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Items: 1 to 20 of 163

1.

Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy.

Kirk EP, Sunde M, Costa MW, Rankin SA, Wolstein O, Castro ML, Butler TL, Hyun C, Guo G, Otway R, Mackay JP, Waddell LB, Cole AD, Hayward C, Keogh A, Macdonald P, Griffiths L, Fatkin D, Sholler GF, Zorn AM, Feneley MP, Winlaw DS, Harvey RP.

Am J Hum Genet. 2007 Aug;81(2):280-91. Epub 2007 Jun 15.

2.

A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects.

Posch MG, Gramlich M, Sunde M, Schmitt KR, Lee SH, Richter S, Kersten A, Perrot A, Panek AN, Al Khatib IH, Nemer G, Mégarbané A, Dietz R, Stiller B, Berger F, Harvey RP, Ozcelik C.

J Med Genet. 2010 Apr;47(4):230-5. doi: 10.1136/jmg.2009.069997. Epub 2009 Sep 16.

3.
4.

Murine T-box transcription factor Tbx20 acts as a repressor during heart development, and is essential for adult heart integrity, function and adaptation.

Stennard FA, Costa MW, Lai D, Biben C, Furtado MB, Solloway MJ, McCulley DJ, Leimena C, Preis JI, Dunwoodie SL, Elliott DE, Prall OW, Black BL, Fatkin D, Harvey RP.

Development. 2005 May;132(10):2451-62. Epub 2005 Apr 20.

5.

T-box transcription factor TBX20 mutations in Chinese patients with congenital heart disease.

Liu C, Shen A, Li X, Jiao W, Zhang X, Li Z.

Eur J Med Genet. 2008 Nov-Dec;51(6):580-7. doi: 10.1016/j.ejmg.2008.09.001. Epub 2008 Sep 12.

PMID:
18834961
6.

Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.

Jhang WK, Lee BH, Kim GH, Lee JO, Yoo HW.

Cardiol Young. 2015 Aug;25(6):1093-8. doi: 10.1017/S1047951114001656. Epub 2014 Sep 12.

PMID:
25216260
7.

Differential expression and function of Tbx5 and Tbx20 in cardiac development.

Plageman TF Jr, Yutzey KE.

J Biol Chem. 2004 Apr 30;279(18):19026-34. Epub 2004 Feb 20.

8.

GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5.

Garg V, Kathiriya IS, Barnes R, Schluterman MK, King IN, Butler CA, Rothrock CR, Eapen RS, Hirayama-Yamada K, Joo K, Matsuoka R, Cohen JC, Srivastava D.

Nature. 2003 Jul 24;424(6947):443-7. Epub 2003 Jul 6.

PMID:
12845333
9.

Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy.

Costa MW, Guo G, Wolstein O, Vale M, Castro ML, Wang L, Otway R, Riek P, Cochrane N, Furtado M, Semsarian C, Weintraub RG, Yeoh T, Hayward C, Keogh A, Macdonald P, Feneley M, Graham RM, Seidman JG, Seidman CE, Rosenthal N, Fatkin D, Harvey RP.

Circ Cardiovasc Genet. 2013 Jun;6(3):238-47. doi: 10.1161/CIRCGENETICS.113.000057. Epub 2013 May 9.

10.

Cardiac T-box factor Tbx20 directly interacts with Nkx2-5, GATA4, and GATA5 in regulation of gene expression in the developing heart.

Stennard FA, Costa MW, Elliott DA, Rankin S, Haast SJ, Lai D, McDonald LP, Niederreither K, Dolle P, Bruneau BG, Zorn AM, Harvey RP.

Dev Biol. 2003 Oct 15;262(2):206-24.

11.

TBX20 loss-of-function mutation contributes to double outlet right ventricle.

Pan Y, Geng R, Zhou N, Zheng GF, Zhao H, Wang J, Zhao CM, Qiu XB, Yang YQ, Liu XY.

Int J Mol Med. 2015 Apr;35(4):1058-66. doi: 10.3892/ijmm.2015.2077. Epub 2015 Jan 22.

PMID:
25625280
12.

Genetic analysis of the TBX20 gene promoter region in patients with ventricular septal defects.

Qiao Y, Wanyan H, Xing Q, Xie W, Pang S, Shan J, Yan B.

Gene. 2012 May 25;500(1):28-31. doi: 10.1016/j.gene.2012.03.055. Epub 2012 Mar 21.

PMID:
22465533
13.

Association of TBX20 gene polymorphism with congenital heart disease in Han Chinese neonates.

Chen J, Sun F, Fu J, Zhang H.

Pediatr Cardiol. 2015 Apr;36(4):737-42. doi: 10.1007/s00246-014-1073-5. Epub 2014 Dec 9.

PMID:
25487630
14.

Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects.

Salazar M, Consoli F, Villegas V, Caicedo V, Maddaloni V, Daniele P, Caianiello G, Pachón S, Nuñez F, Limongelli G, Pacileo G, Marino B, Bernal JE, De Luca A, Dallapiccola B.

Eur J Med Genet. 2011 May-Jun;54(3):306-9. doi: 10.1016/j.ejmg.2011.01.004. Epub 2011 Jan 27.

PMID:
21276881
15.

Novel mutations in the transcriptional activator domain of the human TBX20 in patients with atrial septal defect.

Monroy-Muñoz IE, Pérez-Hernández N, Rodríguez-Pérez JM, Muñoz-Medina JE, Angeles-Martínez J, García-Trejo JJ, Morales-Ríos E, Massó F, Sandoval-Jones JP, Cervantes-Salazar J, García-Montes JA, Calderón-Colmenero J, Vargas-Alarcón G.

Biomed Res Int. 2015;2015:718786. doi: 10.1155/2015/718786. Epub 2015 Mar 5.

16.

Tbx20 dose-dependently regulates transcription factor networks required for mouse heart and motoneuron development.

Takeuchi JK, Mileikovskaia M, Koshiba-Takeuchi K, Heidt AB, Mori AD, Arruda EP, Gertsenstein M, Georges R, Davidson L, Mo R, Hui CC, Henkelman RM, Nemer M, Black BL, Nagy A, Bruneau BG.

Development. 2005 May;132(10):2463-74. Epub 2005 Apr 20.

17.

GATA4 mutations in 357 unrelated patients with congenital heart malformation.

Butler TL, Esposito G, Blue GM, Cole AD, Costa MW, Waddell LB, Walizada G, Sholler GF, Kirk EP, Feneley M, Harvey RP, Winlaw DS.

Genet Test Mol Biomarkers. 2010 Dec;14(6):797-802. doi: 10.1089/gtmb.2010.0028. Epub 2010 Sep 27.

PMID:
20874241
18.

Tbx20 regulates a genetic program essential to adult mouse cardiomyocyte function.

Shen T, Aneas I, Sakabe N, Dirschinger RJ, Wang G, Smemo S, Westlund JM, Cheng H, Dalton N, Gu Y, Boogerd CJ, Cai CL, Peterson K, Chen J, Nobrega MA, Evans SM.

J Clin Invest. 2011 Dec;121(12):4640-54. doi: 10.1172/JCI59472. Epub 2011 Nov 14.

19.

Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations.

Granados-Riveron JT, Pope M, Bu'lock FA, Thornborough C, Eason J, Setchfield K, Ketley A, Kirk EP, Fatkin D, Feneley MP, Harvey RP, Brook JD.

Congenit Heart Dis. 2012 Mar-Apr;7(2):151-9. doi: 10.1111/j.1747-0803.2011.00573.x. Epub 2011 Oct 20.

20.

TBX5 loss-of-function mutation contributes to familial dilated cardiomyopathy.

Zhang XL, Qiu XB, Yuan F, Wang J, Zhao CM, Li RG, Xu L, Xu YJ, Shi HY, Hou XM, Qu XK, Xu YW, Yang YQ.

Biochem Biophys Res Commun. 2015 Mar 27;459(1):166-71. doi: 10.1016/j.bbrc.2015.02.094. Epub 2015 Feb 26.

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