The expression of fascin-1 and actinin-4 is connected with the degree of pancreatic intraepithelial neoplasia (PanIN) Advancement and depends on the type of the primary disease. Overexpression of these proteins may be linked to cytological and architectural abnormalities observed in advanced PanIN.
The surface topographic cues changed F-actin alignment and morphology of dental pulp stem cells which in turn regulated YAP signalling to control osteogenic/odontogenic differentiation
The G764S and E769K mutations increase cytoskeletal association of actinin in cells and all mutant proteins colocalize with F-actin in cultured HeLa cells.
Report identifies 11 new variants in ACTN1 gene providing significant insight into the mechanisms of ACTN1-related thrombocytopenia (ACTN1-RT) and highlights the high frequency of congenital ACTN1 variants as a cause of inherited thrombocytopenia. The rod domain in ACTN1 may harbor variants resulting in actin disorganization in vitro and thrombocytopenia with normal platelet size in most cases.
By means of next-generation sequencing two missense variants in cis in the ACTN1 gene of affected family members with familial macrothrombocytopenia were identified both of unknown significance
Recent discoveries highlight that a small but rapidly growing set of actin nucleators and related proteins i.e. factors that have the power to promote the formation of new actin filaments in cells are tightly controlled by the Ca2+ sensor protein CaM. (Review)
these results indicate that increased alpha-actinin-1 expression destabilizes E-cadherin-based adhesions which is likely to promote the migratory potential of breast cancer cells. Furthermore our results identify a-actinin-1 as a candidate prognostic biomarker in basal-like breast cancer.
During sperm capacitation the F-actin severing proteins gelsolin and cofilin are inactive and they undergo activation prior to the acrosomal exocytosis. (Review)
These results demonstrate that both actinin-1 and actinin-4 participate in the assembly of F-actin at invadopodia. Additionally actinin-4 may have a selective advantage in accelerating invadopodia-mediated invasion of carcinoma cells.
our 11 patients with macrothrombocytopenia related to ACTN1 mutation are characterized by an isolated autosomal dominant mild thrombocytopenia with low bleeding tendency.
The present study identified a de novo mutation in ACTA1 (c.350A>G; p.Asn117Ser) in a Chinese patient using targetcapture sequencing of a panel containing 125 known causal genes for inherited muscle diseases.
Several dominantly inherited congenital macrothrombocytopenia-associated mutations that are located within the actinin-1 actin-binding domain cause increased binding of actinin-1 to actin filaments and enhance filament bundling in vitro.
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