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Baraitser-Winter cerebrofrontofacial syndrome is caused by missense mutations in the cytoplasmic beta- and gamma-actin genes ACTB (zeige ACTB Proteine) 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 (zeige ACTB Proteine) cause a distinctly more severe phenotype than ACTG1 mutations in Baraitser-Winter syndrome.
The data, for the first time, link ASAP3 (zeige ASAP3 Proteine) 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.
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.
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
These data support an essential role for beta-actin (zeige ACTB Proteine) in regulating cell migration and gene expression through control of the cellular G-actin (zeige ACTB Proteine) pool
Results demonstrate overlapping developmental roles but unique post-developmental functions for beta-actin (zeige ACTB Proteine) 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 (zeige ACTN1 Proteine), 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.
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