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Items: 1 to 20 of 87

1.

Atrial Fibrillation and Other Clinical Manifestations of Altered TBX5 Dosage in Typical Holt-Oram Syndrome.

McDermott DA, Hatcher CJ, Basson CT.

Circ Res. 2008 Sep 26;103(7):e96. doi: 10.1161/CIRCRESAHA.108.181834. No abstract available.

2.

A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation.

Postma AV, van de Meerakker JB, Mathijssen IB, Barnett P, Christoffels VM, Ilgun A, Lam J, Wilde AA, Lekanne Deprez RH, Moorman AF.

Circ Res. 2008 Jun 6;102(11):1433-42. doi: 10.1161/CIRCRESAHA.107.168294. Epub 2008 May 1.

3.

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
4.

TBX5 loss-of-function mutation contributes to atrial fibrillation and atypical Holt-Oram syndrome.

Guo DF, Li RG, Yuan F, Shi HY, Hou XM, Qu XK, Xu YJ, Zhang M, Liu X, Jiang JQ, Yang YQ, Qiu XB.

Mol Med Rep. 2016 May;13(5):4349-56. doi: 10.3892/mmr.2016.5043. Epub 2016 Mar 24.

PMID:
27035640
5.

Holt-oram syndrome and atrial fibrillation: opening the (T)-box.

Cerbai E, Sartiani L.

Circ Res. 2008 Jun 6;102(11):1304-6. doi: 10.1161/CIRCRESAHA.108.178079. No abstract available.

6.

Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus.

Vaughan CJ, Basson CT.

Am J Med Genet. 2000 Winter;97(4):304-9. Review.

PMID:
11376442
7.

Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome.

Ghosh TK, Packham EA, Bonser AJ, Robinson TE, Cross SJ, Brook JD.

Hum Mol Genet. 2001 Sep 1;10(18):1983-94.

PMID:
11555635
8.

Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation.

Hiroi Y, Kudoh S, Monzen K, Ikeda Y, Yazaki Y, Nagai R, Komuro I.

Nat Genet. 2001 Jul;28(3):276-80.

PMID:
11431700
9.

Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.

Boogerd CJ, Dooijes D, Ilgun A, Mathijssen IB, Hordijk R, van de Laar IM, Rump P, Veenstra-Knol HE, Moorman AF, Barnett P, Postma AV.

Cardiovasc Res. 2010 Oct 1;88(1):130-9. doi: 10.1093/cvr/cvq178. Epub 2010 Jun 2. Erratum in: Cardiovasc Res. 2011 Jan 1;89(1):253. Mathijssen, Inge B [added].

PMID:
20519243
10.

A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease.

Bruneau BG, Nemer G, Schmitt JP, Charron F, Robitaille L, Caron S, Conner DA, Gessler M, Nemer M, Seidman CE, Seidman JG.

Cell. 2001 Sep 21;106(6):709-21.

11.

Novel TBX5 mutations in patients with Holt-Oram syndrome.

Debeer P, Race V, Gewillig M, Devriendt K, Frijns JP.

Clin Orthop Relat Res. 2007 Sep;462:20-6.

PMID:
17534187
12.

Novel TBX5 mutations and molecular mechanism for Holt-Oram syndrome.

Fan C, Duhagon MA, Oberti C, Chen S, Hiroi Y, Komuro I, Duhagon PI, Canessa R, Wang Q.

J Med Genet. 2003 Mar;40(3):e29. No abstract available.

13.

Ventricular expression of tbx5 inhibits normal heart chamber development.

Liberatore CM, Searcy-Schrick RD, Yutzey KE.

Dev Biol. 2000 Jul 1;223(1):169-80.

14.

TBX5 mutations contribute to early-onset atrial fibrillation in Chinese and Caucasians.

Ma JF, Yang F, Mahida SN, Zhao L, Chen X, Zhang ML, Sun Z, Yao Y, Zhang YX, Zheng GY, Dong J, Feng MJ, Zhang R, Sun J, Li S, Wang QS, Cao H, Benjamin EJ, Ellinor PT, Li YG, Tian XL.

Cardiovasc Res. 2016 Mar 1;109(3):442-50. doi: 10.1093/cvr/cvw003. Epub 2016 Jan 13.

15.

TBX5, a gene mutated in Holt-Oram syndrome, is regulated through a GC box and T-box binding elements (TBEs).

Sun G, Lewis LE, Huang X, Nguyen Q, Price C, Huang T.

J Cell Biochem. 2004 May 1;92(1):189-99. Erratum in: J Cell Biochem. 2004 Jul 1;92(4):864.

PMID:
15095414
16.

TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype.

Patel C, Silcock L, McMullan D, Brueton L, Cox H.

Eur J Hum Genet. 2012 Aug;20(8):863-9. doi: 10.1038/ejhg.2012.16. Epub 2012 Feb 15.

17.

[Holt-Oram syndrome: family affected without TBX5 mutation and without phenotype manifestations in a probable mutation carrier].

Murga-Eizagaechevarria N, Garcia-Barcina M, Sarasola Diez E.

Rev Esp Cardiol. 2011 Dec;64(12):1225-6. doi: 10.1016/j.recesp.2011.02.016. Epub 2011 Jul 12. Spanish. No abstract available.

18.

Prevalence and Spectrum of TBX5 Mutation in Patients with Lone Atrial Fibrillation.

Wang ZC, Ji WH, Ruan CW, Liu XY, Qiu XB, Yuan F, Li RG, Xu YJ, Liu X, Huang RT, Xue S, Yang YQ.

Int J Med Sci. 2016 Jan 23;13(1):60-7. doi: 10.7150/ijms.13264. eCollection 2016.

19.

Structural basis of TBX5-DNA recognition: the T-box domain in its DNA-bound and -unbound form.

Stirnimann CU, Ptchelkine D, Grimm C, Müller CW.

J Mol Biol. 2010 Jul 2;400(1):71-81. doi: 10.1016/j.jmb.2010.04.052. Epub 2010 May 5.

PMID:
20450920
20.

Crystallization and preliminary X-ray analysis of the cardiac transcription factor complex of NKX2.5 and TBX5 with DNA.

Pradhan L, Gopal S, Nam HJ.

Acta Crystallogr F Struct Biol Commun. 2014 May;70(Pt 5):592-5. doi: 10.1107/S2053230X14006761. Epub 2014 Apr 15.

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