{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,17]],"date-time":"2024-07-17T22:00:57Z","timestamp":1721253657561},"reference-count":38,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circulation Research"],"published-print":{"date-parts":[[2012,3,2]]},"abstract":"<jats:p>\n            The study of single gene disorders often provides insight for more complex human disease. Mutations in the genes encoding the dystrophin protein complex cause muscular dystrophy and cardiomyopathy by destabilizing the plasma membrane of skeletal myofibers and cardiomyocytes. In these diseases, progressive skeletal muscle degeneration and weakness contribute to cardiac dysfunction. Moreover, the pace and pattern of muscle weakness, along with onset of cardiomyopathy, is highly variable even when associated with the same identical mutation. Using a mouse model of muscular dystrophy and cardiomyopathy, we identified genetic loci that modify muscle pathology and cardiac fibrosis. Distinct genetic modifiers were identified for diaphragm and abdominal musculature, and these genetic intervals differ from those that regulate pathology in the skeletal muscle of the limbs and the heart. One modifier gene was identified and highlights the importance of the transforming growth factor-\u03b2 pathway in the pathogenesis of muscular dystrophy and cardiomyopathy. We determined that canonical transforming growth factor-\u03b2 signaling contributes to heart and muscle dysfunction using a\n            <jats:named-content content-type=\"genus-species\">Drosophila<\/jats:named-content>\n            model. Together, these studies demonstrate the value of using a genetically sensitized model to uncover pathways that regulate heart failure and muscle weakness.\n          <\/jats:p>","DOI":"10.1161\/circresaha.111.256776","type":"journal-article","created":{"date-parts":[[2012,3,2]],"date-time":"2012-03-02T19:35:01Z","timestamp":1330716901000},"page":"749-754","update-policy":"http:\/\/dx.doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":9,"title":["Interplay Between Heart and Skeletal Muscle Disease in Heart Failure"],"prefix":"10.1161","volume":"110","author":[{"given":"Elizabeth M.","family":"McNally","sequence":"first","affiliation":[{"name":"From the Department of Medicine (E.M.M.), the Department of Human Genetics (E.M.M.), the Committee on Molecular Medicine (E.M.M., J.A.G.), and the Department of Pathology (J.A.G.), The University of Chicago."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeffery A.","family":"Goldstein","sequence":"additional","affiliation":[{"name":"From the Department of Medicine (E.M.M.), the Department of Human Genetics (E.M.M.), the Committee on Molecular Medicine (E.M.M., J.A.G.), and the Department of Pathology (J.A.G.), The University of Chicago."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI100057"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI100085"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.res.0000116143.74830.a9"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.0000126574.61061.25"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.8.3710"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1096\/fj.01-0030fje"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.2010.05879.x"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000086478.87623.69"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.270.5237.819"},{"key":"e_1_3_4_11_2","first-page":"1040","article-title":"Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation","volume":"59","author":"McNally EM","year":"1996","unstructured":"McNally EM, Passos-Bueno MR, Bonnemann CG, Vainzof M, de Sa Moreira E, Lidov HG, Othmane KB, Denton PH, Vance JM, Zatz M, Kunkel LM. 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Brown Memorial Lecture"],"short-title":[],"issued":{"date-parts":[[2012,3,2]]},"references-count":38,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2012,3,2]]}},"alternative-id":["10.1161\/CIRCRESAHA.111.256776"],"URL":"https:\/\/doi.org\/10.1161\/circresaha.111.256776","relation":{},"ISSN":["0009-7330","1524-4571"],"issn-type":[{"value":"0009-7330","type":"print"},{"value":"1524-4571","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,3,2]]},"assertion":[{"value":"2011-12-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2012-01-03","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2012-03-02","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}