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Studies indicate that The change in F-actin or G-actin (zeige ACTB Proteine) contents in a cell would translate to a number of biological endpoints such as change in cell shape, disrupted cell division, altered cell-cell adhesion, cell survival, and cell migration or motility.
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.
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
A heterozygous missense mutation was found (c.251T>C, p.(Met84Thr)) in the ACTC1 gene
In this study, there was no association of the analyzed SNPs located in RASGRF1 (zeige RASGRF1 Proteine). GJD2 (zeige GJD2 Proteine), and ACTC1 with pathological myopia.
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.
Genetic variations at the ACTC1 gene may contribute to progression to chronic Chagas Cardiomyopathy
Change in the ability of cMyBP-C to bind cardiac actin modified filaments might contribute to the development of disease.
Our results provide further evidence supporting a causative role for ACTC1 mutations in ASD (zeige ARSD Proteine). Massively parallel sequencing of the exome allows for the detection of novel rare variants causing CHD (zeige CHDH Proteine) without the limitations of a candidate gene approach.
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 (zeige ACTR2 Proteine)/3 complex.
ACTC1 mutations Y166C and M305L are associated with hypertrophic cardiomyopathy
This study provides novel insights into the complex genetic regulation of Actc1 expression in early adult skeletal muscles.
Analogous to the findings in human skeletal muscle, Actc1 expression in mouse gastrocnemius muscle increased after testosterone deprivation in orchidectomized mice compared with sham controls
ACTC E361G mutation uncouples the relationship between Ca(2+) sensitivity and troponin I phosphorylation, predisposing the heart to dilated cardiomyopathy under conditions of chronic stress.
results demonstrate that in ACTC(Co)/KO myofibres, the presence of cardiac alpha-actin instead of skeletal muscle alpha-actin alters actin conformational changes upon activation; this later finely modulates the strain of individual actomyosin interactions and overall lowers myofibre force production
Data indicate that the tri-helix bundle is important to the regulatory role of cMyBP-C, likely through actin-binding interactions.
propose that the ACTC E99K mutation causes higher myofibrillar Ca(2 (zeige CA2 Proteine)+) sensitivity that is responsible for the sudden cardiac death, apical hypertrophy, and subsequent development of heart failure in humans and mice.
Other actin isoforms cannot compensate for the lack of cardiac alpha-actin (zeige ACTA2 Proteine), and this seems to induce apoptosis in defective cardiac myocytes, which are not able to cope with the increased workload in the perinatal phase.
These results demonstrate the importance of the Emb (zeige EMB Proteine)-MEF2D (zeige MEF2D Proteine)-histone transacetylase p300 (zeige NOTCH1 Proteine) complex in the transcriptional regulation of the cardiac actin gene and suggest a potential role in chromatin remodeling associated with muscle gene activation.
there is a cardiac-specific enhancer located within -2.354/-1.36 kbp of Actc1
Tm affects the conformation of actin so as to increase the area of hydrophobic interaction between actin and myosin molecules
Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC).
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