{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,4,28]],"date-time":"2023-04-28T06:34:09Z","timestamp":1682663649027},"reference-count":24,"publisher":"Cambridge University Press (CUP)","issue":"3","license":[{"start":{"date-parts":[[2011,11,9]],"date-time":"2011-11-09T00:00:00Z","timestamp":1320796800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2012,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec id=\"S104795111100151X_abs1\" sec-type=\"general\"><jats:title>Background<\/jats:title><jats:p>In our recent study, we first reported that mutation in<jats:italic>vascular endothelial growth factor-A<\/jats:italic>is associated with bicuspid aortic valve stenosis. However, to date no groups have explored the role of<jats:italic>vascular endothelial growth factor-A<\/jats:italic>variations in the aetiology of congenital tricuspid aortic valve stenosis.<\/jats:p><\/jats:sec><jats:sec id=\"S104795111100151X_abs2\" sec-type=\"methods\"><jats:title>Methods<\/jats:title><jats:p>We sequenced all eight coding exons and exon\u2013intron boundaries of the<jats:italic>vascular endothelial growth factor-A<\/jats:italic>gene in deoxyribonucleic acid samples of a cohort of 32 sporadic patients with tricuspid aortic valve stenosis, 300 normal controls, and 103 disease controls \u2013 conotruncal defects \u2013 in order to identify sequence variants.<\/jats:p><\/jats:sec><jats:sec id=\"S104795111100151X_abs3\" sec-type=\"results\"><jats:title>Results<\/jats:title><jats:p>We identified a c.973C &gt; T heterozygous nonsense variation in exon 6 of the<jats:italic>vascular endothelial growth factor-A<\/jats:italic>gene in a patient with an isolated tricuspid aortic valve stenosis. The c.973C &gt; T variation, which was absent in all controls, changes a highly conserved arginine at amino acid position 325 to a stop codon (p.Arg325X) and is predicted to produce a truncated protein of 324 amino acid residues. The proband's parents had a normal cardiac phenotype; however, his father was a carrier of the p.Arg325X variation, which indicates that the p.Arg325X variation is inherited and incompletely penetrant.<\/jats:p><\/jats:sec><jats:sec id=\"S104795111100151X_abs4\" sec-type=\"conclusion\"><jats:title>Conclusion<\/jats:title><jats:p>We report for the first time that the p.Arg325X nonsense variation in the<jats:italic>vascular endothelial growth factor-A<\/jats:italic>gene may be associated with congenital tricuspid aortic valve stenosis.<\/jats:p><\/jats:sec>","DOI":"10.1017\/s104795111100151x","type":"journal-article","created":{"date-parts":[[2011,11,9]],"date-time":"2011-11-09T12:22:03Z","timestamp":1320841323000},"page":"316-322","source":"Crossref","is-referenced-by-count":2,"title":["A nonsense variation p.Arg325X in the<i>vascular endothelial growth factor-A<\/i>gene may be associated with congenital tricuspid aortic valve stenosis"],"prefix":"10.1017","volume":"22","author":[{"given":"Wu","family":"Zhao","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jian","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Shen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kun","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yiwei","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Ji","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lijun","family":"Fu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yurong","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fen","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2011,11,9]]},"reference":[{"key":"S104795111100151X_ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2010.04.124"},{"key":"S104795111100151X_ref21","first-page":"4123","article-title":"VEGF165b, an inhibitory splice variant of vascular endothelial growth factor, is down-regulated in renal cell carcinoma","volume":"62","author":"Bates","year":"2002","journal-title":"Cancer Res"},{"key":"S104795111100151X_ref24","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-009-0177-1"},{"key":"S104795111100151X_ref19","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.11.7151"},{"key":"S104795111100151X_ref18","doi-asserted-by":"crossref","first-page":"11947","DOI":"10.1016\/S0021-9258(18)99049-6","article-title":"The human gene for vascular endothelial growth factor. 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