{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["12(2)"],"submitter":["Perrot A"],"pubmed_abstract":["<h4>Introduction</h4>Transgenic mice overexpressing mutated NEBL, encoding the cardiac-specific Z-disk protein nebulette, develop severe cardiac phenotypes. Since cardiomyopathies are commonly familial and because mutations in a single gene may result in variable phenotypes, we tested the hypothesis that NEBL mutations are associated with cardiomyopathy.<h4>Material and methods</h4>We analyzed 389 patients, including cohorts of patients with dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), and left ventricular non-compaction cardiomyopathy (LVNC). The 28 coding exons of the NEBL gene were sequenced. Further bioinformatic analysis was used to distinguish variants.<h4>Results</h4>In total, we identified six very rare heterozygous missense mutations in NEBL in 7 different pati"],"journal":["Archives of medical science : AMS"],"pagination":["263-78"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4848357"],"repository":["biostudies-literature"],"pubmed_title":["Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies."],"pmcid":["PMC4848357"],"pubmed_authors":["Lohmann N","Faludi R","Melacini P","Angelini A","Sperling SR","Simor T","Charron P","De Bortoli M","Perrot A","Varga-Szemes A","Richard P","Villard E","Veselka J","Tomasov P","Ozcelik C","Lossie J"],"additional_accession":[]},"is_claimable":false,"name":"Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies.","description":"<h4>Introduction</h4>Transgenic mice overexpressing mutated NEBL, encoding the cardiac-specific Z-disk protein nebulette, develop severe cardiac phenotypes. Since cardiomyopathies are commonly familial and because mutations in a single gene may result in variable phenotypes, we tested the hypothesis that NEBL mutations are associated with cardiomyopathy.<h4>Material and methods</h4>We analyzed 389 patients, including cohorts of patients with dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), and left ventricular non-compaction cardiomyopathy (LVNC). The 28 coding exons of the NEBL gene were sequenced. Further bioinformatic analysis was used to distinguish variants.<h4>Results</h4>In total, we identified six very rare heterozygous missense mutations in NEBL in 7 different pati","dates":{"release":"2016-01-01T00:00:00Z","publication":"2016 Apr","modification":"2025-04-21T14:41:56.155Z","creation":"2019-03-27T02:12:35Z"},"accession":"S-EPMC4848357","cross_references":{"pubmed":["27186169"],"doi":["10.5114/aoms.2016.59250"]}}