{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:10:06Z","timestamp":1761718206896,"version":"3.41.0"},"reference-count":16,"publisher":"Scientific Scholar","issue":"5","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2011,11]]},"abstract":"\n Background & objectives:<\/jats:title>\n Cardiac malformations in the young constitute a major portion of clinically significant birth defects. Congenital heart disease (CHD) is a common congenital cardiac birth defect, affecting nearly 1 per cent of all live births. Patent ductus arteriosus (PDA) is clinically significant foetal circulation anomaly, second most common form of CHD which constitutes approximately 10 per cent of total CHDs. The study aimed to screen for TFAP2B<\/jats:italic> mutations in CHD patients of Mysore.<\/jats:p>\n <\/jats:sec>\n \n Methods:<\/jats:title>\n With informed consent, 100 clinically diagnosed CHD patients and 50 healthy controls in Mysore, south India, were recruited for the analysis of screening of mutations. MassARRAY analysis of 5 prominent mutations of TFAP2B<\/jats:italic> was performed.<\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n The analysis did not show any of the five mutations of TFAP2B<\/jats:italic> screened by massARRAY in patients and controls, indicating that these mutations were not involved in the manifestation of CHD in the patients at Mysore, south India.<\/jats:p>\n <\/jats:sec>\n \n Interpretation & Conclusions:<\/jats:title>\n The findings suggest the lack of involvement of known mutations of TFAP2B<\/jats:italic> with syndromic or nonsyndromic CHDs in Mysore patients.<\/jats:p>\n <\/jats:sec>","DOI":"10.4103\/0971-5916.90986","type":"journal-article","created":{"date-parts":[[2011,12,20]],"date-time":"2011-12-20T06:42:36Z","timestamp":1324363356000},"page":"621-626","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":10,"title":["Mutations of TFAP2B in congenital heart disease patients in Mysore, South India"],"prefix":"10.25259","volume":"134","author":[{"given":"Kusuma","family":"Lingaiah","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dinesh M.","family":"Sosalagere","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Savitha R.","family":"Mysore","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Krishnamurthy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Doddaiah","family":"Narayanappa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ramachandra B.","family":"Nallur","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10894","reference":[{"key":"R1-8-20241212","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.carpath.2007.06.005","article-title":"Genetic insights into normal and abnormal heart development","volume":"17","author":"Nemer","year":"2008","journal-title":"Cardiovasc Pathol"},{"key":"R2-8-20241212","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1038\/nature06801","article-title":"The developmental genetics of congenital heart disease","volume":"451","author":"Bruneau","year":"2008","journal-title":"Nature"},{"key":"R3-8-20241212","doi-asserted-by":"crossref","first-page":"15054","DOI":"10.1073\/pnas.192582999","article-title":"Finding genetic contributions to sporadic disease: a recessive locus at 12q24 commonly contributes to patent ductus arteriosus","volume":"99","author":"Mani","year":"2002","journal-title":"Proc Natl Acad Sci USA"},{"key":"R4-8-20241212","doi-asserted-by":"crossref","first-page":"2975","DOI":"10.1073\/pnas.0409852102","article-title":"Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder","volume":"102","author":"Mani","year":"2005","journal-title":"Proc Natl Acad Sci USA"},{"key":"R5-8-20241212","doi-asserted-by":"crossref","first-page":"246.1","DOI":"10.1186\/gb-2005-6-13-246","article-title":"The AP-2 family of transcription factors 2005; 6 : 246","volume":"6","author":"Eckert","year":"2005","journal-title":"Genome Biol"},{"key":"R6-8-20241212","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.semcdb.2006.12.004","article-title":"Model systems for the study of heart development and disease. Cardiac neural crest and conotruncal malformations","volume":"18","author":"Hutson","year":"2007","journal-title":"Semin Cell Dev Biol"},{"key":"R7-8-20241212","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1002\/jcb.21686","article-title":"Characterization of TBX20 in human hearts and its regulation by TFAP2","volume":"104","author":"Hammer","year":"2008","journal-title":"J Cell Biochem"},{"key":"R8-8-20241212","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1038\/75578","article-title":"Mutations in TFAP2B cause char syndrome a familial form of patent ductus arteriosus","volume":"25","author":"Satoda","year":"2000","journal-title":"Nat Genet"},{"key":"R9-8-20241212","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1086\/323410","article-title":"Novel TFAP2B mutations that cause Char syndrome provide a genotype- phenotype correlation","volume":"69","author":"Zhao","year":"2001","journal-title":"Am J Hum Genet"},{"key":"R10-8-20241212","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1146\/annurev.physiol.68.040104.113828","article-title":"Transcription factors and congenital heart defects","volume":"68","author":"Clark","year":"2006","journal-title":"Annu Rev Physiol"},{"key":"R11-8-20241212","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1089\/gte.2008.0015","article-title":"Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus","volume":"12","author":"Khetyar","year":"2008","journal-title":"Genet Test"},{"key":"R12-8-20241212","first-page":"1789","article-title":"Genetic variation in CYP27B1 is associated with congestive heart failure in patient with hypertension","volume":"10","author":"Wilke","year":"2009","journal-title":"Pharmacology"},{"key":"R13-8-20241212","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1373\/clinchem.2007.092627","article-title":"High-throughput genotyping of oncogenic human papilloma viruses with MALDI-TOF mass spectrometry","volume":"54","author":"Soderlund-Strand","year":"2008","journal-title":"Clin Chem"},{"key":"R14-8-20241212","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1111\/j.1365-2265.2007.03171.x","article-title":"Polymorphisms of the Ghrelin\/Obestatin gene and ghrelin levels in Chinese children with short stature","volume":"69","author":"Zou","year":"2008","journal-title":"Clin Endocrinol (Oxf"},{"key":"R16-8-20241212","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1002\/(SICI)1096-8628(19991119)87:2<175::AID-AJMG9>3.0.CO;2-#","article-title":"Familial patent ductus arteriosus and bicuspid aortic valve with hand anomalies: a novel heart-hand syndrome","volume":"87","author":"Gelb","year":"1999","journal-title":"Am J Med Genet"},{"key":"R17-8-20241212","first-page":"231","article-title":"The molecular basis of congenital heart disease","volume":"7","author":"Mitchell","year":"2007","journal-title":"Semin Thorac Cardiovasc Surg"}],"container-title":["Indian Journal of Medical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/02223309-201134050-00008","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T23:07:36Z","timestamp":1751497656000},"score":1,"resource":{"primary":{"URL":"https:\/\/ijmr.org.in\/mutations-of-tfap2b-in-congenital-heart-disease-patients-in-mysore-south-india\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,11]]},"references-count":16,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2011]]}},"URL":"https:\/\/doi.org\/10.4103\/0971-5916.90986","relation":{},"ISSN":["0971-5916"],"issn-type":[{"type":"print","value":"0971-5916"}],"subject":[],"published":{"date-parts":[[2011,11]]}}}