Seidman Jonathan J

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Genomics (5)
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biostudies-arrayexpress (4)
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Congenital heart disease (1)
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Mass Spectrometry (2)
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2015 (2)
2021 (2)
2013 (1)
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RNA-seq of coding RNA (2)
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2015 (2)
2013 (1)
2008 (1)

Lab affiliation

1 Department of Genetics, Harvard Medical School, Boston, MA 02115 (1)
Department of Genetics, Harvard Medical School, Boston, MA 02115 (1)

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NAA15 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

5'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

NAA15 haploinsufficiency can cause congenital heart disease and perturbs protein levels in induced pluripotent stem cells

ORGANISM(S): Homo sapiens (Human)

2021-07-07 | PXD017672 | Pride

Ipsc Shotgun proteomics Lc-ms/ms

Gene expression profile of calcified and normal tricuspid aortic valves by RNA sequencing.

Purpose: Calcific aortic valve stenosis (AS) is a fatal disease with currently no medical therapy. Some genes were associated with AS, but the genetic architecture of the disease has yet to be discovered. The objective of this study was to combine genome-wide association studies (GWAS) and gene expr...

ORGANISM(S): Homo sapiens

2015-12-09 | E-GEOD-55492 | biostudies-arrayexpress

Transcription profiling of kidney from rats of SHR/Ola, BN and SHR-18 strains after being provided with drinking water with 1% or 0% sodium chloride

Four male SHR/Ola, BN and SHR-18 rats were fed a normal diet and sacrificed at 9 weeks of age. Four male SHR/Ola and SHR-18 rats at 8 weeks of age were fed 1% NaCl for one week and then sacrificed. Kidneys were removed and frozen in liquid nitrogen for all 20 animals. Total RNA was isolated, labelle...

ORGANISM(S): Rattus norvegicus

2008-04-01 | E-MIMR-1122 | biostudies-arrayexpress

National 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

1fcf2848-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

Analysis 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

DAC for Cardiac Translatomes of 80 Human Samples (65 DCM cases 15 controls)

Data Access Committee EGAC00001001040

EGAC00001001040 | EGA

Pi3kcb links Hippo-YAP and PI3K-AKT signaling pathways to promote cardiomyocyte proliferation and survival [ChIPseq]

Background—YAP, the nuclear effector of Hippo signaling, regulates cellular growth and survival in multiple organs, including the heart, by interacting with TEAD sequence specific DNA-binding proteins. Recent studies showed that YAP stimulates cardiomyocyte proliferation and survival. However, the d...