{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T18:35:11Z","timestamp":1777660511918,"version":"3.51.4"},"reference-count":28,"publisher":"SAGE Publications","issue":"8","license":[{"start":{"date-parts":[[2012,7,11]],"date-time":"2012-07-11T00:00:00Z","timestamp":1341964800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2012,8,1]]},"abstract":"<jats:p>\n                    <jats:italic toggle=\"yes\">Aims:<\/jats:italic>\n                    Ventricular septal defect (VSD) is the most common congenital heart disease (CHD). A number of genetic studies have linked the gene of\n                    <jats:italic toggle=\"yes\">PLAGL1<\/jats:italic>\n                    to the etiology of CHD. The present study aimed to identify potential pathogenic mutations for\n                    <jats:italic toggle=\"yes\">PLAGL1<\/jats:italic>\n                    and to provide insights into the etiology of isolated VSD.\n                    <jats:italic toggle=\"yes\">Methods:<\/jats:italic>\n                    Case-control mutational analysis was performed in 300 patients with isolated VSD and 300 healthy controls. Two protein-coding extons of\n                    <jats:italic toggle=\"yes\">PLAGL1<\/jats:italic>\n                    and their partial flanking intron sequences were amplified by polymerase chain reaction and sequenced on an ABI3730 Automated Sequencer. CLC workbench software was used to compare the conservatism of PLAGL1 protein with other multiple species.\n                    <jats:italic toggle=\"yes\">Results:<\/jats:italic>\n                    Neither missense nor frame-shift mutations were detected in two protein-coding extons of\n                    <jats:italic toggle=\"yes\">PLAGL1<\/jats:italic>\n                    . But a novel synonymous variation (c.486A&gt;G, p. E162E) was detected in protein-coding exon-2. The glutamic that translated with the mutational codon is conservative when compared with other species.\n                    <jats:italic toggle=\"yes\">Conclusions:<\/jats:italic>\n                    We detected a synonymous variation in the protein-coding exon-2 of\n                    <jats:italic toggle=\"yes\">PLAGL1<\/jats:italic>\n                    in isolated VSD patients. It is possible that the etiology of isolated VSD might not be directly linked with this mutation, but might be associated with other patterns of gene expression regulation in\n                    <jats:italic toggle=\"yes\">PLAGL1<\/jats:italic>\n                    , such as in the methylation-dependent manner.\n                  <\/jats:p>","DOI":"10.1089\/gtmb.2012.0003","type":"journal-article","created":{"date-parts":[[2012,7,11]],"date-time":"2012-07-11T14:59:10Z","timestamp":1342018750000},"page":"984-987","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":13,"title":["A Novel Variation of\n                    <i>PLAGL1<\/i>\n                    in Chinese Patients with Isolated Ventricular Septal Defect"],"prefix":"10.1177","volume":"16","author":[{"given":"Chao","family":"Xuan","sequence":"first","affiliation":[{"name":"Nankai University","place":["PR China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bin-Bin","family":"Wang","sequence":"additional","affiliation":[{"name":"National Research Institute for Family Planning","place":["PR China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ge","family":"Gao","sequence":"additional","affiliation":[{"name":"Nankai University","place":["PR China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao-Yan","family":"Bai","sequence":"additional","affiliation":[{"name":"Nankai University","place":["PR China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qin","family":"Yang","sequence":"additional","affiliation":[{"name":"Nankai University","place":["PR China"]},{"name":"The Chinese University of Hong Kong","place":["PR China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao-Cheng","family":"Liu","sequence":"additional","affiliation":[{"name":"Nankai University","place":["PR China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen-Bin","family":"Jing","sequence":"additional","affiliation":[{"name":"Nankai University","place":["PR China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xu","family":"Ma","sequence":"additional","affiliation":[{"name":"National Research Institute for Family Planning","place":["PR China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guo-Wei","family":"He","sequence":"additional","affiliation":[{"name":"Nankai University","place":["PR China"]},{"name":"Oregon Health and Science University"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2012,7,11]]},"reference":[{"key":"e_1_3_3_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gki555"},{"key":"e_1_3_3_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000090839"},{"key":"e_1_3_3_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1204237"},{"key":"e_1_3_3_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.233"},{"key":"e_1_3_3_6_1","doi-asserted-by":"publisher","DOI":"10.1590\/S0100-879X2006000700011"},{"key":"e_1_3_3_7_1","first-page":"16","article-title":"Prevalence and pattern of congenital heart disease in Hazara","volume":"13","author":"Burki MK","year":"2001","unstructured":"Burki MK, , Babar GS. 2001. 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