Sort   by:  
 Page size 
ProteomicsNAA15 haploinsufficiency can cause congenital heart disease and perturbs protein levels in induced pluripotent stem cells
NAA15 is a component of the NatA complex that acetylates amino terminal (Nt) protein residues and influences protein synthesis. We identified multiple damaging NAA15 variants in congenital heart disease patients, including four loss-of-function (LoF) variants, one missense (R276W) de novo variant an...
ORGANISM(S): Homo sapiens (Human) 
2021-07-07 | PXD017672 | Pride
Ipsc Shotgun proteomics Lc-ms/ms 
ProteomicsNAA15 haploinsufficiency can cause congenital heart disease and perturbs protein levels in induced pluripotent stem cells
NAA15 is a component of the NatA complex that acetylates amino terminal (Nt) protein residues and influences protein synthesis. We identified multiple damaging NAA15 variants in congenital heart disease patients, including four loss-of-function (LoF) variants, one missense (R276W) de novo variant an...
ORGANISM(S): Homo sapiens (Human) 
2021-08-30 | PXD018013 | Pride
Ipsc N-terminal acetylation N-terminomics 
Transcriptomics5'RNA-seq analysis of hypertrophic cardiomyopathy (HCM) in mice that carry a human missence mutation in the myosin heavy chain
We developed a 5'RNA-seq methodology to concurrently assess gene expression and start-site usage changes. We applied this methodology to study hypertrophic cardiomyopathy in mice harboring a human deleterious mutation. 5'RNA-seq analysis of transcriptomes from mouse hearts with or without hypertroph...
ORGANISM(S): Mus musculus 
2013-11-05 | E-GEOD-52038 | biostudies-arrayexpress
GenomicsNational Heart, Lung, and Blood Institute (NHLBI) Bench to Bassinet Program: The Pediatric Cardiac Genetics Consortium (PCGC)

Multi-center, prospective observational cohort study of individuals with congenital heart defects (CHD). Phenotypic data and source DNA of probands, parents, and families of interest are being collected to investigate relationships between genetic factors and phenotypic and clinical outcomes in p...

phs000571.v1.p1 | EGA
Genomics1fcf2848-b51f-450f-a20d-02c6d8156eb7 - samples
Dataset consists of fastq files of Ribo-seq, polyA-RNA and total RNA sequencing of 80 samples (65 DCM cases and 15 controls)
EGAD00001004394 | EGA
GenomicsAnalysis of translatome, truncating mutations, lncRNA, circRNA and microproteins of 80 human DCM cases and controls
The regulation of gene expression in healthy and diseased human tissues is incompletely understood and has primarily been studied on the transcriptional level. Here, we quantify the impact of translation on gene expression and annotate novel translational events in 80 human hearts. These include 65 ...
EGAS00001003263 | EGA
GenomicsDAC for Cardiac Translatomes of 80 Human Samples (65 DCM cases 15 controls)
Data Access Committee EGAC00001001040
EGAC00001001040 | EGA
Sort   by:  
 Page size