{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["11(1-2)"],"submitter":["Brauers E"],"funding":["Bundesministerium für Bildung und Forschung","Ministerium für Innovation, Wissenschaft und Forschung des Landes Nordrhein-Westfalen","Deutsche Gesellschaft für Muskelkranke e.V.","Deutsche Forschungsgemeinschaft","RWTH Aachen University"],"pubmed_abstract":["<h4>Purpose</h4>In the era of next-generation sequencing, we are increasingly confronted with sequence variants of unknown significance. This phenomenon is also known for variations in Caveolin-3 and can complicate the molecular diagnosis of the disease. Here, we aimed to study the ambiguous character of the G56S Caveolin-3 variant.<h4>Experimental design</h4>A comprehensive approach combining genetic and morphological studies of muscle derived from carriers of the G56S Caveolin-3 variant were carried out and linked to biochemical assays (including phosphoblot studies and proteome profiling) and morphological investigations of cultured myoblasts.<h4>Results</h4>Muscles showed moderate chronic myopathic changes in all carriers of the variant. Myogenic RCMH cells expressing the G56S Caveolin"],"journal":["Proteomics. Clinical applications"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5248598"],"repository":["biostudies-literature"],"pubmed_title":["The Caveolin-3 G56S sequence variant of unknown significance: Muscle biopsy findings and functional cell biological analysis."],"pmcid":["PMC5248598"],"funding_grant_id":["41/12","MD-Net P4","DFG ZA 639/1-1","01GM0887"],"pubmed_authors":["Thoma S","Kress W","Weis J","Brauers E","Mohanadas N","Zahedi RP","Hausler M","Beckmann A","Bauer H","Senderek J","Kollipara L","Roos A"],"additional_accession":[]},"is_claimable":false,"name":"The Caveolin-3 G56S sequence variant of unknown significance: Muscle biopsy findings and functional cell biological analysis.","description":"<h4>Purpose</h4>In the era of next-generation sequencing, we are increasingly confronted with sequence variants of unknown significance. This phenomenon is also known for variations in Caveolin-3 and can complicate the molecular diagnosis of the disease. Here, we aimed to study the ambiguous character of the G56S Caveolin-3 variant.<h4>Experimental design</h4>A comprehensive approach combining genetic and morphological studies of muscle derived from carriers of the G56S Caveolin-3 variant were carried out and linked to biochemical assays (including phosphoblot studies and proteome profiling) and morphological investigations of cultured myoblasts.<h4>Results</h4>Muscles showed moderate chronic myopathic changes in all carriers of the variant. Myogenic RCMH cells expressing the G56S Caveolin","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017 Jan","modification":"2026-04-07T13:46:55.374Z","creation":"2019-03-27T02:34:34Z"},"accession":"S-EPMC5248598","cross_references":{"pubmed":["27739254"],"doi":["10.1002/prca.201600007"]}}