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Unknown"Omics" data integration and functional analyses link Enoyl-CoA hydratase, short chain 1 to drug refractory dilated cardiomyopathy.
Not available
S-EPMC6292014 | biostudies-literature
TranscriptomicsExpression data from primary human dermal fibroblasts with STAT2 deficiency and control fibroblasts treated with interferon
Primary human dermal fibroblasts were isolated from an individual showing a genetic defect in innate antiviral immunity associated with profound failure of type 1 interferon signaling and absence of the STAT2 protein. The transcriptional response of these cells to a 10h treatment with interferon-alp...
ORGANISM(S): Homo sapiens 
2013-03-05 | E-GEOD-41960 | biostudies-arrayexpress
UnknownA Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger.
Not available
S-EPMC9600848 | biostudies-literature
UnknownBREX system of Escherichia coli distinguishes self from non-self by methylation of a specific DNA site.
Not available
S-EPMC6326788 | biostudies-literature
ProteomicsPITX2 defiency identifies changes in sarcomere structure and mitochondrial dysfunktion as substrates for atrial fibrillation
Atrial fibrillation affects 2-3% of the population and is associated with high morbidity and mortality from cardiovascular causes in patients. Common gene variants on chromosome 4q25 show the strongest genomic disease association and reside in an enhancer region regulating the Paired like Homeodomai...
ORGANISM(S): Homo sapiens (Human) 
2025-05-06 | PXD037189 | Pride
Cardiomyocytes Stem cell Pitx" knockout 
UnknownIntroducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.
Not available
S-EPMC5777202 | biostudies-literature
UnknownPITX2 deficiency leads to atrial mitochondrial dysfunction.
Not available
S-EPMC11630043 | biostudies-literature
UnknownWhole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.
Not available
S-EPMC5046646 | biostudies-literature
UnknownCharacterization of multiple platelet activation pathways in patients with bleeding as a high-throughput screening option: use of 96-well Optimul assay.
Not available
S-EPMC3931193 | biostudies-literature
UnknownTargetable vulnerabilities in T- and NK-cell lymphomas identified through preclinical models.
Not available
S-EPMC5964252 | biostudies-literature
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