Single-Nucleotide Polymorphisms in Exonic and Promoter Regions of Transcription Factors of Second Heart Field Associated with Sporadic Congenital Cardiac Anomalies
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Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol. 2002; 39(12): 1890–900.HoffmanJIKaplanSThe incidence of congenital heart diseaseJ Am Coll Cardiol20023912189090010.1016/S0735-1097(02)01886-7Search in Google Scholar
Winkleby M, Sundquist K, Cubbin C. Inequities in CHD incidence and case fatality by neighborhood deprivation. Am J Prev Med. 2007; 32(2): 97–106.WinklebyMSundquistKCubbinCInequities in CHD incidence and case fatality by neighborhood deprivationAm J Prev Med20073229710610.1016/j.amepre.2006.10.002222553117234484Search in Google Scholar
Srivastava D. Making or breaking the heart: from lineage determination to morphogenesis. Cell. 2006; 126(6): 1037–48.SrivastavaDMaking or breaking the heart: from lineage determination to morphogenesisCell2006126610374810.1016/j.cell.2006.09.00316990131Search in Google Scholar
Rasmussen TL, Ma Y, Park CY, Harriss J, Pierce SA, Dekker JD, et al. Smyd1 facilitates heart development by antagonizing oxidative and ER stress responses. PLoS One. 2015; 10(3): e0121765.RasmussenTLMaYParkCYHarrissJPierceSADekkerJDSmyd1 facilitates heart development by antagonizing oxidative and ER stress responsesPLoS One2015103e012176510.1371/journal.pone.0121765437259825803368Search in Google Scholar
Srivastava D, Olson EN. A genetic blueprint for cardiac development. Nature. 2000; 407(6081):221–6.SrivastavaDOlsonENA genetic blueprint for cardiac developmentNature20004076081221610.1038/3502519011001064Search in Google Scholar
Tsuchihashi T, Maeda J, Shin CH, Ivey KN, Black BL, Olson EN, et al. Hand2 function in second heart field progenitors is essential for cardiogenesis. Developmental Biology. 2011; 351(1): 62–9.TsuchihashiTMaedaJShinCHIveyKNBlackBLOlsonENHand2 function in second heart field progenitors is essential for cardiogenesisDevelopmental Biology2011351162910.1016/j.ydbio.2010.12.023303910921185281Search in Google Scholar
Phan D, Rasmussen TL, Nakagawa O, McAnally J, Gottlieb PD, Tucker PW, et al. BOP, a regulator of right ventricular heart development, is a direct transcriptional target of MEF2C in the developing heart. Development. 2005; 132(11): 2669–78.PhanDRasmussenTLNakagawaOMcAnallyJGottliebPDTuckerPWBOP, a regulator of right ventricular heart development, is a direct transcriptional target of MEF2C in the developing heartDevelopment20051321126697810.1242/dev.0184915890826Search in Google Scholar
Vong L, Bi W, O’Connor-Halligan KE, Li C, Cserjesi P, Schwarz JJ. MEF2C is required for the normal allocation of cells between the ventricular and sinoatrial precursors of the primary heart field. Developmental Dynamics. 2006; 235(7):1809–21.VongLBiWO’Connor-HalliganKELiCCserjesiPSchwarzJJMEF2C is required for the normal allocation of cells between the ventricular and sinoatrial precursors of the primary heart fieldDevelopmental Dynamics2006235718092110.1002/dvdy.2082816680724Search in Google Scholar
Takeuchi JK, Mileikovskaia M, Koshiba-Takeuchi K, Heidt AB, Mori AD, Arruda EP, et al. Tb×20 dose-dependently regulates transcription factor networks required for mouse heart and motoneuron development. Development. 2005; 132(10): 2463–74.TakeuchiJKMileikovskaiaMKoshiba-TakeuchiKHeidtABMoriADArrudaEPTb×20 dose-dependently regulates transcription factor networks required for mouse heart and motoneuron developmentDevelopment20051321024637410.1242/dev.0182715843409Search in Google Scholar
Huang RT, Wang J, Xue S, Qiu XB, Shi HY, Li RG, et al. TBX20 loss-of-function mutation responsible for familial tetralogy of Fallot or sporadic persistent truncus arteriosus. Int J Med Sci. 2017; 14(4): 323–32.HuangRTWangJXueSQiuXBShiHYLiRGTBX20 loss-of-function mutation responsible for familial tetralogy of Fallot or sporadic persistent truncus arteriosusInt J Med Sci20171443233210.7150/ijms.17834543647428553164Search in Google Scholar
Lu CX, Wang W, Wang Q, Liu XY, Yang YQ. A Novel MEF2C Loss-of-Function Mutation Associated with Congenital Double Outlet Right Ventricle. Pediatr Cardiol. 2018; 39(4): 794–804.LuCXWangWWangQLiuXYYangYQA Novel MEF2C Loss-of-Function Mutation Associated with Congenital Double Outlet Right VentriclePediatr Cardiol201839479480410.1007/s00246-018-1822-y29468350Search in Google Scholar
Fan LL, Ding DB, Huang H, Chen YQ, Jin JY, Xia K, et al. A de novo mutation of SMYD1 (p.F272L) is responsible for hypertrophic cardiomyopathy in a Chinese patient. Clin Chem Lab Med. 2019; 57(4): 532–9.FanLLDingDBHuangHChenYQJinJYXiaKA de novo mutation of SMYD1 (p.F272L) is responsible for hypertrophic cardiomyopathy in a Chinese patientClin Chem Lab Med2019574532910.1515/cclm-2018-057830205637Search in Google Scholar
Kassab K, Hariri H, Gharibeh L, Fahed AC, Zein M, El-Rassy I, et al. GATA5 mutation homozygosity linked to a double outlet right ventricle phenotype in a Lebanese patient. Mol Genet Genomic Med. 2016; 4(2): 160–71.KassabKHaririHGharibehLFahedACZeinMEl-RassyIGATA5 mutation homozygosity linked to a double outlet right ventricle phenotype in a Lebanese patientMol Genet Genomic Med2016421607110.1002/mgg3.190479987727066509Search in Google Scholar
Wang E, Nie Y, Fan X, Zheng Z, Hu S. Intronic Polymorphisms in Gene of Second Heart Field as Risk Factors for Human Congenital Heart Disease in a Chinese Population. DNA Cell Biol. 2019; 38(6): 521–31.WangENieYFanXZhengZHuSIntronic Polymorphisms in Gene of Second Heart Field as Risk Factors for Human Congenital Heart Disease in a Chinese PopulationDNA Cell Biol20193865213110.1089/dna.2018.425431013439Search in Google Scholar
Wang E, Wang Z, Liu S, Gu H, Gong D, Hua K, et al. Polymorphisms of VEGF, TGFbeta1, TGFbetaR2 and conotruncal heart defects in a Chinese population. Mol Biol Rep. 2014; 41(3): 1763–70.WangEWangZLiuSGuHGongDHuaKPolymorphisms of VEGF, TGFbeta1, TGFbetaR2 and conotruncal heart defects in a Chinese populationMol Biol Rep201441317637010.1007/s11033-014-3025-924443223Search in Google Scholar
Topf A, Griffin HR, Glen E, Soemedi R, Brown DL, Hall D, et al. Functionally significant, rare transcription factor variants in tetralogy of Fallot. PLoS One. 2014; 9(8): e95453.TopfAGriffinHRGlenESoemediRBrownDLHallDFunctionally significant, rare transcription factor variants in tetralogy of FallotPLoS One201498e9545310.1371/journal.pone.0095453412234325093829Search in Google Scholar
Hempel M, Casar Tena T, Diehl T, Burczyk MS, Strom TM, Kubisch C, et al. Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies. Hum Genet. 2017; 136(3): 339–46.HempelMCasar TenaTDiehlTBurczykMSStromTMKubischCCompound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomaliesHum Genet201713633394610.1007/s00439-017-1762-228180938Search in Google Scholar
Edmondson DG, Lyons GE, Martin JF, Olson EN. Mef2 gene expression marks the cardiac and skeletal muscle lineages during mouse embryogenesis. Development. 1994; 120(5): 1251–63.EdmondsonDGLyonsGEMartinJFOlsonENMef2 gene expression marks the cardiac and skeletal muscle lineages during mouse embryogenesisDevelopment1994120512516310.1242/dev.120.5.12518026334Search in Google Scholar
Dodou E, Verzi MP, Anderson JP, Xu SM, Black BL. Mef2c is a direct transcriptional target of ISL1 and GATA factors in the anterior heart field during mouse embryonic development. Development. 2004; 131(16): 3931–42.DodouEVerziMPAndersonJPXuSMBlackBLMef2c is a direct transcriptional target of ISL1 and GATA factors in the anterior heart field during mouse embryonic developmentDevelopment20041311639314210.1242/dev.0125615253934Search in Google Scholar
Gottlieb PD, Pierce SA, Sims RJ, Yamagishi H, Weihe EK, Harriss JV, et al. Bop encodes a muscle-restricted protein containing MYND and SET domains and is essential for cardiac differentiation and morphogenesis. Nat Genet. 2002; 31: 25–32.GottliebPDPierceSASimsRJYamagishiHWeiheEKHarrissJVBop encodes a muscle-restricted protein containing MYND and SET domains and is essential for cardiac differentiation and morphogenesisNat Genet200231253210.1038/ng86611923873Search in Google Scholar
Tracy C, Warren JS, Szulik M, Wang L, Garcia J, Makaju A, et al. The Smyd Family of Methyltransferases: Role in Cardiac and Skeletal Muscle Physiology and Pathology. Curr Opin Physiol. 2018; 1: 140–52.TracyCWarrenJSSzulikMWangLGarciaJMakajuAThe Smyd Family of Methyltransferases: Role in Cardiac and Skeletal Muscle Physiology and PathologyCurr Opin Physiol201811405210.1016/j.cophys.2017.10.001Search in Google Scholar
Laforest B, Nemer M. GATA5 interacts with GATA4 and GATA6 in outflow tract development. Dev Biol. 2011; 358(2): 368–78.LaforestBNemerMGATA5 interacts with GATA4 and GATA6 in outflow tract developmentDev Biol201135823687810.1016/j.ydbio.2011.07.037Search in Google Scholar
Shi LM, Tao JW, Qiu XB, Wang J, Yuan F, Xu L, et al. GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve. Int J Mol Med. 2014; 33(5): 1219–26.ShiLMTaoJWQiuXBWangJYuanFXuLGATA5 loss-of-function mutations associated with congenital bicuspid aortic valveInt J Mol Med201433512192610.3892/ijmm.2014.1700Search in Google Scholar
Wei D, Bao H, Zhou N, Zheng GF, Liu XY, Yang YQ. GATA5 loss-of-function mutation responsible for the congenital ventriculoseptal defect. Pediatr Cardiol. 2013; 34(3): 504–11.WeiDBaoHZhouNZhengGFLiuXYYangYQGATA5 loss-of-function mutation responsible for the congenital ventriculoseptal defectPediatr Cardiol20133435041110.1007/s00246-012-0482-6Search in Google Scholar
Huang RT, Xue S, Xu YJ, Zhou M, Yang YQ. Somatic GATA5 mutations in sporadic tetralogy of Fallot. Int J Mol Med. 2014; 33(5):1227–35.HuangRTXueSXuYJZhouMYangYQSomatic GATA5 mutations in sporadic tetralogy of FallotInt J Mol Med201433512273510.3892/ijmm.2014.1674Search in Google Scholar
Cai CL, Liang X, Shi Y, Chu PH, Pfaff SL, Chen J, et al. Isl1 identifies a cardiac progenitor population that proliferates prior to differentiation and contributes a majority of cells to the heart. Dev Cell. 2003; 5(6): 877–89.CaiCLLiangXShiYChuPHPfaffSLChenJIsl1 identifies a cardiac progenitor population that proliferates prior to differentiation and contributes a majority of cells to the heartDev Cell2003568778910.1016/S1534-5807(03)00363-0Search in Google Scholar
Cai CL, Zhou W, Yang L, Bu L, Qyang Y, Zhang X, et al. T-box genes coordinate regional rates of proliferation and regional specification during cardiogenesis. Development. 2005; 132(10): 2475–87.CaiCLZhouWYangLBuLQyangYZhangXT-box genes coordinate regional rates of proliferation and regional specification during cardiogenesisDevelopment20051321024758710.1242/dev.01832557643915843407Search in Google Scholar
Posch MG, Gramlich M, Sunde M, Schmitt KR, Lee SH, Richter S, et al. A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects. J Med Genet. 2010; 47(4): 230–5.PoschMGGramlichMSundeMSchmittKRLeeSHRichterSA gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defectsJ Med Genet2010474230510.1136/jmg.2009.069997298102319762328Search in Google Scholar
Pan Y, Geng R, Zhou N, Zheng GF, Zhao H, Wang J, et al. TBX20 loss-of-function mutation contributes to double outlet right ventricle. Int J Mol Med. 2015; 35(4): 1058–66.PanYGengRZhouNZhengGFZhaoHWangJTBX20 loss-of-function mutation contributes to double outlet right ventricleInt J Mol Med201535410586610.3892/ijmm.2015.207725625280Search in Google Scholar
Monroy-Munoz IE, Perez-Hernandez N, Rodriguez-Perez JM, Munoz-Medina JE, Angeles-Martinez J, Garcia-Trejo JJ, et al. Novel mutations in the transcriptional activator domain of the human TBX20 in patients with atrial septal defect. Biomed Res Int. 2015; 2015: 718786.Monroy-MunozIEPerez-HernandezNRodriguez-PerezJMMunoz-MedinaJEAngeles-MartinezJGarcia-TrejoJJNovel mutations in the transcriptional activator domain of the human TBX20 in patients with atrial septal defectBiomed Res Int2015201571878610.1155/2015/718786436536725834824Search in Google Scholar