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用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
基因功能參考文獻(xiàn):
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. PMID: 29357087
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. PMID: 28727228
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. PMID: 29620237
Data reports a recurrent de novo mutation in ACTG1 causes isolated ocular coloboma PMID: 28493397
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. PMID: 27096712
we expand the clinical spectrum of the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome demonstrating the mild end of the facial and brain manifestations. PMID: 27240540
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. PMID: 26754286
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 PMID: 26832775
Three unrelated cases of rare ACTG1 variants in fetal microlissencephaly have been described. PMID: 26188271
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 PMID: 25792668
The data, for the first time, link ASAP3 with ACTG1 in the regulation of cytoskeletal maintenance and cell motility PMID: 24284654
The actin/MKL1 signalling pathway influences cell growth and gene expression through large-scale chromatin reorganization and histone post-translational modifications. PMID: 24762104
the novel variant p.M305T in ACTG1 (DFNA20/26) was selected as a disease-causing variant. PMID: 23506231
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. PMID: 22623803
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 PMID: 21908715
Cytoplasmic G-actin concentration is a critical parameter for determining the extent of stimulus-induced G-actin assembly and cell extension. PMID: 21502360
actin participates in transcription elongation by recruiting Cdk9,a catalytic subunit of P-TEFb, for phosphorylation of the Pol II C-terminal domain, and the actin-Cdk9 interaction promotes chromatin remodeling PMID: 21378166
RNA polymerase II accumulates in the promoter-proximal region of the dihydrofolate reductase and gamma-actin genes. PMID: 12612070
the first description of a mutation in cytoskeletal, or nonmuscle, actin; with an autosomal dominant, progressive, sensorineural hearing loss phenotype PMID: 13680526
A missense mutation in the gamma actin 1 gene causes autosomal dominant hearing loss. PMID: 14684684
Our data are consistent with the idea that DP assembles into nascent junctions from both diffusible and particulate pools in a temporally overlapping series of events triggered by cell-cell contact and regulated by actin and DP-IF interactions. PMID: 16365169
Espins do not activate the Arp2/3 complex in vitro, and bundle assembly is not indicative of in-vitro nucleation activity.Our results suggest a novel way to build actin bundles at specific sites in cells. PMID: 16569662
A major factor in the deafness caused by gamma-actin mutations is an altered ability of the actin filaments to be properly regulated by actin-binding proteins rather than an inability to polymerize. PMID: 16690605
the present results do not indicate that mutations in ACTG1 are a frequent cause of autosomal-dominant postlingual sensorineural hearing impairment in Norway nor Denmark. PMID: 16773128
actin and vimentin filaments can interact directly through the tail domain of vimentin PMID: 16901892
During cell membrane blebbing actin recruitment is involved in cortex assembly. PMID: 17088428
In both AA and AL renal amyloidosis groups there were significant positive correlations between immunostaining of TGFbeta-1 and alpha-SMA. PMID: 17285762
IQGAP1 regulates Salmonella invasion through interactions with actin, Rac1, and Cdc42 PMID: 17693642
In this report we have used mutagenesis of the Talin1 I/LWEQ module to show that the amino acids responsible for dimerization are necessary for F-actin binding, stabilization and cross-linking of actin filaments, and focal adhesion targeting. PMID: 17722883
analysis of the structural basis of profilin-actin complexes during filament elongation by Ena/VASP PMID: 17914456
In this study, a novel missense mutation (c.364A>G; p.I122V) co-segregated with the affected individuals in the family and did not exist in the unaffected family members and 150 unrelated normal controls. PMID: 18804074
Both RPEL peptides of the MAL protein bind to the G-actin hydrophobic cleft and to subdomain 3. PMID: 19008859
Two novel ACTG1 missense mutations are associated with DFNA20/26 hearing impairment. PMID: 19477959
audiometric phenotype of the Dutch DFNA20/26 family with a novel mutation in ACTG1 was largely consistent with previous reports on DFNA20/26. All suffered from hearing loss.This is the first known DFNA20/26 family that has experienced tinnitus. PMID: 19548389