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HAND1 loss-of-function within the embryonic myocardium reveals survivable congenital cardiac defects and adult heart failure.
Firulli BA, George RM, Harkin J, Toolan KP, Gao H, Liu Y, Zhang W, Field LJ, Liu Y, Shou W, Payne RM, Rubart-von der Lohe M, Firulli AB. Firulli BA, et al. Cardiovasc Res. 2020 Mar 1;116(3):605-618. doi: 10.1093/cvr/cvz182. Cardiovasc Res. 2020. PMID: 31286141 Free PMC article.
AIMS: To examine the role of the basic Helix-loop-Helix (bHLH) transcription factor HAND1 in embryonic and adult myocardium. METHODS AND RESULTS: Hand1 is expressed within the cardiomyocytes of the left ventricle (LV) and myocardial cuff between embryonic day …
AIMS: To examine the role of the basic Helix-loop-Helix (bHLH) transcription factor HAND1 in embryonic and adult myocardium. M …
HAND1 and HAND2 are expressed in the adult-rodent heart and are modulated during cardiac hypertrophy.
Thattaliyath BD, Livi CB, Steinhelper ME, Toney GM, Firulli AB. Thattaliyath BD, et al. Biochem Biophys Res Commun. 2002 Oct 4;297(4):870-5. doi: 10.1016/s0006-291x(02)02297-0. Biochem Biophys Res Commun. 2002. PMID: 12359233
Although highly evolutionarily conserved genes, HAND cardiac expression patterns differ across species. Mouse expression of HAND1 and HAND2 was reported absent in the adult heart. Human HAND genes are expressed in the adult heart and HAND1
Although highly evolutionarily conserved genes, HAND cardiac expression patterns differ across species. Mouse expression of HAND1 and …
Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.
Goldmuntz E, Paluru P, Glessner J, Hakonarson H, Biegel JA, White PS, Gai X, Shaikh TH. Goldmuntz E, et al. Congenit Heart Dis. 2011 Nov-Dec;6(6):592-602. doi: 10.1111/j.1747-0803.2011.00582.x. Epub 2011 Oct 20. Congenit Heart Dis. 2011. PMID: 22010865 Free PMC article.
These CNVs contained between 1 and 55 genes, including NRP1, NTRK3, MESP1, ADAM19, and HAND1, all of which are known to participate in cardiac development. CONCLUSIONS: Genome-wide analysis in patients with congenital heart disease and additional phenotypes has iden …
These CNVs contained between 1 and 55 genes, including NRP1, NTRK3, MESP1, ADAM19, and HAND1, all of which are known to participate i …
Molecular cloning of the human Hand1 gene/cDNA and its tissue-restricted expression in cytotrophoblastic cells and heart.
Knöfler M, Meinhardt G, Vasicek R, Husslein P, Egarter C. Knöfler M, et al. Gene. 1998 Dec 11;224(1-2):77-86. doi: 10.1016/s0378-1119(98)00511-3. Gene. 1998. PMID: 9931445
Here, we report the cloning of the human Hand1 cDNA and gene from a heart-specific cDNA library and a genomic lambda-DNA library, respectively. ...The expression pattern of the mRNA in different human tissues revealed that Hand1 transcripts are restricted to …
Here, we report the cloning of the human Hand1 cDNA and gene from a heart-specific cDNA library and a genomic lambda-DNA libra …
HAND1 loss-of-function mutation associated with familial dilated cardiomyopathy.
Zhou YM, Dai XY, Qiu XB, Yuan F, Li RG, Xu YJ, Qu XK, Huang RT, Xue S, Yang YQ. Zhou YM, et al. Clin Chem Lab Med. 2016 Jul 1;54(7):1161-7. doi: 10.1515/cclm-2015-0766. Clin Chem Lab Med. 2016. PMID: 26581070
BACKGROUND: The basic helix-loop-helix transcription factor HAND1 is essential for cardiac development and structural remodeling, and mutations in HAND1 have been causally linked to various congenital heart diseases. However, whether genetically compromised …
BACKGROUND: The basic helix-loop-helix transcription factor HAND1 is essential for cardiac development and structural remodeling, and …
Hand factor ablation causes defective left ventricular chamber development and compromised adult cardiac function.
Vincentz JW, Toolan KP, Zhang W, Firulli AB. Vincentz JW, et al. PLoS Genet. 2017 Jul 21;13(7):e1006922. doi: 10.1371/journal.pgen.1006922. eCollection 2017 Jul. PLoS Genet. 2017. PMID: 28732025 Free PMC article.
Coordinated cardiomyocyte growth, differentiation, and morphogenesis are essential for heart formation. We demonstrate that the bHLH transcription factors Hand1 and Hand2 play critical regulatory roles for left ventricle (LV) cardiomyocyte proliferation and morphoge …
Coordinated cardiomyocyte growth, differentiation, and morphogenesis are essential for heart formation. We demonstrate that the bHLH …
Molecular determinants of left and right outflow tract obstruction.
Towbin JA, Belmont J. Towbin JA, et al. Am J Med Genet. 2000 Winter;97(4):297-303. doi: 10.1002/1096-8628(200024)97:4<297::aid-ajmg1280>3.0.co;2-o. Am J Med Genet. 2000. PMID: 11376441 Review.
Congenital heart defects represent the most common group of human birth defects; they occur in 0.8-1% of live births and in 10% of spontaneously aborted fetuses. Heart defects seen in newborns typically represent specific morphogenetic defects of individual chambers …
Congenital heart defects represent the most common group of human birth defects; they occur in 0.8-1% of live births and in 10% of sp …
Molecular mechanisms controlling the coupled development of myocardium and coronary vasculature.
Bhattacharya S, Macdonald ST, Farthing CR. Bhattacharya S, et al. Clin Sci (Lond). 2006 Jul;111(1):35-46. doi: 10.1042/CS20060003. Clin Sci (Lond). 2006. PMID: 16764556 Review.
Cardiac failure affects 1.5% of the adult population and is predominantly caused by myocardial dysfunction secondary to coronary vascular insufficiency. ...Pharmacological targeting of these molecules and pathways could, in principle, be used to recreate the embryonic stat …
Cardiac failure affects 1.5% of the adult population and is predominantly caused by myocardial dysfunction secondary to coronary vasc …
Overexpression of the transcription factor Hand1 causes predisposition towards arrhythmia in mice.
Breckenridge RA, Zuberi Z, Gomes J, Orford R, Dupays L, Felkin LE, Clark JE, Magee AI, Ehler E, Birks EJ, Barton PJ, Tinker A, Mohun TJ. Breckenridge RA, et al. J Mol Cell Cardiol. 2009 Jul;47(1):133-41. doi: 10.1016/j.yjmcc.2009.04.007. Epub 2009 Apr 17. J Mol Cell Cardiol. 2009. PMID: 19376125
Elevated levels of the cardiac transcription factor Hand1 have been reported in several adult cardiac diseases but it is unclear whether this change is itself maladaptive with respect to heart function. To test this possibility, we have developed a novel, ind …
Elevated levels of the cardiac transcription factor Hand1 have been reported in several adult cardiac diseases but it is uncle …
Hypoxic regulation of hand1 controls the fetal-neonatal switch in cardiac metabolism.
Breckenridge RA, Piotrowska I, Ng KE, Ragan TJ, West JA, Kotecha S, Towers N, Bennett M, Kienesberger PC, Smolenski RT, Siddall HK, Offer JL, Mocanu MM, Yelon DM, Dyck JR, Griffin JL, Abramov AY, Gould AP, Mohun TJ. Breckenridge RA, et al. PLoS Biol. 2013 Sep;11(9):e1001666. doi: 10.1371/journal.pbio.1001666. Epub 2013 Sep 24. PLoS Biol. 2013. PMID: 24086110 Free PMC article.
Myocardial oxygen consumption is determined by regulation of energy metabolism, which shifts from glycolysis to lipid oxidation soon after birth, and is reversed in failing adult hearts, accompanying re-expression of several "fetal" genes whose role in disease pheno …
Myocardial oxygen consumption is determined by regulation of energy metabolism, which shifts from glycolysis to lipid oxidation soon after b …
24 results