{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Bernasconi P"],"funding":["Ministero dell'Istruzione, dell'Università e della Ricerca","European Cooperation in Science and Technology","Fondazione del Monte di Bologna e Ravenna"],"pagination":["292-304"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5973167"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["9(1)"],"pubmed_abstract":["Among rare diseases caused by mutations in LMNA gene, Emery-Dreifuss Muscular Dystrophy type 2 and Limb-Girdle muscular Dystrophy 1B are characterized by muscle weakness and wasting, joint contractures, cardiomyopathy with conduction system disorders. Circulating biomarkers for these pathologies have not been identified. Here, we analyzed the secretome of a cohort of patients affected by these muscular laminopathies in the attempt to identify a common signature. Multiplex cytokine assay showed that transforming growth factor beta 2 (TGF β2) and interleukin 17 serum levels are consistently elevated in the vast majority of examined patients, while interleukin 6 and basic fibroblast growth factor are altered in subgroups of patients. Levels of TGF β2 are also increased in fibroblast and myobl"],"journal":["Nucleus (Austin, Tex.)"],"pubmed_title":["Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes."],"pmcid":["PMC5973167"],"funding_grant_id":["CA15214","PRIN2015-FBNB5Y","20072015"],"pubmed_authors":["Schena E","Prencipe S","Bernasconi P","Rodolico C","Lanzuolo C","Morandi L","Santoro L","Boriani G","Mongini T","Siciliano G","Maggi L","Carboni N","Biagini E","Vercelli L","Columbaro M","Cavalcante P","Ruggiero L","Cappelletti C","Evangelisti C","Ricci G","Sabatelli P","Bonne G","Muchir A","Pegoraro E","Lattanzi G","Politano L"],"additional_accession":[]},"is_claimable":false,"name":"Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes.","description":"Among rare diseases caused by mutations in LMNA gene, Emery-Dreifuss Muscular Dystrophy type 2 and Limb-Girdle muscular Dystrophy 1B are characterized by muscle weakness and wasting, joint contractures, cardiomyopathy with conduction system disorders. Circulating biomarkers for these pathologies have not been identified. Here, we analyzed the secretome of a cohort of patients affected by these muscular laminopathies in the attempt to identify a common signature. Multiplex cytokine assay showed that transforming growth factor beta 2 (TGF β2) and interleukin 17 serum levels are consistently elevated in the vast majority of examined patients, while interleukin 6 and basic fibroblast growth factor are altered in subgroups of patients. Levels of TGF β2 are also increased in fibroblast and myobl","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018 Jan","modification":"2025-04-04T23:47:08.647Z","creation":"2019-03-26T23:39:34Z"},"accession":"S-EPMC5973167","cross_references":{"pubmed":["29693488"],"doi":["10.1080/19491034.2018.1467722"]}}