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A novel actin gamma 1 (ACTG1) de novo mutation is identified in two sporadic, juvenile, Chinese non-syndromic hearing loss (NSHL) cases using targeted high-throughput sequencing.
Results identified ACTG1 with significant high expression in skin cancer tissue and suggested that ACTG1 can regulate the cell proliferation and migration through ROCK signaling pathway.
a novel heterozygous missense mutation P32S in the ACTG1 gene was identified in a small family with autosomal dominant nonsyndromic hearing loss. The present findings expand our understanding of the phenotypes associated with ACTG1. Specifically, the results of the present study emphasized that mutations in ACTG1 result in a diverse spectrum of onset ages, including congenital in addition to post-lingual onset.
Data reports a recurrent de novo mutation in ACTG1 causes isolated ocular coloboma
Baraitser-Winter cerebrofrontofacial syndrome is caused by missense mutations in the cytoplasmic beta- and gamma-actin genes ACTB and ACTG1. We provide an overview of the clinical characteristics (including some novel findings in four recently diagnosed patients), diagnosis, management, mutation spectrum and genetic counselling.
We have identified a three-generation pedigree segregating a novel mutation in the ACTG1 gene that causes Baraitser-Winter Syndrome with extremely variable expressivity, leading to an initial diagnosis of isolated AD hearing loss in two members.
we expand the clinical spectrum of the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome demonstrating the mild end of the facial and brain manifestations.
Data indicate that F-actin is significantly elevated in septic shock, and F-actin and the F:G-actin ratio are potential biomarkers for the diagnosis of septic shock.
a novel mutation in ACTG1 was found to be co-segregated with hearing loss and the genetic cause of autosomal dominant nonsyndromic hearing impairment in a Chinese family
Three unrelated cases of rare ACTG1 variants in fetal microlissencephaly have been described.
In this study we sought to clarify the detailed mutational spectrum, clinical features, and genotype-phenotype correlations for ACTG1 gene associated autosomal dominant sensorineural hearing loss
Mutations in ACTB cause a distinctly more severe phenotype than ACTG1 mutations in Baraitser-Winter syndrome.
The data, for the first time, link ASAP3 with ACTG1 in the regulation of cytoskeletal maintenance and cell motility
The actin/MKL1 signalling pathway influences cell growth and gene expression through large-scale chromatin reorganization and histone post-translational modifications.
the novel variant p.M305T in ACTG1 (DFNA20/26) was selected as a disease-causing variant.
Data indicate beta-cytoplasmic (beta-CYA) and gamma-cytoplasmic (gamma-CYA) actins differential localization and dynamics at epithelial junctions.
These results showed the biphasic F-actin dynamics in herpes simplex virus 1 neuronal infection and confirmed the association of F-actin with the changes in the expression and activity of cofilin 1.
identified de novo missense changes in the cytoplasmic actin-encoding genes ACTB and ACTG1 in one and two probands, respectively; suggest that Baraitser-Winter syndrome is the predominant phenotype associated with mutation of these two genes
knockdown of gamma-actin significantly reduced speed of motility and severely affected the cell's ability to explore, which was, in part, due to a loss of cell polarity
Cytoplasmic G-actin concentration is a critical parameter for determining the extent of stimulus-induced G-actin assembly and cell extension.
Data show that the level of actin/PLC-zeta interaction was twice as high in G-actin that reflected an increase in affinity.
Data indicate that the complex formation of actin by thymosin beta4 is more likely to be flexible than rigid and is localized along the subdomains 1 to 3 of actin.
Data, including data from studies using knockout mice, suggest that Actb and Actg1 are enriched in isolated membrane preparations from skeletal muscle which represent interface between mitochondria and sarco-endoplasmic reticulum; these structures appear to be important in signaling, mitochondrial dynamics, and muscle relaxation. (Actb = beta actin cytoplasmic 1; Actg1 = actin gamma cytoplasmic 1)
Two actin isoforms, beta- and gamma-actin, are crucial for slow, rapid, bulk, and overshoot endocytosis at large calyx-type synapses, and for slow endocytosis and bulk endocytosis at small hippocampal synapses.
Splicing to include exon 3a is concomitant with previously described down-regulation of Actg1 in differentiating C2C12 cells
Beta- and gamma-cytoplasmic actins are required for meiosis in mouse oocytes.
These data support an essential role for beta-actin in regulating cell migration and gene expression through control of the cellular G-actin pool
Results demonstrate overlapping developmental roles but unique post-developmental functions for beta-actin and gamma-actin in maintaining hair cell stereocilia.
Since the total amount of actin protein was maintained in Actg1(-/-) cells, our data suggests a distinct requirement for gamma(cyto)-actin in cell growth and survival.
arginylated gamma-actin, unlike beta-, was highly unstable and selectively ubiquitinated and degraded in vivo; instability was regulated by differences in nucleotide coding sequence between the actin isoforms, which conferred different translation rates
Eplin-alpha transcription is regulated by actin-MAL-SRF signalling.
Organisation of non-muscle gamma-actin and co-localisation with sarcomeric alpha-actinin, a marker of sarcomere assembly and a major component of Z lines, was noted. Gamma-Actin was also found in young myotubes with developing sarcomeric myofibrils.
Our data demonstrate an important role for minimally abundant but strategically localized gamma(cyto)-actin in adult skeletal muscle and describe a new mouse model to study the in vivo relevance of subcellular actin isoform sorting.
G-actin regulates rapid induction of actin nucleation by mDia1 to restore cellular actin polymers.
Study uncovers a strong reciprocal interdependence between Nck and PI(4,5)P(2) in promoting localized N-WASp-mediated actin polymerization in cells.
Actins are highly conserved proteins that are involved in various types of cell motility, and maintenance of the cytoskeleton. In vertebrates, three main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton, and as mediators of internal cell motility. Actin, gamma 1, encoded by this gene, is a cytoplasmic actin found in non-muscle cells. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss. Alternative splicing results in multiple transcript variants.
actin, cytoplasmic 2
, cytoskeletal gamma-actin
, actin, gamma 1
, actin, alpha 1, skeletal muscle
, actin, cytoplasmic 2 a
, actin, gamma, cytoplasmic 1
, actin, cytoplasmic type 5
, actin, gamma 1 b
, beta-actin FE-3
, actin, cytoplasmic, type 5
, actin, gamma 1 propeptide
, cytoplasmic 2
, cytoplasmic type 5
, gamma 1 propeptide
, type 5
, actin, cytoplasmic 2-like
, cytoplasmic actin