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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1996 1
1997 2
1998 3
1999 7
2000 2
2001 5
2002 4
2003 6
2004 5
2005 9
2006 8
2007 14
2008 18
2009 19
2010 20
2011 19
2012 28
2013 27
2014 21
2015 24
2016 23
2017 16
2018 25
2019 13
2020 7
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284 results
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Page 1
Variants in NKX2-5 and FLNC Cause Dilated Cardiomyopathy and Sudden Cardiac Death.
Sveinbjornsson G, Olafsdottir EF, Thorolfsdottir RB, Davidsson OB, Helgadottir A, Jonasdottir A, Jonasdottir A, Bjornsson E, Jensson BO, Arnadottir GA, Kristinsdottir H, Stephensen SS, Oskarsson G, Gudbjartsson T, Sigurdsson EL, Andersen K, Danielsen R, Arnar DO, Jonsdottir I, Thorsteinsdottir U, Sulem P, Thorgeirsson G, Gudbjartsson DF, Holm H, Stefansson K. Sveinbjornsson G, et al. Circ Genom Precis Med. 2018 Aug;11(8):e002151. doi: 10.1161/CIRCGEN.117.002151. Circ Genom Precis Med. 2018. PMID: 30354339
Both variants associate with heart failure and sudden cardiac death. Additionally, p.Phe145Leu in NKX2-5 associates with high degree atrioventricular block and atrial septal defect ( P<1.4×10(-4)). The penetrance of serious heart disease among carri …
Both variants associate with heart failure and sudden cardiac death. Additionally, p.Phe145Leu in NKX2-5 associates wit …
Genetic Origins of Tetralogy of Fallot.
Morgenthau A, Frishman WH. Morgenthau A, et al. Cardiol Rev. 2018 Mar/Apr;26(2):86-92. doi: 10.1097/CRD.0000000000000170. Cardiol Rev. 2018. PMID: 29045289 Review.
Due to improved survival and clinical outcomes, congenital heart disease (CHD) is an area of growing importance within the medical community. ...This review focuses on the well-characterized genes gata4, nkx2.5, jag1, foxc2, tbx5, and tbx1, which have been pr …
Due to improved survival and clinical outcomes, congenital heart disease (CHD) is an area of growing importance within the medical co …
A context-specific cardiac β-catenin and GATA4 interaction influences TCF7L2 occupancy and remodels chromatin driving disease progression in the adult heart.
Iyer LM, Nagarajan S, Woelfer M, Schoger E, Khadjeh S, Zafiriou MP, Kari V, Herting J, Pang ST, Weber T, Rathjens FS, Fischer TH, Toischer K, Hasenfuss G, Noack C, Johnsen SA, Zelarayán LC. Iyer LM, et al. Nucleic Acids Res. 2018 Apr 6;46(6):2850-2867. doi: 10.1093/nar/gky049. Nucleic Acids Res. 2018. PMID: 29394407 Free PMC article.
Chromatin remodelling precedes transcriptional and structural changes in heart failure. A body of work suggests roles for the developmental Wnt signalling pathway in cardiac remodelling. ...Mechanistically, TCF7L2 co-occupies distal genomic regions with cardiac transcripti …
Chromatin remodelling precedes transcriptional and structural changes in heart failure. A body of work suggests roles for the develop …
Prevalence and Spectrum of NKX2-5 Mutations Associated With Sporadic Adult-Onset Dilated Cardiomyopathy.
Xu JH, Gu JY, Guo YH, Zhang H, Qiu XB, Li RG, Shi HY, Liu H, Yang XX, Xu YJ, Qu XK, Yang YQ. Xu JH, et al. Int Heart J. 2017 Aug 3;58(4):521-529. doi: 10.1536/ihj.16-440. Epub 2017 Jul 10. Int Heart J. 2017. PMID: 28690296 Free article.
As a result, two novel heterozygous NKX2-5 mutations, p.R139W and p.E167X, were identified in 2 unrelated patients with sporadic adult-onset DCM, with a mutational prevalence of approximately 0.95%. ...Functional assays revealed that the NKX2-5 …
As a result, two novel heterozygous NKX2-5 mutations, p.R139W and p.E167X, were identified in 2 unrelated patients with sporad …
Point mutations in murine Nkx2-5 phenocopy human congenital heart disease and induce pathogenic Wnt signaling.
Furtado MB, Wilmanns JC, Chandran A, Perera J, Hon O, Biben C, Willow TJ, Nim HT, Kaur G, Simonds S, Wu Q, Willians D, Salimova E, Plachta N, Denegre JM, Murray SA, Fatkin D, Cowley M, Pearson JT, Kaye D, Ramialison M, Harvey RP, Rosenthal NA, Costa MW. Furtado MB, et al. JCI Insight. 2017 Mar 23;2(6):e88271. doi: 10.1172/jci.insight.88271. JCI Insight. 2017. PMID: 28352650 Free PMC article.
We further describe the molecular consequences of disrupting the transcriptional network regulated by Nkx2-5 in the heart and show that Nkx2-5-dependent perturbation of the Wnt signaling pathway promotes heart dysfunction through alterati …
We further describe the molecular consequences of disrupting the transcriptional network regulated by Nkx2-5 in the heart …
NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity.
Abou Hassan OK, Fahed AC, Batrawi M, Arabi M, Refaat MM, DePalma SR, Seidman JG, Seidman CE, Bitar FF, Nemer GM. Abou Hassan OK, et al. Sci Rep. 2015 Mar 6;5:8848. doi: 10.1038/srep08848. Sci Rep. 2015. PMID: 25742962 Free PMC article.
NKX2-5 mutations are associated with different forms of congenital heart disease. Despite the knowledge gained from molecular and animal studies, genotype-phenotype correlations in humans are limited by the lack of large cohorts and the incomplete assessment …
NKX2-5 mutations are associated with different forms of congenital heart disease. Despite the knowledge gained from mol …
Investigation of NKX2.5 gene mutations in congenital heart defects in an Indian population.
Ketharnathan S, Koshy T, Sethuratnam R, Paul S, Venkatesan V. Ketharnathan S, et al. Genet Test Mol Biomarkers. 2015 Oct;19(10):579-83. doi: 10.1089/gtmb.2015.0112. Epub 2015 Aug 14. Genet Test Mol Biomarkers. 2015. PMID: 26273787
BACKGROUND AND AIM: Mutations in the NKX2.5 gene, a cardiac transcription factor, have been implicated in various types of congenital heart defects (CHD) and it is known that optimal expression levels of this gene are crucial for proper cardiogenesis. ...CONC …
BACKGROUND AND AIM: Mutations in the NKX2.5 gene, a cardiac transcription factor, have been implicated in various types of con …
Furin, a transcriptional target of NKX2-5, has an essential role in heart development and function.
Dupays L, Towers N, Wood S, David A, Stuckey DJ, Mohun T. Dupays L, et al. PLoS One. 2019 Mar 6;14(3):e0212992. doi: 10.1371/journal.pone.0212992. eCollection 2019. PLoS One. 2019. PMID: 30840660 Free PMC article.
The homeodomain transcription factor NKX2-5 is known to be essential for both normal heart development and for heart function. ...Our results show that Furin mediate some aspects of Nkx2-5 function in the heart....
The homeodomain transcription factor NKX2-5 is known to be essential for both normal heart development and for heart …
Allele-specific NKX2-5 binding underlies multiple genetic associations with human electrocardiographic traits.
Benaglio P, D'Antonio-Chronowska A, Ma W, Yang F, Young Greenwald WW, Donovan MKR, DeBoever C, Li H, Drees F, Singhal S, Matsui H, van Setten J, Sotoodehnia N, Gaulton KJ, Smith EN, D'Antonio M, Rosenfeld MG, Frazer KA. Benaglio P, et al. Nat Genet. 2019 Oct;51(10):1506-1517. doi: 10.1038/s41588-019-0499-3. Epub 2019 Sep 30. Nat Genet. 2019. PMID: 31570892 Free PMC article.
The cardiac transcription factor (TF) gene NKX2-5 has been associated with electrocardiographic (EKG) traits through genome-wide association studies (GWASs), but the extent to which differential binding of NKX2-5 at common regulatory variants contribut …
The cardiac transcription factor (TF) gene NKX2-5 has been associated with electrocardiographic (EKG) traits through genome-wi …
Congenital heart defect causing mutation in Nkx2.5 displays in vivo functional deficit.
Zakariyah AF, Rajgara RF, Veinot JP, Skerjanc IS, Burgon PG. Zakariyah AF, et al. J Mol Cell Cardiol. 2017 Apr;105:89-98. doi: 10.1016/j.yjmcc.2017.03.003. Epub 2017 Mar 14. J Mol Cell Cardiol. 2017. PMID: 28302382
The Nkx2.5 gene encodes a transcription factor that plays a critical role in heart development. In humans, heterozygous mutations in NKX2.5 result in congenital heart defects (CHDs). ...Histological examination of Nkx2.5(R14 …
The Nkx2.5 gene encodes a transcription factor that plays a critical role in heart development. In humans, heterozygous …
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