{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T18:26:58Z","timestamp":1777660018012,"version":"3.51.4"},"reference-count":31,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2010,11,22]],"date-time":"2010-11-22T00:00:00Z","timestamp":1290384000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2010,12,1]]},"abstract":"<jats:p>\n                    Congenital heart disease (CHD) is a common congenital birth defect, affecting nearly 1% of all live births, and is the most common cause of infant death.\n                    <jats:italic toggle=\"yes\">NKX2.5<\/jats:italic>\n                    is an important transcription factor expressed during vertebrate heart development and involved in the regulation of septation during cardiac morphogenesis and in the maturation and maintenance of the atrioventricular node throughout life. There are many reports on association of single-nucleotide polymorphisms (SNPs) of\n                    <jats:italic toggle=\"yes\">NKX2.5<\/jats:italic>\n                    with CHD but none have been reported from Mysore, South India. With informed consent, 150 clinically diagnosed CHD patients and 70 unrelated healthy controls in Mysore, South India, were recruited. In the first phase the DNAs of 50 CHD patients and 20 controls were subjected to polymerase chain reaction amplification of coding regions of\n                    <jats:italic toggle=\"yes\">NKX2.5<\/jats:italic>\n                    and further sequenced for SNP genotyping. Additionally, mass array analysis of SNPs was performed for 100 CHD and 50 controls. Analysis revealed the occurrence of six SNPs in different types of CHDs. Two were synonymous SNPs, the most common c.239A&gt;G (p.E21E) and newly identified c.896C&gt;A (p.A240A), as well as three nonsynonymous SNPs, c.608A&gt;G (p.E203G), c.646C&gt;T (p.R216C), and c.852G&gt;A (p.N226D). The sixth SNP 1212G&gt;T in the 3\u2032UTR was observed in 40% of the CHD cases. The SNPs c.646C&gt;T and c.608A&gt;G were shown to cause changes in their secondary structure. Ventricular septal defect was the more prominent CHD observed in our study population. The SNPs c.608A&gt;G (p.E203G) and c.852G&gt;A (p.N226D) were present only in CHD patients, indicating their association with CHDs.\n                  <\/jats:p>","DOI":"10.1089\/gtmb.2010.0100","type":"journal-article","created":{"date-parts":[[2010,11,22]],"date-time":"2010-11-22T16:14:44Z","timestamp":1290442484000},"page":"873-879","source":"Crossref","is-referenced-by-count":15,"title":["Single-Nucleotide Polymorphisms of\n                    <i>NKX2.5<\/i>\n                    Found in Congenital Heart Disease Patients of Mysore, South India"],"prefix":"10.1177","volume":"14","author":[{"given":"S.M.","family":"Dinesh","sequence":"first","affiliation":[{"name":"University of Mysore","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Kusuma","sequence":"additional","affiliation":[{"name":"University of Mysore","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Smitha","sequence":"additional","affiliation":[{"name":"University of Mysore","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.R.","family":"Savitha","sequence":"additional","affiliation":[{"name":"Cheluvamba Hospital","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Krishnamurthy","sequence":"additional","affiliation":[{"name":"Cheluvamba Hospital","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Narayanappa","sequence":"additional","affiliation":[{"name":"JSS Medical College and Hospital","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nallur B.","family":"Ramachandra","sequence":"additional","affiliation":[{"name":"University of Mysore","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2010,11,22]]},"reference":[{"key":"e_1_3_3_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-007-9058-2"},{"key":"e_1_3_3_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI8154"},{"key":"e_1_3_3_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature06801"},{"key":"e_1_3_3_5_1","first-page":"1114","article-title":"Preliminary exploration of transcription factor NKX2.5 mutations and congenital heart diseases","volume":"16","author":"Ding JD","year":"2009","unstructured":"Ding JD, , Li KR, , Zhang XL et al. 2009. Preliminary exploration of transcription factor NKX2.5 mutations and congenital heart diseases. Zhonghua Yi Xueza Zhi, 16:1114-1116.","journal-title":"Zhonghua Yi Xueza Zhi"},{"key":"e_1_3_3_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.060277"},{"key":"e_1_3_3_7_1","doi-asserted-by":"publisher","DOI":"10.1161\/hc4601.098427"},{"key":"e_1_3_3_8_1","first-page":"1","article-title":"Progessive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX\/NKX2-5 gene","volume":"512","author":"Gutierrez-Roelens I","year":"2002","unstructured":"Gutierrez-Roelens I, , Sluysmans T, , Gewillig M et al. 2002. Progessive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX\/NKX2-5 gene. Hum Mutat, 512:1-7.","journal-title":"Hum Mutat"},{"key":"e_1_3_3_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201702"},{"key":"e_1_3_3_10_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951109990813"},{"key":"e_1_3_3_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30684"},{"key":"e_1_3_3_12_1","first-page":"55","article-title":"Genetic studies of congenital heart defects in Egyptian patients","volume":"4","author":"Hussein IR","year":"2009","unstructured":"Hussein IR, , El-Rubi M, , Helmy NA et al. 2009. Genetic studies of congenital heart defects in Egyptian patients. Res J Med Med Sci, 4:55-66.","journal-title":"Res J Med Med Sci"},{"key":"e_1_3_3_13_1","doi-asserted-by":"publisher","DOI":"10.1253\/circj.66.561"},{"key":"e_1_3_3_14_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI9860"},{"key":"e_1_3_3_15_1","doi-asserted-by":"publisher","DOI":"10.1089\/gte.2007.0122"},{"key":"e_1_3_3_16_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1138239"},{"key":"e_1_3_3_17_1","first-page":"696","article-title":"Mutations of NKX2.5 gene in patients with atrial septal defect","volume":"9","author":"Liu XY","year":"2009","unstructured":"Liu XY, , Yang YQ, , Yang Y et al. 2009. Mutations of NKX2.5 gene in patients with atrial septal defect. Zhonghua Er Ke Za Zhi, 9:696-700.","journal-title":"Zhonghua Er Ke Za Zhi"},{"key":"e_1_3_3_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2003.05.004"},{"key":"e_1_3_3_19_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.semtcvs.2007.07.013"},{"key":"e_1_3_3_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32042"},{"key":"e_1_3_3_21_1","doi-asserted-by":"publisher","DOI":"10.4103\/0971-6866.16289"},{"key":"e_1_3_3_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkf493"},{"key":"e_1_3_3_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)63770-4"},{"key":"e_1_3_3_24_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.281.5373.108"},{"key":"e_1_3_3_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05616"},{"key":"e_1_3_3_26_1","doi-asserted-by":"publisher","DOI":"10.1080\/09723757.2010.11886096"},{"key":"e_1_3_3_27_1","first-page":"12","article-title":"Prevalence of congenital heart diseases in Mysore","volume":"12","author":"Smitha R","year":"2006","unstructured":"Smitha R, , Karat SC, , Narayanappa D et al. 2006. Prevalence of congenital heart diseases in Mysore. Indian J Hum Genet, 12:12-17.","journal-title":"Indian J Hum Genet"},{"key":"e_1_3_3_28_1","doi-asserted-by":"publisher","DOI":"10.1080\/03014460600909349"},{"key":"e_1_3_3_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1007-4376(07)60049-5"},{"key":"e_1_3_3_30_1","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.issn.0366-6999.2009.04.0011"},{"key":"e_1_3_3_31_1","doi-asserted-by":"publisher","DOI":"10.2217\/pgs.09.101"},{"key":"e_1_3_3_32_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2008.0044"}],"container-title":["Genetic Testing and Molecular Biomarkers"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1089\/gtmb.2010.0100","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/gtmb.2010.0100","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/gtmb.2010.0100","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T07:21:18Z","timestamp":1777447278000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1089\/gtmb.2010.0100"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,11,22]]},"references-count":31,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2010,12,1]]}},"alternative-id":["10.1089\/gtmb.2010.0100"],"URL":"https:\/\/doi.org\/10.1089\/gtmb.2010.0100","relation":{},"ISSN":["1945-0265","1945-0257"],"issn-type":[{"value":"1945-0265","type":"print"},{"value":"1945-0257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,11,22]]}}}