{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Greaser ML"],"funding":["NHLBI NIH HHS"],"pagination":["983-991"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC2501117"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["44(6)"],"pubmed_abstract":["Titin is a very large alternatively spliced protein that performs multiple functions in heart and skeletal muscles. A rat strain is described with an autosomal dominant mutation that alters the isoform expression of titin. While wild type animals go through a developmental program where the 3.0 MDa N2B becomes the major isoform expressed by two to three weeks after birth (approximately 85%), the appearance of the N2B is markedly delayed in heterozygotes and never reaches more than 50% of the titin in the adult. Homozygote mutants express a giant titin of the N2BA isoform type (3.9 MDa) that persists as the primary titin species through ages of more than one and a half years. The mutation does not affect the isoform switching of troponin T, a protein that is also alternatively spliced with "],"journal":["Journal of molecular and cellular cardiology"],"pubmed_title":["Mutation that dramatically alters rat titin isoform expression and cardiomyocyte passive tension."],"pmcid":["PMC2501117"],"funding_grant_id":["R37 HL082900","R01 HL077196","R37 HL82900","R01 HL77196"],"pubmed_authors":["Dunning S","Esbona K","Parrish AM","Warren CM","Guo W","Fitzsimons DP","Krzesinski PR","Moss RL","Greaser ML","Norman HS","Duan Y"],"additional_accession":[]},"is_claimable":false,"name":"Mutation that dramatically alters rat titin isoform expression and cardiomyocyte passive tension.","description":"Titin is a very large alternatively spliced protein that performs multiple functions in heart and skeletal muscles. A rat strain is described with an autosomal dominant mutation that alters the isoform expression of titin. While wild type animals go through a developmental program where the 3.0 MDa N2B becomes the major isoform expressed by two to three weeks after birth (approximately 85%), the appearance of the N2B is markedly delayed in heterozygotes and never reaches more than 50% of the titin in the adult. Homozygote mutants express a giant titin of the N2BA isoform type (3.9 MDa) that persists as the primary titin species through ages of more than one and a half years. The mutation does not affect the isoform switching of troponin T, a protein that is also alternatively spliced with ","dates":{"release":"2008-01-01T00:00:00Z","publication":"2008 Jun","modification":"2026-04-08T00:26:12.818Z","creation":"2019-03-27T00:16:07Z"},"accession":"S-EPMC2501117","cross_references":{"pubmed":["18387630"],"doi":["10.1016/j.yjmcc.2008.02.272"]}}