{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T16:44:14Z","timestamp":1791477854002,"version":"4.3.4"},"reference-count":28,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circulation Research"],"published-print":{"date-parts":[[2007,7,20]]},"abstract":"<jats:p>\n                    The\n                    <jats:italic>Drosophila scribble<\/jats:italic>\n                    gene regulates apical-basal polarity and is implicated in control of cellular architecture and cell growth control. Mutations in mammalian\n                    <jats:italic>Scrib<\/jats:italic>\n                    (\n                    <jats:italic>circletail<\/jats:italic>\n                    ;\n                    <jats:italic>Crc<\/jats:italic>\n                    mutant) also result in abnormalities suggestive of roles in planar cell polarity regulation. We show that\n                    <jats:italic>Crc<\/jats:italic>\n                    mutants develop heart malformations and cardiomyopathy attributable to abnormalities in cardiomyocyte organization within the early heart tube. N-Cadherin is lost from the cardiomyocyte cell membrane and cell\u2013cell adhesion is disrupted. This results in abnormalities in heart looping and formation of both the trabeculae and compact myocardium, which ultimately results in cardiac misalignment defects and ventricular noncompaction. Thus, these late abnormalities arise from defects occurring at the earliest stages of heart development. Mislocalization of Vangl2 in\n                    <jats:italic>Crc\/Crc<\/jats:italic>\n                    cardiomyocytes suggests Scrib is acting in the planar cell polarity pathway in this tissue. Moreover, double heterozygosity for mutations in both\n                    <jats:italic>Scrib<\/jats:italic>\n                    and\n                    <jats:italic>Vangl2<\/jats:italic>\n                    can cause cardiac defects similar to those found in homozygous mutants for each gene but without other major defects. We propose that heterozygosity for mutations in different genes in the planar cell polarity pathway may be an important mechanism for congenital heart defects and cardiomyopathy in humans.\n                  <\/jats:p>","DOI":"10.1161\/circresaha.106.142406","type":"journal-article","created":{"date-parts":[[2007,6,7]],"date-time":"2007-06-07T21:11:22Z","timestamp":1181250682000},"page":"137-145","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":129,"title":["Disruption of Planar Cell Polarity Signaling Results in Congenital Heart Defects and Cardiomyopathy Attributable to Early Cardiomyocyte Disorganization"],"prefix":"10.1161","volume":"101","author":[{"given":"Helen M.","family":"Phillips","sequence":"first","affiliation":[{"name":"From the Institute of Human Genetics (H.M.P., H.J.R., V.H., J.D.P., B.C., D.J.H.), Newcastle University, Newcastle upon Tyne; Medical Research Council Mammalian Genetics Unit (J.N.M.), Harwell, Oxon; and Cardiac Unit (R.H.A.) and Neural Development Unit (A.J.C.), Institute of Child Health, University College London, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong Jun","family":"Rhee","sequence":"additional","affiliation":[{"name":"From the Institute of Human Genetics (H.M.P., H.J.R., V.H., J.D.P., B.C., D.J.H.), Newcastle University, Newcastle upon Tyne; Medical Research Council Mammalian Genetics Unit (J.N.M.), Harwell, Oxon; and Cardiac Unit (R.H.A.) and Neural Development Unit (A.J.C.), Institute of Child Health, University College London, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer N.","family":"Murdoch","sequence":"additional","affiliation":[{"name":"From the Institute of Human Genetics (H.M.P., H.J.R., V.H., J.D.P., B.C., D.J.H.), Newcastle University, Newcastle upon Tyne; Medical Research Council Mammalian Genetics Unit (J.N.M.), Harwell, Oxon; and Cardiac Unit (R.H.A.) and Neural Development Unit (A.J.C.), Institute of Child Health, University College London, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"Hildreth","sequence":"additional","affiliation":[{"name":"From the Institute of Human Genetics (H.M.P., H.J.R., V.H., J.D.P., B.C., D.J.H.), Newcastle University, Newcastle upon Tyne; Medical Research Council Mammalian Genetics Unit (J.N.M.), Harwell, Oxon; and Cardiac Unit (R.H.A.) and Neural Development Unit (A.J.C.), Institute of Child Health, University College London, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan D.","family":"Peat","sequence":"additional","affiliation":[{"name":"From the Institute of Human Genetics (H.M.P., H.J.R., V.H., J.D.P., B.C., D.J.H.), Newcastle University, Newcastle upon Tyne; Medical Research Council Mammalian Genetics Unit (J.N.M.), Harwell, Oxon; and Cardiac Unit (R.H.A.) and Neural Development Unit (A.J.C.), Institute of Child Health, University College London, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert H.","family":"Anderson","sequence":"additional","affiliation":[{"name":"From the Institute of Human Genetics (H.M.P., H.J.R., V.H., J.D.P., B.C., D.J.H.), Newcastle University, Newcastle upon Tyne; Medical Research Council Mammalian Genetics Unit (J.N.M.), Harwell, Oxon; and Cardiac Unit (R.H.A.) and Neural Development Unit (A.J.C.), Institute of Child Health, University College London, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew J.","family":"Copp","sequence":"additional","affiliation":[{"name":"From the Institute of Human Genetics (H.M.P., H.J.R., V.H., J.D.P., B.C., D.J.H.), Newcastle University, Newcastle upon Tyne; Medical Research Council Mammalian Genetics Unit (J.N.M.), Harwell, Oxon; and Cardiac Unit (R.H.A.) and Neural Development Unit (A.J.C.), Institute of Child Health, University College London, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bill","family":"Chaudhry","sequence":"additional","affiliation":[{"name":"From the Institute of Human Genetics (H.M.P., H.J.R., V.H., J.D.P., B.C., D.J.H.), Newcastle University, Newcastle upon Tyne; Medical Research Council Mammalian Genetics Unit (J.N.M.), Harwell, Oxon; and Cardiac Unit (R.H.A.) and Neural Development Unit (A.J.C.), Institute of Child Health, University College London, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah J.","family":"Henderson","sequence":"additional","affiliation":[{"name":"From the Institute of Human Genetics (H.M.P., H.J.R., V.H., J.D.P., B.C., D.J.H.), Newcastle University, Newcastle upon Tyne; Medical Research Council Mammalian Genetics Unit (J.N.M.), Harwell, Oxon; and Cardiac Unit (R.H.A.) and Neural Development Unit (A.J.C.), Institute of Child Health, University College London, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_3_1_2","unstructured":"Burn J and Goodship J. Congenital heart disease. In: Rimoin DL Connor JM Pyeritz RE Korf BR eds. Emery and Rimoin\u2019s Principles and Practice of Medical Genetics. 5th ed. 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