|
Carcinoma
|
0.390 |
AlteredExpression
|
group |
BEFREE |
The reverse transcription-polymerase chain reaction technique was applied, and with beta-actin as internal standard, TGF-alpha and EGFR mRNA in laryngeal carcinomas, macroscopically normal laryngeal mucosas adjacent to the tumor and in vocal cord polyps were quantitatively examined.
|
11721445 |
1999 |
|
Carcinoma
|
0.390 |
Biomarker
|
group |
BEFREE |
All examined chromosomal regions contain genes known that regulate the actin cytoskeleton, with several (PI3-kinase alpha, focal adhesion kinase (FAK) and cortactin) known to promote invasion in HNSCC and other carcinomas.
|
18324357 |
2008 |
|
Carcinoma
|
0.390 |
Biomarker
|
group |
BEFREE |
We conclude that non-muscle actin isoforms should not be considered as merely housekeeping proteins and the β/γ-actins ratio can be used as an oncogenic marker at least for lung and colon carcinomas.
|
26008973 |
2015 |
|
Carcinoma
|
0.390 |
AlteredExpression
|
group |
BEFREE |
In all carcinomas containing HPV 16 DNA and showing beta-actin mRNA signals (n = 13), clear E7 ORF transcription could be found.
|
1719818 |
1991 |
|
Carcinoma
|
0.390 |
Biomarker
|
group |
BEFREE |
A mouse tumor angiogenesis model revealed enhanced PKD-1 signaling and expression of ephrin B2 and smooth muscle actin in neovessels of Lewis Lung Carcinomas, along with low-CD36 expression or CD36 deficiency.
|
27013613 |
2016 |
|
Carcinoma
|
0.390 |
AlteredExpression
|
group |
BEFREE |
Immunohistochemical analyses of human carcinomas have consistently correlated up-regulation of the actin-bundling protein fascin with a clinically aggressive phenotype and poor prognosis.
|
17855511 |
2007 |
|
Carcinoma
|
0.390 |
AlteredExpression
|
group |
BEFREE |
Thymosin beta-4 (Tbeta-4) is the major actin-sequestering protein that has been shown to be upregulated in a wide variety of human carcinomas and has been implicated to be involved in altering the motility of certain tumors.
|
15235586 |
2004 |
|
Carcinoma
|
0.390 |
AlteredExpression
|
group |
BEFREE |
Comparison of R00504 levels in normal epithelium and invasive carcinoma, using beta-actin as an internal control, showed the transcript to be substantially overexpressed in 5 of 10 carcinomas.
|
9255310 |
1997 |
|
Carcinoma
|
0.390 |
AlteredExpression
|
group |
BEFREE |
Metastatic carcinomas had a significant up-regulation of genes associated with cell cycle regulation, matrix modulation, protein folding and proteasomal degradation whereas cell differentiation genes, growth factor pathway genes and regulators of actin organization were significantly down-regulated.
|
21062462 |
2010 |
|
Carcinoma
|
0.390 |
Biomarker
|
group |
CTD_human |
Global gene expression profiling of chemically induced rat mammary gland carcinomas and adenomas.
|
16316942 |
2005 |
|
Blood Platelet Disorders
|
0.310 |
Biomarker
|
group |
BEFREE |
Consequently, defects in proteins controlling actin dynamics have been associated with platelet disorders in humans and mice.
|
28743718 |
2017 |
|
Blood Platelet Disorders
|
0.310 |
Biomarker
|
group |
GENOMICS_ENGLAND |
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
|
22366783 |
2012 |
|
Esophageal Neoplasms
|
0.310 |
Biomarker
|
group |
BEFREE |
Expression of basic fibroblast growth factor, CD31, and α-smooth muscle actin and esophageal cancer recurrence after definitive chemoradiation.
|
24777337 |
2014 |
|
Esophageal Neoplasms
|
0.310 |
Biomarker
|
group |
CTD_human |
Comparative proteomic analysis of esophageal squamous cell carcinoma.
|
15986332 |
2005 |
|
Lung Neoplasms
|
0.310 |
Biomarker
|
group |
CTD_human |
Proteomic analysis of differentially expressed proteins in lung cancer in Wistar rats using NNK as an inducer.
|
23692979 |
2013 |
|
Lung Neoplasms
|
0.310 |
AlteredExpression
|
group |
BEFREE |
Afterwards, a panel of eight genes known to be expressed in lung tumors was used for the detection of tumor-associated mRNA expression in lavage supernatant and serum. mRNA coding for beta-actin could be isolated from lavage supernatant of all 25 patients.
|
15251953 |
2004 |
|
Craniofacial Abnormalities
|
0.300 |
Biomarker
|
group |
CTD_human |
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
|
22366783 |
2012 |
|
Congenital neurologic anomalies
|
0.300 |
Biomarker
|
group |
CTD_human |
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
|
22366783 |
2012 |
|
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
(Asn479Ile)] in PHACTR1, encoding a molecule critical for the regulation of protein phosphatase 1 (PP1) and the actin cytoskeleton, in unrelated Japanese individuals with West syndrome (infantile spasms with intellectual disability).
|
30256902 |
2018 |
|
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In conclusion, we show that heterozygous loss-of-function ACTB mutations cause a distinct pleiotropic malformation syndrome with intellectual disability.
|
29220674 |
2017 |
|
Intellectual Disability
|
0.200 |
AlteredExpression
|
group |
BEFREE |
SrGAP3-mediated reorganisation of the actin cytoskeleton is crucial for the normal development of dendritic spines and loss of srGAP3 leads to abnormal synaptic activity and impaired cognitive behaviours in mice, which is reminiscent of an association between disrupted srGAP3 and intellectual disability in humans.
|
23127797 |
2013 |
|
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We report here a variant of nonmuscle actin in a female patient with recurrent infections, photosensitivity, and mental retardation.
|
10411937 |
1999 |
|
Intellectual Disability
|
0.200 |
Biomarker
|
group |
BEFREE |
Thus, FMN2 mutations link intellectual disability either directly or indirectly to the regulation of actin-mediated synaptic spine density.
|
25480035 |
2014 |
|
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Several genes influencing the actin cytoskeleton have been implicated in human cognitive function and thus a possibility exists that the rare mutations in the DOCK8 gene may contribute to some cases of autosomal dominant mental retardation.
|
18060736 |
2008 |
|
Intellectual Disability
|
0.200 |
GeneticVariation
|
group |
BEFREE |
ACTB and ACTG1 mutations have recently been reported to cause Baraitser-Winter syndrome (BRWS) - a rare condition characterized by ptosis, colobomata, neuronal migration disorder, distinct facial anomalies and intellectual disability.
|
23756437 |
2014 |