ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.100 Biomarker phenotype BEFREE These observations suggest there may be divergent mechanisms for Tpm binding to actin filaments, where conformational flexibility in mammalian Tpm allows a preorganized shape complementary to the filament surface, and where rigidity in the crustacean Tpm requires concerted bending and binding. 31390486 2020
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.100 Biomarker phenotype BEFREE From the deformation profiles, we determined key biophysical properties of tethered actin bundles such as their rigidity and filament density. 31791547 2020
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.100 Biomarker phenotype BEFREE Tks5 and Dynamin-2 enhance actin bundle rigidity in invadosomes to promote myoblast fusion. 30894403 2019
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.100 Biomarker phenotype BEFREE Regardless of the viscoelastic model applied, increasing substrate rigidity was related to an overall increase in cell stiffness and apparent viscosity (2.95 ± 1.56 kPa and 921.45 ± 102.46 Pa.s for the stiff substrate; 2.17 ± 1.30 kPa and 557.37 ± 494.11 Pa.s for the intermediate substrate), associated with an organized actin cytoskeleton. 30242964 2019
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.100 Biomarker phenotype BEFREE We will describe our strategy for the structural analyses of actin filament and actomyosin rigor complex and the biological insights we gained from these structures. 30617822 2019
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.100 Biomarker phenotype BEFREE Moreover, cortical branched actin more generally determines S-phase entry by integrating soluble stimuli such as growth factors and mechanotransduction signals, ensuing from substratum rigidity or stretching of epithelial monolayers. 30971746 2019
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.100 Biomarker phenotype BEFREE It is compatible with the actin-attached myosin heads being in a different conformation on actin, with the average centre of cross-bridge mass at a higher radius than in normal rigor and the myosin lever arms conforming less to the actin filament geometry, probably pointing back to their origins on their parent myosin filaments. 30022010 2018
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.100 Biomarker phenotype BEFREE Addition of blebbistatin to MDCK cells to reduce cortical actin rigidity resulted in a decrease in cell elongation across all curvatures while preserving the biphasic trend. 29642039 2018
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.100 Biomarker phenotype BEFREE Actin and nesprin are essential for maintaining deformed nuclei, while lamin A/C and intermediate filaments confer rigidity to the nucleus. 29756146 2018
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.100 Biomarker phenotype BEFREE Cell response to matrix rigidity has been explained by the mechanical properties of the actin-talin-integrin-fibronectin clutch. 29358406 2018
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.100 Biomarker phenotype BEFREE We also observed that the rate of binding of rigor subfragment 1 to pyrene-labeled regulated actin at saturating Ca<sup>2+</sup> was higher for the truncation mutants than for wild-type TnT. 30057009 2018
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.100 GeneticVariation phenotype BEFREE Our computational study showed that D286G impairs the flexural rigidity of actin filaments. 30564146 2018
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.100 Biomarker phenotype BEFREE We find that nuclear positional dynamics is sensitive to the cytoskeletal organization by studying the effect of actin polymerization and nuclear rigidity on the diffusive behavior of the nucleus. 28494962 2017
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.100 Biomarker phenotype BEFREE These results indicate that the same signaling molecules activated by E-cadherin rigidity sensing on PA gels contribute to actin organization and membrane dynamics during cell-cell adhesion. 28674019 2017
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.100 GeneticVariation phenotype BEFREE Superimposition of myo2-E1 and myo2-E1-Sup1 on available rigor and blebbistatin-bound myosin II structures suggests that myo2-E1-Sup1 may represent a novel actin translocation-defective allele. 28238661 2017
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.100 Biomarker phenotype BEFREE Here, we report the 8 Å resolution structure of the rigor (nucleotide-free) actin-tropomyosin-myosin complex determined by cryo-electron microscopy. 22817895 2012
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.100 Biomarker phenotype BEFREE Thus, F-actin bundling by TRIOBP provides durability and rigidity for normal mechanosensitivity of stereocilia and may contribute to resilient cytoskeletal structures elsewhere. 20510926 2010
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.100 Biomarker phenotype BEFREE The histograms of fluctuations of fluorescent actin molecules in wild-type (WT) hearts in rigor were represented by perfect Gaussian curves. 20509708 2010