{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T17:53:15Z","timestamp":1775929995637,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"name":"Russian Federal Program \u201cScientific and Educational Recourses in Russian Innovation\u201d","award":["14.740.11.0628"],"award-info":[{"award-number":["14.740.11.0628"]}]},{"name":"Russian Federal Program \u201cScientific and Educational Recourses in Russian Innovation\u201d","award":["14-15-00745"],"award-info":[{"award-number":["14-15-00745"]}]},{"name":"Russian Scientific Foundation","award":["14.740.11.0628"],"award-info":[{"award-number":["14.740.11.0628"]}]},{"name":"Russian Scientific Foundation","award":["14-15-00745"],"award-info":[{"award-number":["14-15-00745"]}]},{"DOI":"10.13039\/501100003793","name":"Swedish Heart-Lung Foundation","doi-asserted-by":"crossref","award":["14.740.11.0628"],"award-info":[{"award-number":["14.740.11.0628"]}],"id":[{"id":"10.13039\/501100003793","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100003793","name":"Swedish Heart-Lung Foundation","doi-asserted-by":"crossref","award":["14-15-00745"],"award-info":[{"award-number":["14-15-00745"]}],"id":[{"id":"10.13039\/501100003793","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p><jats:italic>Background<\/jats:italic>. Congenital heart defects (CHDs) often have genetic background due to missense mutations in cardiomyocyte-specific genes. For example, cardiac actin was shown to be involved in pathogenesis of cardiac septum defects and smooth muscle actin in pathogenesis of aortic aneurysm in combination with patent ductus arteriosus (PDA). In the present study, we further searched for mutations in human<jats:italic>\u03b1<\/jats:italic>-cardiac actin (<jats:italic>ACTC1<\/jats:italic>) and smooth muscle<jats:italic>\u03b1<\/jats:italic>-actin (<jats:italic>ACTA2<\/jats:italic>) genes as a possible cause of atrial septum defect type II (ASDII) and PDA.<jats:italic>Findings<\/jats:italic>. Total genomic DNA was extracted from peripheral blood of 86 individuals with ASDs and 100 individuals with PDA. Coding exons and flanking intron regions of<jats:italic>ACTC1<\/jats:italic>(NM_005159.4) and<jats:italic>ACTA2<\/jats:italic>(NM_001613) were amplified by PCR with specific primers designed according to the corresponding gene reference sequences. PCR fragments were directly sequenced and analyzed. Sequence analysis of<jats:italic>ACTC1<\/jats:italic>and<jats:italic>ACTA2<\/jats:italic>did not identify any nucleotide changes that altered the coding sense of the genes. In<jats:italic>ACTC1<\/jats:italic>gene, we were able to detect one previously described nucleotide polymorphism (rs2307493) resulting in a synonymous substitution. The frequency of this SNP was similar in the study and control group, thus excluding it from the possible disease-associated variants.<jats:italic>Conclusions<\/jats:italic>. Our results confirmed that the mutations in<jats:italic>ACTC1<\/jats:italic>gene are rare (at least &lt;1%) cause of ASDII. Mutations in<jats:italic>ACTA2<\/jats:italic>gene were not detected in patients with PDA, thus being excluded from the list of frequent PDA-associated genetic defects.<\/jats:p>","DOI":"10.1155\/2015\/127807","type":"journal-article","created":{"date-parts":[[2015,3,10]],"date-time":"2015-03-10T17:33:49Z","timestamp":1426008829000},"page":"1-3","source":"Crossref","is-referenced-by-count":6,"title":["Congenital Heart Defects Are Rarely Caused by Mutations in Cardiac and Smooth Muscle Actin Genes"],"prefix":"10.1155","volume":"2015","author":[{"given":"Tatiana","family":"Khodyuchenko","sequence":"first","affiliation":[{"name":"Institute of Molecular Biology and Genetics, Federal Almazov Medical Research Centre, 2 Akkuratova Street, Saint-Petersburg 197341, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Zlotina","sequence":"additional","affiliation":[{"name":"Institute of Molecular Biology and Genetics, Federal Almazov Medical Research Centre, 2 Akkuratova Street, Saint-Petersburg 197341, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatiana","family":"Pervunina","sequence":"additional","affiliation":[{"name":"Institute of Molecular Biology and Genetics, Federal Almazov Medical Research Centre, 2 Akkuratova Street, Saint-Petersburg 197341, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dmitry","family":"Zverev","sequence":"additional","affiliation":[{"name":"Endovascular Surgery Department, Federal Almazov Medical Research Centre, 2 Akkuratova Street, Saint-Petersburg 197341, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Malashicheva","sequence":"additional","affiliation":[{"name":"Institute of Molecular Biology and Genetics, Federal Almazov Medical Research Centre, 2 Akkuratova Street, Saint-Petersburg 197341, Russia"},{"name":"St. Petersburg State University, Universitetskaya Nab. 7\/9, St. Petersburg 199034, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Kostareva","sequence":"additional","affiliation":[{"name":"Institute of Molecular Biology and Genetics, Federal Almazov Medical Research Centre, 2 Akkuratova Street, Saint-Petersburg 197341, Russia"},{"name":"Department of Women and Child Health, Karolinska Institute, and Centre for Molecular Medicine, 17176 Stockholm, Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01009.x"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1161\/circresaha.112.300853"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.3346\/jkms.2012.27.8.948"},{"issue":"1","key":"4","first-page":"104","volume":"24","year":"2004","journal-title":"Human mutation"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1086\/519530"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn187"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.00985.x"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehm239"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1038\/ng1526"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1161\/circgenetics.110.957985"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm302"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1007\/s00392-009-0095-0"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36275"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-011-0024-7"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21081"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1038\/ng1721"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951107001473"}],"container-title":["BioMed Research International"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2015\/127807.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2015\/127807.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2015\/127807.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2016,7,27]],"date-time":"2016-07-27T08:36:18Z","timestamp":1469608578000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/bmri\/2015\/127807\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":17,"alternative-id":["127807","127807"],"URL":"https:\/\/doi.org\/10.1155\/2015\/127807","relation":{},"ISSN":["2314-6133","2314-6141"],"issn-type":[{"value":"2314-6133","type":"print"},{"value":"2314-6141","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015]]}}}