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Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
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Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. J Mol Cell Cardiol. 2000 Sep;32(9):1687-94. doi: 10.1006/jmcc.2000.1204.
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Alpha-cardiac actin mutations produce atrial septal defects. Hum Mol Genet. 2008 Jan 15;17(2):256-65. doi: 10.1093/hmg/ddm302. Epub 2007 Oct 18.
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Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect.Can J Cardiol. 2014 Feb;30(2):181-7. doi: 10.1016/j.cjca.2013.12.003. Epub 2013 Dec 6.
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Identification of genes and pathways associated with MDR in MCF-7/MDR breast cancer cells by RNA-seq analysis.Mol Med Rep. 2018 May;17(5):6211-6226. doi: 10.3892/mmr.2018.8704. Epub 2018 Mar 7.
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Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse.J Biol Chem. 2011 Aug 5;286(31):27582-93. doi: 10.1074/jbc.M111.252320. Epub 2011 May 26.
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Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes. Heart. 2008 Nov;94(11):1478-84. doi: 10.1136/hrt.2007.134684. Epub 2008 May 8.
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A cardiac -actin (ACTC1) p. Gly247Asp mutation inhibits SRF-signaling invitro in neonatal rat cardiomyocytes.Biochem Biophys Res Commun. 2019 Oct 20;518(3):500-505. doi: 10.1016/j.bbrc.2019.08.081. Epub 2019 Aug 18.
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Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro. J Mol Cell Cardiol. 2010 Feb;48(2):286-92. doi: 10.1016/j.yjmcc.2009.09.014. Epub 2009 Sep 30.
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Novel -Actin Gene Mutation p.(Ala21Val) Causing Familial Hypertrophic Cardiomyopathy, Myocardial Noncompaction, and Transmural Crypts. Clinical-Pathologic Correlation.J Am Heart Assoc. 2018 Feb 10;7(4):e008068. doi: 10.1161/JAHA.117.008068.
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Quantitative Proteomic and Network Analysis of Differentially Expressed Proteins in PBMC of Friedreich's Ataxia (FRDA) Patients.Front Neurosci. 2019 Oct 14;13:1054. doi: 10.3389/fnins.2019.01054. eCollection 2019.
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Two-dimensional differential in-gel electrophoresis for identification of gastric cancer-specific protein markers.Oncol Rep. 2009 Jun;21(6):1429-37. doi: 10.3892/or_00000371.
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Actin, alpha, cardiac muscle 1 (ACTC1) knockdown inhibits the migration of glioblastoma cells in vitro.J Neurol Sci. 2018 Sep 15;392:117-121. doi: 10.1016/j.jns.2018.07.013. Epub 2018 Jul 17.
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ACTC1 as an invasion and prognosis marker in glioma.J Neurosurg. 2017 Feb;126(2):467-475. doi: 10.3171/2016.1.JNS152075. Epub 2016 Apr 15.
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Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects.Eur Heart J. 2007 Aug;28(16):1953-61. doi: 10.1093/eurheartj/ehm239. Epub 2007 Jul 4.
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Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. J Clin Invest. 1999 May 15;103(10):R39-43. doi: 10.1172/JCI6460.
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Familial left ventricular noncompaction associated with a novel mutation in the alpha-cardiac actin gene.Rev Esp Cardiol (Engl Ed). 2014 Oct;67(10):857-9. doi: 10.1016/j.rec.2014.05.015. Epub 2014 Sep 5.
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Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction.Pediatr Cardiol. 2009 Jul;30(5):659-81. doi: 10.1007/s00246-008-9359-0. Epub 2009 Jan 29.
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Proteome and transcriptome profiling of equine myofibrillar myopathy identifies diminished peroxiredoxin 6 and altered cysteine metabolic pathways.Physiol Genomics. 2018 Dec 1;50(12):1036-1050. doi: 10.1152/physiolgenomics.00044.2018. Epub 2018 Oct 5.
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Actin alpha cardiac muscle 1 gene expression is upregulated in the skeletal muscle of men undergoing androgen deprivation therapy for prostate cancer.J Steroid Biochem Mol Biol. 2017 Nov;174:56-64. doi: 10.1016/j.jsbmb.2017.07.029. Epub 2017 Jul 27.
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Functional effects of nemaline myopathy mutations on human skeletal alpha-actin.J Biol Chem. 2008 Jul 11;283(28):19379-88. doi: 10.1074/jbc.M801963200. Epub 2008 May 12.
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A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.Nat Genet. 2010 Oct;42(10):897-901. doi: 10.1038/ng.663. Epub 2010 Sep 12.
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No evidence for linkage between schizophrenia and markers at chromosome 15q13-14.Am J Med Genet. 1999 Apr 16;88(2):109-12. doi: 10.1002/(sici)1096-8628(19990416)88:2<109::aid-ajmg1>3.0.co;2-3.
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The NFKB1 -94 ATTG insertion/deletion polymorphism (rs28362491) contributes to the susceptibility of congenital heart disease in a Chinese population.Gene. 2013 Mar 10;516(2):307-10. doi: 10.1016/j.gene.2012.12.078. Epub 2013 Jan 5.
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Prenatal diagnosis and molecular cytogenetic characterization of a de novo 4.858-Mb microdeletion in 15q14 associated with ACTC1 and MEIS2 haploinsufficiency and tetralogy of Fallot.Taiwan J Obstet Gynecol. 2016 Apr;55(2):270-4. doi: 10.1016/j.tjog.2016.02.013.
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Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science. 1998 May 1;280(5364):750-2. doi: 10.1126/science.280.5364.750.
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Nifedipine represses ion channels, transporters and Ca(2+)-binding proteins in hearts of spontaneously hypertensive rats.Toxicol Appl Pharmacol. 2006 Jun 15;213(3):224-34. doi: 10.1016/j.taap.2005.10.012. Epub 2005 Dec 15.
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Cardiac -Actin (ACTC1) Gene Mutation Causes Atrial-Septal Defects Associated With Late-Onset Dilated Cardiomyopathy.Circ Genom Precis Med. 2019 Aug;12(8):e002491. doi: 10.1161/CIRCGEN.119.002491. Epub 2019 Aug 20.
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A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline Defects.PLoS One. 2015 Jun 10;10(6):e0127903. doi: 10.1371/journal.pone.0127903. eCollection 2015.
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Reduced ACTC1 expression might play a role in the onset of congenital heart disease by inducing cardiomyocyte apoptosis.Circ J. 2010 Nov;74(11):2410-8. doi: 10.1253/circj.cj-10-0234. Epub 2010 Oct 15.
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Congenital heart defects are rarely caused by mutations in cardiac and smooth muscle actin genes.Biomed Res Int. 2015;2015:127807. doi: 10.1155/2015/127807. Epub 2015 Mar 10.
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Hepatocellular carcinoma-associated protein markers investigated by MALDI-TOF MS.Mol Med Rep. 2010 Jul-Aug;3(4):589-96. doi: 10.3892/mmr_00000302.
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Human embryonic stem cell-derived test systems for developmental neurotoxicity: a transcriptomics approach. Arch Toxicol. 2013 Jan;87(1):123-43.
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Transcriptional and Metabolic Dissection of ATRA-Induced Granulocytic Differentiation in NB4 Acute Promyelocytic Leukemia Cells. Cells. 2020 Nov 5;9(11):2423. doi: 10.3390/cells9112423.
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Bringing in vitro analysis closer to in vivo: studying doxorubicin toxicity and associated mechanisms in 3D human microtissues with PBPK-based dose modelling. Toxicol Lett. 2018 Sep 15;294:184-192.
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Physiological and toxicological transcriptome changes in HepG2 cells exposed to copper. Physiol Genomics. 2009 Aug 7;38(3):386-401.
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The effect of estrogen compounds on human embryoid bodies. Reprod Sci. 2013 Jun;20(6):661-9. doi: 10.1177/1933719112462630. Epub 2012 Nov 26.
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Transcriptome and DNA methylome dynamics during triclosan-induced cardiomyocyte differentiation toxicity. Stem Cells Int. 2018 Oct 29;2018:8608327.
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Gene Expression Regulation and Pathway Analysis After Valproic Acid and Carbamazepine Exposure in a Human Embryonic Stem Cell-Based Neurodevelopmental Toxicity Assay. Toxicol Sci. 2015 Aug;146(2):311-20. doi: 10.1093/toxsci/kfv094. Epub 2015 May 15.
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Effects of progesterone treatment on expression of genes involved in uterine quiescence. Reprod Sci. 2011 Aug;18(8):781-97.
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Neuronal and cardiac toxicity of pharmacological compounds identified through transcriptomic analysis of human pluripotent stem cell-derived embryoid bodies. Toxicol Appl Pharmacol. 2021 Dec 15;433:115792. doi: 10.1016/j.taap.2021.115792. Epub 2021 Nov 3.
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Cytosine arabinoside induces ectoderm and inhibits mesoderm expression in human embryonic stem cells during multilineage differentiation. Br J Pharmacol. 2011 Apr;162(8):1743-56.
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Dasatinib reverses cancer-associated fibroblasts (CAFs) from primary lung carcinomas to a phenotype comparable to that of normal fibroblasts. Mol Cancer. 2010 Jun 27;9:168.
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Gene expression profile induced by BCNU in human glioma cell lines with differential MGMT expression. J Neurooncol. 2005 Jul;73(3):189-98.
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Methamphetamine alters the normal progression by inducing cell cycle arrest in astrocytes. PLoS One. 2014 Oct 7;9(10):e109603.
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Ethyl carbamate induces cell death through its effects on multiple metabolic pathways. Chem Biol Interact. 2017 Nov 1;277:21-32.
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A transcriptome-based classifier to identify developmental toxicants by stem cell testing: design, validation and optimization for histone deacetylase inhibitors. Arch Toxicol. 2015 Sep;89(9):1599-618.
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Air pollution and DNA methylation alterations in lung cancer: A systematic and comparative study. Oncotarget. 2017 Jan 3;8(1):1369-1391. doi: 10.18632/oncotarget.13622.
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Cell-based two-dimensional morphological assessment system to predict cancer drug-induced cardiotoxicity using human induced pluripotent stem cell-derived cardiomyocytes. Toxicol Appl Pharmacol. 2019 Nov 15;383:114761. doi: 10.1016/j.taap.2019.114761. Epub 2019 Sep 15.
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Bisphenol A and bisphenol S induce distinct transcriptional profiles in differentiating human primary preadipocytes. PLoS One. 2016 Sep 29;11(9):e0163318.
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From transient transcriptome responses to disturbed neurodevelopment: role of histone acetylation and methylation as epigenetic switch between reversible and irreversible drug effects. Arch Toxicol. 2014 Jul;88(7):1451-68.
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Identification of gene markers for formaldehyde exposure in humans. Environ Health Perspect. 2007 Oct;115(10):1460-6. doi: 10.1289/ehp.10180.
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Transcriptome and DNA methylation changes modulated by sulforaphane induce cell cycle arrest, apoptosis, DNA damage, and suppression of proliferation in human liver cancer cells. Food Chem Toxicol. 2020 Feb;136:111047. doi: 10.1016/j.fct.2019.111047. Epub 2019 Dec 12.
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