Myocardial-intrinsic defects underlie an Rbfox-mediated zebrafish model of hypoplastic left heart syndrome

Study details

Source ID

https://identifiers.org/metabolights:MTBLS4176

Title

Myocardial-intrinsic defects underlie an Rbfox-mediated zebrafish model of hypoplastic left heart syndrome

Summary

Rbfox2 mutations cause HLHS in zebrafish.

Observation

Zebrafish lacking RBFOX2 orthologs show cardiovascular defects.

Findings

RBFOX2 mutations cause HLHS via myocardial dysfunction.

Disease terms

ventricular, valve, and aortic deficiencies, HLHS, cardiovascular defects, myocardial intrinsic defects, hypoplastic left heart syndrome, myocardial defects, Hypoplastic left heart syndrome

Gene terms

RBFOX2

Chemical terms

—

Organisms

humans, zebrafish, patients, human

Raw data (JSON) Show

Also available at /api/study/https://identifiers.org/metabolights:MTBLS4176.

{
  "@type": "Dataset",
  "go_id": [
    "https://identifiers.org/GO:0003723"
  ],
  "go_kw": [
    "RNA binding"
  ],
  "integmet_study": "MTBLS4176",
  "mesh_disease_id": [
    "https://identifiers.org/mesh:D001024",
    "https://identifiers.org/mesh:D018636",
    "https://identifiers.org/mesh:D018376",
    "https://identifiers.org/mesh:C563242",
    "https://identifiers.org/mesh:D009202"
  ],
  "mesh_disease_pubtator_kw": [
    "ventricular, valve, and aortic deficiencies",
    "HLHS",
    "cardiovascular defects",
    "myocardial intrinsic defects",
    "hypoplastic left heart syndrome",
    "myocardial defects",
    "Hypoplastic left heart syndrome"
  ],
  "mesh_gene_id": [
    "https://identifiers.org/ncbigene:23543"
  ],
  "mesh_gene_pubtator_kw": [
    "RBFOX2"
  ],
  "ncbi_taxonomy_id": [
    "https://identifiers.org/taxonomy:9606",
    "https://identifiers.org/taxonomy:7955"
  ],
  "ncbi_taxonomy_pubtator_kw": [
    "humans",
    "zebrafish",
    "patients",
    "human"
  ],
  "source_id": "https://identifiers.org/metabolights:MTBLS4176",
  "study_findings": "RBFOX2 mutations cause HLHS via myocardial dysfunction.",
  "study_observation": "Zebrafish lacking RBFOX2 orthologs show cardiovascular defects.",
  "study_summary": "Rbfox2 mutations cause HLHS in zebrafish.",
  "study_title_original": "Myocardial-intrinsic defects underlie an Rbfox-mediated zebrafish model of hypoplastic left heart syndrome"
}