{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["13(8)"],"submitter":["Schmidt VF"],"pubmed_abstract":["<h4>Background</h4>We aimed to correlate alterations in the rat sarcoma virus (RAS)/mitogen-activated protein kinase pathway in vascular anomalies to the clinical phenotype for improved patient and treatment stratification.<h4>Methods and results</h4>This retrospective multicenter cohort study included 29 patients with extracranial vascular anomalies containing mosaic pathogenic variants (PVs) in genes of the RAS/mitogen-activated protein kinase pathway. Tissue samples were collected during invasive treatment or clinically indicated biopsies. PVs were detected by the targeted sequencing of panels of genes known to be associated with vascular anomalies, performed using DNA from affected tissue. Subgroup analyses were performed according to the affected genes with regard to phenotypic charac"],"journal":["Journal of the American Heart Association"],"pagination":["e033287"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11262533"],"repository":["biostudies-literature"],"pubmed_title":["Extracranial Vascular Anomalies Driven by RAS/MAPK Variants: Spectrum and Genotype-Phenotype Correlations."],"pmcid":["PMC11262533"],"pubmed_authors":["Sint A","Wildgruber M","Kimm MA","Schmidt VF","Vielsmeier V","Cucuruz B","Seebauer CT","Haehl J","Wagner A","Weiß JBW","Ricke J","Holm A","Zenker M","APOLLON Investigators","Wohlgemuth WA","Uller W","Huthmann L","Goldann C","Cordes J","Schanze D","Michel AJ","Seidensticker M","Brill R","Haberle B","Kapp FG"],"additional_accession":[]},"is_claimable":false,"name":"Extracranial Vascular Anomalies Driven by RAS/MAPK Variants: Spectrum and Genotype-Phenotype Correlations.","description":"<h4>Background</h4>We aimed to correlate alterations in the rat sarcoma virus (RAS)/mitogen-activated protein kinase pathway in vascular anomalies to the clinical phenotype for improved patient and treatment stratification.<h4>Methods and results</h4>This retrospective multicenter cohort study included 29 patients with extracranial vascular anomalies containing mosaic pathogenic variants (PVs) in genes of the RAS/mitogen-activated protein kinase pathway. Tissue samples were collected during invasive treatment or clinically indicated biopsies. PVs were detected by the targeted sequencing of panels of genes known to be associated with vascular anomalies, performed using DNA from affected tissue. Subgroup analyses were performed according to the affected genes with regard to phenotypic charac","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Apr","modification":"2025-04-04T14:45:57.216Z","creation":"2025-04-04T14:45:57.216Z"},"accession":"S-EPMC11262533","cross_references":{"pubmed":["38563363"],"doi":["10.1161/JAHA.123.033287"]}}