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Items: 1 to 20 of 173

1.

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.

2.

Genetic analysis of essential cardiac transcription factors in 256 patients with non-syndromic congenital heart defects.

Kodo K, Nishizawa T, Furutani M, Arai S, Ishihara K, Oda M, Makino S, Fukuda K, Takahashi T, Matsuoka R, Nakanishi T, Yamagishi H.

Circ J. 2012;76(7):1703-11. Epub 2012 Apr 13.

3.

Zac1 is an essential transcription factor for cardiac morphogenesis.

Yuasa S, Onizuka T, Shimoji K, Ohno Y, Kageyama T, Yoon SH, Egashira T, Seki T, Hashimoto H, Nishiyama T, Kaneda R, Murata M, Hattori F, Makino S, Sano M, Ogawa S, Prall OW, Harvey RP, Fukuda K.

Circ Res. 2010 Apr 2;106(6):1083-91. doi: 10.1161/CIRCRESAHA.109.214130. Epub 2010 Feb 18.

4.

A tyrosine-rich domain within homeodomain transcription factor Nkx2-5 is an essential element in the early cardiac transcriptional regulatory machinery.

Elliott DA, Solloway MJ, Wise N, Biben C, Costa MW, Furtado MB, Lange M, Dunwoodie S, Harvey RP.

Development. 2006 Apr;133(7):1311-22. Epub 2006 Mar 1.

5.

Transcriptional defect of an inherited NKX2-5 haplotype comprising a SNP, a nonsynonymous and a synonymous mutation, associated with human congenital heart disease.

Reamon-Buettner SM, Sattlegger E, Ciribilli Y, Inga A, Wessel A, Borlak J.

PLoS One. 2013 Dec 20;8(12):e83295. doi: 10.1371/journal.pone.0083295. eCollection 2013.

7.

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.

8.

The ambiguous role of NKX2-5 mutations in thyroid dysgenesis.

van Engelen K, Mommersteeg MT, Baars MJ, Lam J, Ilgun A, van Trotsenburg AS, Smets AM, Christoffels VM, Mulder BJ, Postma AV.

PLoS One. 2012;7(12):e52685. doi: 10.1371/journal.pone.0052685. Epub 2012 Dec 28.

9.

Analyses of GATA4, NKX2.5, and TFAP2B genes in subjects from southern China with sporadic congenital heart disease.

Xiong F, Li Q, Zhang C, Chen Y, Li P, Wei X, Li Q, Zhou W, Li L, Shang X, Xu X.

Cardiovasc Pathol. 2013 Mar-Apr;22(2):141-5. doi: 10.1016/j.carpath.2012.07.001. Epub 2012 Sep 6.

PMID:
22959235
10.

NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD).

Reamon-Buettner SM, Borlak J.

Hum Mutat. 2010 Nov;31(11):1185-94. doi: 10.1002/humu.21345. Epub 2010 Oct 12. Review.

PMID:
20725931
11.

Nuclear Receptor-Like Structure and Interaction of Congenital Heart Disease-Associated Factors GATA4 and NKX2-5.

Kinnunen S, Välimäki M, Tölli M, Wohlfahrt G, Darwich R, Komati H, Nemer M, Ruskoaho H.

PLoS One. 2015 Dec 7;10(12):e0144145. doi: 10.1371/journal.pone.0144145. eCollection 2015.

12.

Expression of sumoylation deficient Nkx2.5 mutant in Nkx2.5 haploinsufficient mice leads to congenital heart defects.

Kim EY, Chen L, Ma Y, Yu W, Chang J, Moskowitz IP, Wang J.

PLoS One. 2011;6(6):e20803. doi: 10.1371/journal.pone.0020803. Epub 2011 Jun 3.

13.

A mouse model of human congenital heart disease: high incidence of diverse cardiac anomalies and ventricular noncompaction produced by heterozygous Nkx2-5 homeodomain missense mutation.

Ashraf H, Pradhan L, Chang EI, Terada R, Ryan NJ, Briggs LE, Chowdhury R, Zárate MA, Sugi Y, Nam HJ, Benson DW, Anderson RH, Kasahara H.

Circ Cardiovasc Genet. 2014 Aug;7(4):423-33. doi: 10.1161/CIRCGENETICS.113.000281. Epub 2014 Jul 15.

14.

Nkx2-5 pathways and congenital heart disease; loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block.

Pashmforoush M, Lu JT, Chen H, Amand TS, Kondo R, Pradervand S, Evans SM, Clark B, Feramisco JR, Giles W, Ho SY, Benson DW, Silberbach M, Shou W, Chien KR.

Cell. 2004 Apr 30;117(3):373-86.

15.

Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.

Elliott DA, Kirk EP, Yeoh T, Chandar S, McKenzie F, Taylor P, Grossfeld P, Fatkin D, Jones O, Hayes P, Feneley M, Harvey RP.

J Am Coll Cardiol. 2003 Jun 4;41(11):2072-6.

16.

Congenital heart disease caused by mutations in the transcription factor NKX2-5.

Schott JJ, Benson DW, Basson CT, Pease W, Silberbach GM, Moak JP, Maron BJ, Seidman CE, Seidman JG.

Science. 1998 Jul 3;281(5373):108-11.

17.

R25C mutation in the NKX2.5 gene in Italian patients affected with non-syndromic and syndromic congenital heart disease.

Beffagna G, Cecchetto A, Dal Bianco L, Lorenzon A, Angelini A, Padalino M, Vida V, Bhattacharya S, Stellin G, Rampazzo A, Daliento L.

J Cardiovasc Med (Hagerstown). 2013 Aug;14(8):582-6. doi: 10.2459/JCM.0b013e328356a326.

PMID:
22964646
18.

Cardiac transcription factor Nkx2.5 interacts with p53 and modulates its activity.

Kojic S, Nestorovic A, Rakicevic L, Protic O, Jasnic-Savovic J, Faulkner G, Radojkovic D.

Arch Biochem Biophys. 2015 Mar 1;569:45-53. doi: 10.1016/j.abb.2015.02.001. Epub 2015 Feb 9.

PMID:
25677450
19.

A novel NKX2.5 loss-of-function mutation responsible for familial atrial fibrillation.

Huang RT, Xue S, Xu YJ, Zhou M, Yang YQ.

Int J Mol Med. 2013 May;31(5):1119-26. doi: 10.3892/ijmm.2013.1316. Epub 2013 Mar 22.

PMID:
23525379
20.

Isolation and characterization of the canine NKX2-5 gene.

Hyun C, Lavulo L, O'Leary C, Kim JT.

J Anim Breed Genet. 2006 Jun;123(3):213-6.

PMID:
16706928
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