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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 
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
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 
UnknownMolecular Genetics of Lidocaine-Containing Cardioplegia in the Human Heart During Cardiac Surgery.
Not available
S-EPMC6203633 | biostudies-literature
UnknownMyocardial Iron Deficiency and Mitochondrial Dysfunction in Advanced Heart Failure in Humans.
Not available
S-EPMC9238720 | biostudies-literature
Unknownpoly(UG)-tailed RNAs in genome protection and epigenetic inheritance.
Not available
S-EPMC8396162 | biostudies-literature
UnknownDynamic Cellular Integration Drives Functional Assembly of the Heart's Pacemaker Complex.
Not available
S-EPMC6007983 | biostudies-literature
UnknownReversibility of PRKAG2 glycogen-storage cardiomyopathy and electrophysiological manifestations.
Not available
S-EPMC2957811 | biostudies-literature
UnknownProbing the subcellular nanostructure of engineered human cardiomyocytes in 3D tissue.
Not available
S-EPMC8433147 | biostudies-literature
UnknownSex differences in gene expression in response to ischemia in the human left ventricular myocardium.
Not available
S-EPMC6494791 | biostudies-literature
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