| Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects. | Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Chong JX, Childers MC, Marvin CT, Marcello AJ, Gonorazky H, Hazrati LN, Dowling JJ, Al Amrani F, Alanay Y, Nieto Y, Gabriel MÁM, Aylsworth AS, Buckingham KJ, Shively KM, Sommers O, Anderson K, University of Washington Center for Mendelian Genomics, University of Washington Center for Rare Disease Research, Regnier M, Bamshad MJ., Free PMC Article | 09/8/2023 |
| Cardiac troponin T N-domain variant destabilizes the actin interface resulting in disturbed myofilament function. | Cardiac troponin T N-domain variant destabilizes the actin interface resulting in disturbed myofilament function.
Landim-Vieira M, Ma W, Song T, Rastegarpouyani H, Gong H, Coscarella IL, Bogaards SJP, Conijn SP, Ottenheijm CAC, Hwang HS, Papadaki M, Knollmann BC, Sadayappan S, Irving TC, Galkin VE, Chase PB, Pinto JR., Free PMC Article | 08/25/2023 |
| Description of a Novel Cardiac Phenotype Associated With a Missense Variant in the Cardiac alpha-Actin (ACTC1) Gene. | Description of a Novel Cardiac Phenotype Associated With a Missense Variant in the Cardiac α-Actin (ACTC1) Gene.
Toledano-Delgado FJ, Jimenez-Alcantara I, Cobo-Molinos J, Carrasco-Avalos F, Mazuelos F, Urbano-Moral JA. | 04/20/2023 |
| Mutational Assessment in NKX2-5 and ACTC1 Genes in Patients with Congenital Cardiac Septal Defect (CCSD) from Ethnic Kashmiri Population. | Mutational Assessment in NKX2-5 and ACTC1 Genes in Patients with Congenital Cardiac Septal Defect (CCSD) from Ethnic Kashmiri Population.
Nazeer NU, Bhat MA, Rah B, Bhat GR, Wani SI, Yousuf A, Dar AM, Afroze D., Free PMC Article | 09/3/2022 |
| Use of a human embryonic stem cell model to discover GABRP, WFDC2, VTCN1 and ACTC1 as markers of early first trimester human trophoblast. | Use of a human embryonic stem cell model to discover GABRP, WFDC2, VTCN1 and ACTC1 as markers of early first trimester human trophoblast.
Karvas RM, McInturf S, Zhou J, Ezashi T, Schust DJ, Roberts RM, Schulz LC., Free PMC Article | 08/14/2021 |
| The Dark Side of Actin: Cardiac actin variants highlight the role of allostery in disease development. | The Dark Side of Actin: Cardiac actin variants highlight the role of allostery in disease development.
Teng GZ, Dawson JF. | 12/12/2020 |
| Whole blood ACTB, B2M and GAPDH expression reflects activity of inflammatory bowel disease, advancement of colorectal cancer, and correlates with circulating inflammatory and angiogenic factors: Relevance for real-time quantitative PCR. | Whole blood ACTB, B2M and GAPDH expression reflects activity of inflammatory bowel disease, advancement of colorectal cancer, and correlates with circulating inflammatory and angiogenic factors: Relevance for real-time quantitative PCR.
Bednarz-Misa I, Neubauer K, Zacharska E, Kapturkiewicz B, Krzystek-Korpacka M. | 10/10/2020 |
| A combined phenotype of atrial-septal defects and late-onset heart failure was caused by a heterozygous, nonsynonymous ACTC1 mutation. | Cardiac α-Actin (ACTC1) Gene Mutation Causes Atrial-Septal Defects Associated With Late-Onset Dilated Cardiomyopathy.
Frank D, Yusuf Rangrez A, Friedrich C, Dittmann S, Stallmeyer B, Yadav P, Bernt A, Schulze-Bahr E, Borlepawar A, Zimmermann WH, Peischard S, Seebohm G, Linke WA, Baba HA, Krüger M, Unger A, Usinger P, Frey N, Schulze-Bahr E. | 07/25/2020 |
| These data suggest that human ACTC1 p. Gly247Asp mutation negatively regulates serum response factor -signaling likely contributing to the late-onset dilated cardiomyopathy observed in mutation carrier patients. | A cardiac α-actin (ACTC1) p. Gly247Asp mutation inhibits SRF-signaling in vitro in neonatal rat cardiomyocytes.
Rangrez AY, Kilian L, Stiebeling K, Dittmann S, Schulze-Bahr E, Frey N, Frank D. | 06/13/2020 |
| Novel p.(Ala21Val) mutation of ACTC1 causes myofibrillar and intercalated disc alteration leading to familial hypertrophic cardiomyopathy and LV myocardial noncompaction with transmural crypts. | Novel α-Actin Gene Mutation p.(Ala21Val) Causing Familial Hypertrophic Cardiomyopathy, Myocardial Noncompaction, and Transmural Crypts. Clinical-Pathologic Correlation.
Frustaci A, De Luca A, Guida V, Biagini T, Mazza T, Gaudio C, Letizia C, Russo MA, Galea N, Chimenti C., Free PMC Article | 10/26/2019 |
| arrhythmogenesis was evident in all E99K-ACTC1 human induced pluripotent stem cell-derived cardiomyocytes. | Isogenic Pairs of hiPSC-CMs with Hypertrophic Cardiomyopathy/LVNC-Associated ACTC1 E99K Mutation Unveil Differential Functional Deficits.
Smith JGW, Owen T, Bhagwan JR, Mosqueira D, Scott E, Mannhardt I, Patel A, Barriales-Villa R, Monserrat L, Hansen A, Eschenhagen T, Harding SE, Marston S, Denning C., Free PMC Article | 09/21/2019 |
| ACTC1 is expressed in a large subset of gliomas, especially high-grade tumors. ACTC1-positive gliomas indicated poorer prognosis compared with ACTC1-negative gliomas. | ACTC1 as an invasion and prognosis marker in glioma.
Ohtaki S, Wanibuchi M, Kataoka-Sasaki Y, Sasaki M, Oka S, Noshiro S, Akiyama Y, Mikami T, Mikuni N, Kocsis JD, Honmou O. | 09/7/2019 |
| These findings suggest that the familial ostium secundum atrial septal defect (ASDII)may be a result of an ACTC1 3'UTR gain-of-function mutation caused by the introduction of a new miR-139-5p target site. Our results provide the first evidence of a pathogenic mutation in the ACTC1 3'UTR that may be associated with familial isolated ASDII. | A gain-of-function ACTC1 3'UTR mutation that introduces a miR-139-5p target site may be associated with a dominant familial atrial septal defect.
Wang Y, Du X, Zhou Z, Jiang J, Zhang Z, Ye L, Hong H., Free PMC Article | 02/3/2018 |
| In conclusion, given that ACTC1 upregulation is associated with improved muscle function in certain myopathies, we hypothesize that upregulation of ACTC1 may represent a compensatory response to androgen deprivation therapy-induced muscle loss | Actin alpha cardiac muscle 1 gene expression is upregulated in the skeletal muscle of men undergoing androgen deprivation therapy for prostate cancer.
Cheung AS, de Rooy C, Levinger I, Rana K, Clarke MV, How JM, Garnham A, McLean C, Zajac JD, Davey RA, Grossmann M. | 11/18/2017 |
| highly penetrant, novel, heterozygous ACTC1I289T mutation is associated with a family with left ventricular noncompaction. | Familial left ventricular noncompaction associated with a novel mutation in the alpha-cardiac actin gene.
Rodríguez-Serrano M, Domingo D, Igual B, Cano A, Medina P, Zorio E. | 12/3/2016 |
| We reported a case of mirror-type dextrocardia who developed HCM in adulthood exhibiting multiple genetic mutation related to sarcomere proteins | Dextrocardia and symmetric hypertrophic cardiomyopathy with multiple mutations of genes encoding the sarcomere proteins.
Fang F, Cui FM, He YM, Yang XJ, Zhao X, Xu HF, Yu CM. | 05/14/2016 |
| A heterozygous missense mutation was found (c.251T>C, p.(Met84Thr)) in the ACTC1 gene | 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.
Augière C, Mégy S, El Malti R, Boland A, El Zein L, Verrier B, Mégarbané A, Deleuze JF, Bouvagnet P., Free PMC Article | 04/16/2016 |
| The first step of hypertrophic cardiomyopathy pathogenesis with E99K is increased calcium sensitivity and decreased calcium cooperativity, which result in larger tension during partial activation to cause a diastolic problem. | The immediate effect of HCM causing actin mutants E99K and A230V on actin-Tm-myosin interaction in thin-filament reconstituted myocardium.
Bai F, Caster HM, Dawson JF, Kawai M. | 09/26/2015 |
| In this study, there was no association of the analyzed SNPs located in RASGRF1. GJD2, and ACTC1 with pathological myopia. | Evaluating the association between pathological myopia and SNPs in RASGRF1. ACTC1 and GJD2 genes at chromosome 15q14 and 15q25 in a Chinese population.
Chen CD, Yu ZQ, Chen XL, Zhou JQ, Zhou XT, Sun XH, Chu RY. | 08/8/2015 |
| In adult Hypertrophic Cardiomyopathy patients, thin-filament gene ACTC1 mutations are associated with increased likelihood of advanced Left Ventricular dysfunction and heart failure compared with thick-filament disease. | Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
Coppini R, Ho CY, Ashley E, Day S, Ferrantini C, Girolami F, Tomberli B, Bardi S, Torricelli F, Cecchi F, Mugelli A, Poggesi C, Tardiff J, Olivotto I., Free PMC Article | 03/28/2015 |
| Genetic variations at the ACTC1 gene may contribute to progression to chronic Chagas Cardiomyopathy | Polymorphism in the alpha cardiac muscle actin 1 gene is associated to susceptibility to chronic inflammatory cardiomyopathy.
Frade AF, Teixeira PC, Ianni BM, Pissetti CW, Saba B, Wang LH, Kuramoto A, Nogueira LG, Buck P, Dias F, Giniaux H, Llored A, Alves S, Schmidt A, Donadi E, Marin-Neto JA, Hirata M, Sampaio M, Fragata A, Bocchi EA, Stolf AN, Fiorelli AI, Santos RH, Rodrigues V, Pereira AC, Kalil J, Cunha-Neto E, Chevillard C., Free PMC Article | 10/18/2014 |
| Change in the ability of cMyBP-C to bind cardiac actin modified filaments might contribute to the development of disease. | Altered interactions between cardiac myosin binding protein-C and α-cardiac actin variants associated with cardiomyopathies.
Chow ML, Shaffer JF, Harris SP, Dawson JF., Free PMC Article | 07/19/2014 |
| Our results provide further evidence supporting a causative role for ACTC1 mutations in ASD. Massively parallel sequencing of the exome allows for the detection of novel rare variants causing CHD without the limitations of a candidate gene approach. | Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect.
Greenway SC, McLeod R, Hume S, Roslin NM, Alvarez N, Giuffre M, Zhan SH, Shen Y, Preuss C, Andelfinger G, FORGE Canada Consortium, Jones SJ, Gerull B. | 03/22/2014 |
| The authors demonstrate that clathrin promotes clustering of the vaccinia virus actin tail nucleator A36 and host N-WASP, which activates actin nucleation through the Arp2/3 complex. | Clathrin potentiates vaccinia-induced actin polymerization to facilitate viral spread.
Humphries AC, Dodding MP, Barry DJ, Collinson LM, Durkin CH, Way M. | 02/2/2013 |
| ACTC1 mutations Y166C and M305L are associated with hypertrophic cardiomyopathy | Functional characterization of the human α-cardiac actin mutations Y166C and M305L involved in hypertrophic cardiomyopathy.
Müller M, Mazur AJ, Behrmann E, Diensthuber RP, Radke MB, Qu Z, Littwitz C, Raunser S, Schoenenberger CA, Manstein DJ, Mannherz HG., Free PMC Article | 12/8/2012 |