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Year Number of Results
1993 1
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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
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2015 25
2016 25
2017 17
2018 26
2019 14
2020 17
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340 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. As these patients reach adulthood and have children, there has been a growing appreciation for the increased risk of CHD among thei …
Due to improved survival and clinical outcomes, congenital heart disease (CHD) is an area of growing importance within the medical co …
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.
Dilated cardiomyopathy (DCM), the most common form of primary myocardial disease, is a leading cause of congestive heart failure and the most common indication for heart transplantation. Recently, NKX2-5 mutations have been involved in the pathogenesis …
Dilated cardiomyopathy (DCM), the most common form of primary myocardial disease, is a leading cause of congestive heart failure and …
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 …
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 …
Csx/Nkx2-5 is required for homeostasis and survival of cardiac myocytes in the adult heart.
Toko H, Zhu W, Takimoto E, Shiojima I, Hiroi Y, Zou Y, Oka T, Akazawa H, Mizukami M, Sakamoto M, Terasaki F, Kitaura Y, Takano H, Nagai T, Nagai R, Komuro I. Toko H, et al. J Biol Chem. 2002 Jul 5;277(27):24735-43. doi: 10.1074/jbc.M107669200. Epub 2002 Mar 11. J Biol Chem. 2002. PMID: 11889119 Free article.
Csx/Nkx2-5, which is essential for cardiac development of the embryo, is abundantly expressed in the adult heart. We here examined the role of Csx/Nkx2-5 in the adult heart using two kinds of transgenic mice. Transgenic mice …
Csx/Nkx2-5, which is essential for cardiac development of the embryo, is abundantly expressed in the adult heart …
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 …
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.
Mutations in the Nkx2-5 gene are a main cause of congenital heart disease. Several studies have addressed the phenotypic consequences of disrupting the Nkx2-5 gene locus, although animal models to date failed to recapitulate the full spectrum of …
Mutations in the Nkx2-5 gene are a main cause of congenital heart disease. Several studies have addressed the phenotypi …
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 …
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 …
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 …
340 results