| http://purl.uniprot.org/citations/32213617 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/32213617 | http://www.w3.org/2000/01/rdf-schema#comment | "The C57BL/6J and C57BL/6N mice have well-documented phenotypic and genotypic differences, including the infamous nicotinamide nucleotide transhydrogenase (Nnt) null mutation in the C57BL/6J substrain, which has been linked to cardiovascular traits in mice and cardiomyopathy in humans. To assess whether Nnt loss alone causes a cardiovascular phenotype, we investigated the C57BL/6N, C57BL/6J mice and a C57BL/6J-BAC transgenic rescuing NNT expression, at 3, 12, and 18 mo. We identified a modest dilated cardiomyopathy in the C57BL/6N mice, absent in the two B6J substrains. Immunofluorescent staining of cardiomyocytes revealed eccentric hypertrophy in these mice, with defects in sarcomere organisation. RNAseq analysis identified differential expression of a number of cardiac remodelling genes commonly associated with cardiac disease segregating with the phenotype. Variant calling from RNAseq data identified a myosin light chain kinase 3 (Mylk3) mutation in C57BL/6N mice, which abolishes MYLK3 protein expression. These results indicate the C57BL/6J Nnt-null mice do not develop cardiomyopathy; however, we identified a null mutation in Mylk3 as a credible cause of the cardiomyopathy phenotype in the C57BL/6N."xsd:string |
| http://purl.uniprot.org/citations/32213617 | http://purl.org/dc/terms/identifier | "doi:10.26508/lsa.201900593"xsd:string |
| http://purl.uniprot.org/citations/32213617 | http://purl.uniprot.org/core/author | "Stewart M."xsd:string |
| http://purl.uniprot.org/citations/32213617 | http://purl.uniprot.org/core/author | "Williams J.L."xsd:string |
| http://purl.uniprot.org/citations/32213617 | http://purl.uniprot.org/core/author | "Cox R.D."xsd:string |
| http://purl.uniprot.org/citations/32213617 | http://purl.uniprot.org/core/author | "Meimaridou E."xsd:string |
| http://purl.uniprot.org/citations/32213617 | http://purl.uniprot.org/core/author | "Metherell L.A."xsd:string |
| http://purl.uniprot.org/citations/32213617 | http://purl.uniprot.org/core/author | "Nicholson J."xsd:string |
| http://purl.uniprot.org/citations/32213617 | http://purl.uniprot.org/core/author | "Awad S."xsd:string |
| http://purl.uniprot.org/citations/32213617 | http://purl.uniprot.org/core/author | "Paudyal A."xsd:string |
| http://purl.uniprot.org/citations/32213617 | http://purl.uniprot.org/core/author | "Tinker A."xsd:string |
| http://purl.uniprot.org/citations/32213617 | http://purl.uniprot.org/core/author | "Botta J."xsd:string |
| http://purl.uniprot.org/citations/32213617 | http://purl.uniprot.org/core/author | "Grzesik D."xsd:string |
| http://purl.uniprot.org/citations/32213617 | http://purl.uniprot.org/core/author | "Maharaj A.V."xsd:string |
| http://purl.uniprot.org/citations/32213617 | http://purl.uniprot.org/core/date | "2020"xsd:gYear |
| http://purl.uniprot.org/citations/32213617 | http://purl.uniprot.org/core/name | "Life Sci Alliance"xsd:string |
| http://purl.uniprot.org/citations/32213617 | http://purl.uniprot.org/core/pages | "e201900593"xsd:string |
| http://purl.uniprot.org/citations/32213617 | http://purl.uniprot.org/core/title | "Mylk3 null C57BL/6N mice develop cardiomyopathy, whereas Nnt null C57BL/6J mice do not."xsd:string |
| http://purl.uniprot.org/citations/32213617 | http://purl.uniprot.org/core/volume | "3"xsd:string |
| http://purl.uniprot.org/citations/32213617 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/32213617 |
| http://purl.uniprot.org/citations/32213617 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/32213617 |
| http://purl.uniprot.org/uniprot/#_B2RQL6-mappedCitation-32213617 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/32213617 |
| http://purl.uniprot.org/uniprot/#_E9Q8F4-mappedCitation-32213617 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/32213617 |
| http://purl.uniprot.org/uniprot/#_D3Z630-mappedCitation-32213617 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/32213617 |