identified to be differentially expressed. These miRNAs are predicted to target several genes involved in regulatory pathways such as cell proliferation, differentiation, cell survival, etc. The results from this study are expected to expand the existing knowledge on molecular basis of CHD. Functional validation can throw insights on molecular epidemiology and therapy for heart diseases.

2022-10-02 | GSE185565 | GEO

Analysis of copy number variants on chromosome 21 in Down syndrome-associated congenital heart defects

Project description:One in five people with Down syndrome (DS) are born with an atrioventricular septal defect (AVSD), an incidence 2,000 times higher than in the euploid population. The genetic loci that contribute to this risk are poorly understood. In this study, we tested two hypotheses: 1) individuals with DS carrying chromosome 21 copy number variants (CNVs) that interrupt exons may be protected from AVSD, because these CNVs return AVSD susceptibility loci back to disomy, and 2) individuals with DS carrying chromosome 21 genes spanned by microduplications are at greater risk for AVSD because these microduplications boost the dosage of AVSD susceptibility loci beyond a tolerable threshold. We tested 236 case individuals with DS+AVSD and 290 control individuals with DS and a normal heart using a custom microarray with dense probes tiled on chromosome 21 for array CGH. We found that neither an individual chromosome 21 CNV nor any individual gene intersected by a CNV was associated with AVSD in DS. Burden analyses revealed that African American controls had more bases covered by rare deletions than did African American cases. Inversely, we found that Caucasian cases had more genes intersected by rare duplications than did Caucasian controls. Pathway analyses indicated copy number perturbtations of genes involved in protein heterotrimerization and histone methylating proteins. Finally, we showed that previously DS+AVSD-associated common CNVs on chromosome 21 are likely false positives. This research adds to the swell of evidence indicating that DS-associated AVSD is similarly heterogeneous, as is AVSD in the euploid population.

2017-01-30 | GSE93004 | GEO

Family Genomics of Congenital Heart Defects

Project description:<p>The study identified the causal mutation in a five-generation pedigree harboring a cardiac septal defect. The inheritance pattern is consistent with an autosomal dominant mutation with high penetrance. We performed whole-genome sequencing (Complete Genomics) on 21 individuals in the pedigree, of which 11 individuals are affected. We identified a single gene, <a href="http://www.ncbi.nlm.nih.gov/gene/2626">GATA4</a>, as primarily responsible for this cardiac phenotype in this pedigree.</p>

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Comparative DNA methylation and gene expression analysis identifies novel genes for structural congenital heart diseases

Project description:The most common congenital heart disease (CHD) is the ventricular septal defect (VSD), which is also a subfeature of Tetralogy of Fallot (TOF) representing the most common form of cyanotic CHD. The underlying causes for the majority of CHDs are still unclear and most probably consist of combinations of genetic, epigenetic and environmental factors. DNA methylation is the most widely studied epigenetic modification and several cardiac regulators have already been shown to be differentially methylated in CHD patients. Here, we present the first analysis of genome-wide DNA methylation data obtained from cardiac biopsies of TOF and VSD patients. We applied affinity-based enrichment of methylated DNA sequences with methyl-CpG-binding domain proteins followed by next-generation sequencing (MBD-Seq). MBD-seq on cardiac biopsies of patients with Tetralogy of Fallot and ventricular septal defect

2016-08-08 | E-GEOD-62629 | biostudies-arrayexpress

Atrial Molecular Asymmetry Precedes the Emergence of Cardiac Septation I

Project description:Comparison of total RNA of atrial and ventricular chambers from adult zebrafish heart. The goal was to identify chamber specific transcripts and atrial enriched transcripts that can be linked to atrial or ventricular septal defects in mammals.

2018-05-09 | GSE94490 | GEO

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