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Year Number of Results
1993 1
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1997 2
1998 3
1999 7
2000 2
2001 5
2002 5
2003 7
2004 5
2005 10
2006 10
2007 15
2008 18
2009 20
2010 21
2011 19
2012 29
2013 29
2014 24
2015 25
2016 25
2017 17
2018 26
2019 14
2020 17
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329 results

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Page 1
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. ...Given the complex nature of cardiac development, it is not surprising that multiple transcription factors and signaling molecule …
Due to improved survival and clinical outcomes, congenital heart disease (CHD) is an area of growing importance within the medical co …
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.
Nielsen JB, Thorolfsdottir RB, Fritsche LG, Zhou W, Skov MW, Graham SE, Herron TJ, McCarthy S, Schmidt EM, Sveinbjornsson G, Surakka I, Mathis MR, Yamazaki M, Crawford RD, Gabrielsen ME, Skogholt AH, Holmen OL, Lin M, Wolford BN, Dey R, Dalen H, Sulem P, Chung JH, Backman JD, Arnar DO, Thorsteinsdottir U, Baras A, O'Dushlaine C, Holst AG, Wen X, Hornsby W, Dewey FE, Boehnke M, Kheterpal S, Mukherjee B, Lee S, Kang HM, Holm H, Kitzman J, Shavit JA, Jalife J, Brummett CM, Teslovich TM, Carey DJ, Gudbjartsson DF, Stefansson K, Abecasis GR, Hveem K, Willer CJ. Nielsen JB, et al. Nat Genet. 2018 Sep;50(9):1234-1239. doi: 10.1038/s41588-018-0171-3. Epub 2018 Jul 30. Nat Genet. 2018. PMID: 30061737 Free PMC article.
Many of the identified risk variants fall near genes where more deleterious mutations have been reported to cause serious heart defects in humans (GATA4, MYH6, NKX2-5, PITX2, TBX5)(1), or near genes important for striated muscle function and integrity (for ex …
Many of the identified risk variants fall near genes where more deleterious mutations have been reported to cause serious heart defec …
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.
Recently, NKX2-5 mutations have been involved in the pathogenesis of familial DCM. ...A total of 300 unrelated healthy individuals used as controls were also genotyped for NKX2-5. The functional effect of the mutant NKX2-5 was investigate …
Recently, NKX2-5 mutations have been involved in the pathogenesis of familial DCM. ...A total of 300 unrelated healthy individ …
Association of NFKB1, NKX2-5, GATA4 and RANKL Gene Polymorphisms with Sporadic Congenital Heart Disease in Greek Patients.
Aidinidou L, Chatzikyriakidou A, Giannopoulos A, Karpa V, Tzimou I, Aidinidou E, Fidani L. Aidinidou L, et al. Balkan J Med Genet. 2021 Jul 27;24(1):15-20. doi: 10.2478/bjmg-2021-0014. eCollection 2021 Jun. Balkan J Med Genet. 2021. PMID: 34447654 Free PMC article.
Congenital heart disease (CHD) is a group of structural defects of the heart and the great vessels, and one of the leading causes of death among infants and young adults. ...A total of 43 CHD patients and 100 healthy adults were included in the study. …
Congenital heart disease (CHD) is a group of structural defects of the heart and the great vessels, and one of the leading cau …
Activation of Nkx2.5 transcriptional program is required for adult myocardial repair.
de Sena-Tomás C, Aleman AG, Ford C, Varshney A, Yao D, Harrington JK, Saúde L, Ramialison M, Targoff KL. de Sena-Tomás C, et al. Nat Commun. 2022 May 27;13(1):2970. doi: 10.1038/s41467-022-30468-4. Nat Commun. 2022. PMID: 35624100 Free PMC article.
Here, we show that cardiac-specific RNA-sequencing studies reveal a disrupted embryonic transcriptional profile in the adult Nkx2.5 loss-of-function myocardium. nkx2.5(-/-) fish exhibit an impaired ability to recover following ventricular apex a …
Here, we show that cardiac-specific RNA-sequencing studies reveal a disrupted embryonic transcriptional profile in the adult Nkx2
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
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 Free article.
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<1.410(-4)). The penetrance of serious heart disease among carrie …
Both variants associate with heart failure and sudden cardiac death. Additionally, p.Phe145Leu in NKX2-5 associates wit …
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
Tinman/Nkx2-5 acts via miR-1 and upstream of Cdc42 to regulate heart function across species.
Qian L, Wythe JD, Liu J, Cartry J, Vogler G, Mohapatra B, Otway RT, Huang Y, King IN, Maillet M, Zheng Y, Crawley T, Taghli-Lamallem O, Semsarian C, Dunwoodie S, Winlaw D, Harvey RP, Fatkin D, Towbin JA, Molkentin JD, Srivastava D, Ocorr K, Bruneau BG, Bodmer R. Qian L, et al. J Cell Biol. 2011 Jun 27;193(7):1181-96. doi: 10.1083/jcb.201006114. Epub 2011 Jun 20. J Cell Biol. 2011. PMID: 21690310 Free PMC article.
In exploring the mechanism of Nkx2-5 interaction with Cdc42, we demonstrated that mouse Cdc42 was a target of, and negatively regulated by miR-1, which itself was negatively regulated by Nkx2-5 in the mouse heart and by Tinman in the fly hear
In exploring the mechanism of Nkx2-5 interaction with Cdc42, we demonstrated that mouse Cdc42 was a target of, and negatively …
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. Salazar M, et al. Eur J Med Genet. 2011 May-Jun;54(3):306-9. doi: 10.1016/j.ejmg.2011.01.004. Epub 2011 Jan 27. Eur J Med Genet. 2011. PMID: 21276881
High prevalence of somatic mutations in the cardiac transcription factor genes NKX2.5 and GATA4 have been reported in the affected cardiovascular tissue of patients with isolated cardiac septal defects, suggesting a role of somatic mutations in the pathogenesis of t …
High prevalence of somatic mutations in the cardiac transcription factor genes NKX2.5 and GATA4 have been reported in the affe …
329 results