{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T01:07:54Z","timestamp":1792285674413,"version":"4.4.0"},"reference-count":38,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2015,10,10]],"date-time":"2015-10-10T00:00:00Z","timestamp":1444435200000},"content-version":"vor","delay-in-days":70,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"NIH","award":["DK-25387"],"award-info":[{"award-number":["DK-25387"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cytoskeleton"],"published-print":{"date-parts":[[2015,8]]},"abstract":"<jats:p>In mice and humans, loss of myosin VI (Myo6) function results in deafness, and certain Myo6 mutations also result in cardiomyopathies in humans. The current studies have utilized the<jats:italic>Snell's waltzer<\/jats:italic>(<jats:italic>sv<\/jats:italic>) mouse (a functional null mutation for Myo6) to determine if this mouse also exhibits cardiac defects and thus used to determine the cellular and molecular basis for Myo6\u2010associated heart disease. Myo6 is expressed in mouse heart where it is predominantly expressed in vascular endothelial cells (VECs) based on co\u2010localization with the VEC cell marker CD31.<jats:italic>Sv\/sv<\/jats:italic>heart mass is significantly greater than that of<jats:italic>sv\/+<\/jats:italic>littermates, a result of left ventricle hypertrophy. The left ventricle of the<jats:italic>sv\/sv<\/jats:italic>exhibits extensive fibrosis, both interstitial and perivascular, based on histologic staining, and immunolocalization of several markers for fibrosis including fibronectin, collagen IV, and the fibroblast marker vimentin. Myo6 is also expressed in lung VECs but not in VECs of intestine, kidney, or liver.<jats:italic>Sv\/sv<\/jats:italic>lungs exhibit increased periaveolar fibrosis and enlarged air sacs. Electron microscopy of<jats:italic>sv\/sv<\/jats:italic>cardiac and lung VECs revealed abnormal ultrastructure, including luminal protrusions and increased numbers of cytoplasmic vesicles. Previous studies have shown that loss of function of either Myo6 or its adaptor binding partner synectin\/GIPC results in impaired arterial development due to defects in VEGF signaling. However, examination of synectin\/GIPC\u2212\/\u2212 heart revealed no fibrosis or significantly altered VEC ultrastructure, suggesting that the cardiac and lung defects observed in the<jats:italic>sv\/sv<\/jats:italic>mouse are not due to Myo6 function in arterial development. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/cm.21236","type":"journal-article","created":{"date-parts":[[2015,8,12]],"date-time":"2015-08-12T09:00:53Z","timestamp":1439370053000},"page":"373-387","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Myosin<scp>VI<\/scp>and cardiomyopathy: Left ventricular hypertrophy, fibrosis, and both cardiac and pulmonary vascular endothelial cell defects in the<scp>S<\/scp>nell's waltzer mouse"],"prefix":"10.1002","volume":"72","author":[{"given":"Peter S.","family":"Hegan","sequence":"first","affiliation":[{"name":"Department of Molecular, Cellular and Developmental Biology Yale University New Haven Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony A.","family":"Lanahan","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Yale School of Medicine New Haven Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Simons","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Yale School of Medicine New Haven Connecticut"},{"name":"Department of Cell Biology Yale School of Medicine New Haven Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark S.","family":"Mooseker","sequence":"additional","affiliation":[{"name":"Department of Molecular, Cellular and Developmental Biology Yale University New Haven Connecticut"},{"name":"Department of Cell Biology Yale School of Medicine New Haven Connecticut"},{"name":"Department of Pathology Yale School of Medicine New Haven Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,10,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/375122"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0854.2007.00587.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1295-369"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1103086108"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-9896(200002)190:3<387::AID-PATH595>3.0.CO;2-R"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1042\/BST0370966"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.00380.2002"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110.127613"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1177\/002215540104900401"},{"key":"e_1_2_6_11_1","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1002\/cm.20435","article-title":"Altered renal proximal tubular endocytosis and histology in mice lacking myosin\u2010VI","volume":"67","author":"Gotoh N","year":"2010","journal-title":"Cytoskeleton (Hoboken)"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.137.6.1287"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.127.2.425"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/cm.21018"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpheart.00133.2005"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00418-015-1322-6"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00418-012-1070-9"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI10259"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4614-1222-9_2"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2010.02.016"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-011-0739-1"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mvr.2007.03.004"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.2353\/ajpath.2006.050834"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12265-011-9266-2"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1086\/323156"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.011973"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.67.3.725"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200410091"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm2122"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M109.012328"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1999.9424"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200506103"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10456-005-9014-9"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.095554"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajplung.2001.281.6.L1512"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra0902923"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-10-038893"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/46835"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.heares.2013.02.006"}],"container-title":["Cytoskeleton"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fcm.21236","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/cm.21236","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,10]],"date-time":"2024-06-10T13:57:03Z","timestamp":1718027823000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/cm.21236"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,8]]},"references-count":38,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2015,8]]}},"alternative-id":["10.1002\/cm.21236"],"URL":"https:\/\/doi.org\/10.1002\/cm.21236","archive":["Portico"],"relation":{},"ISSN":["1949-3584","1949-3592"],"issn-type":[{"value":"1949-3584","type":"print"},{"value":"1949-3592","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,8]]},"assertion":[{"value":"2015-06-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2015-08-07","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2015-10-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}