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.
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.
Novel p.(Ala21Val) mutation of ACTC1 causes myofibrillar and intercalated disc alteration leading to familial hypertrophic cardiomyopathy and LV myocardial noncompaction with transmural crypts.
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
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.
ACTC1 is expressed in a large subset of gliomas especially high-grade tumors. ACTC1-positive gliomas indicated poorer prognosis compared with ACTC1-negative gliomas.
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.
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.
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.
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.
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