-
fetus with intestinal pseudo-obstruction heterozygous for p.R63G pathogenic variant (NM_001615.3 c.187C>G; rs864309491) in exon 3
-
Whole exome and Sanger sequencing revealed a pathogenic variant in the ACTG2 gene in 4 out of 28 probands with chronic intestinal pseudo-obstruction and megacystis. Moreover, a mutational hotspot in the ACTG2 gene was recognized. Genetic heterogeneity is evident.
-
R257 variant in the ACTG2 appear to be more frequent in populations of Asian ancestry; mutation of this locus could cause alterations of the intestinal and bladder smooth muscle filaments.
-
ACTG2 boosts the metastatic potential of hepatocellular carcinoma in a Notch1-dependent manner.
-
Missense variants in ACTG2 were identified in the patients with either megacystis-microcolon-intestinal hypoperistalsis syndrome or intestinal pseudo-obstruction.
-
A heterozygous missense variant in ACTG2 was identified that impaired actin polymerization in sporadic Megacystis microcolon intestinal hypoperistalsis syndrome.
-
ACTG2 is expressed in a fraction of small intestinal neuroendocrine tumors, can inhibit cell growth in vitro, and is positively regulated by miR-145.
-
Mutations within ACTG2 are associated with fetal megacystis in microcolon intestinal hypoperistalsis syndrome.
-
Phenotypic spectrum of ACTG2 missense variants involved severe pathology in multiple smooth muscle-dependent organs including the biliary tract and the uterus in the family with visceral myopathy.
-
gammaSMA expression in hepatocellular carcinoma is strongly correlated with the EMT process, HCC aggressiveness and the identification of cancer stem cells
-
ACTG2 encodes g2 enteric actin and is the first gene to be clearly associated with Megacystis-microcolon-intestinal hypoperistalsis syndrome, suggesting an important role for contractile proteins in enteric smooth muscle disease.
-
Two novel mutations in the ACTG2 gene, p.R178L and p.R178C, have been identified in two unrelated children with congenital distended bladder, microcolon, and intestinal hypoperistalsis (MMIHS).
-
The R148S variant in ACTG2 as a cause of autosomal dominant familial visceral myopathy in one family.
-
NOX4 and ROS have a role in myofibroblast differentiation and collagen and alpha-actin production of TGF- beta1-induced nasal polyp-derived fibroblasts.
-
SMGA gene activity in prostate epithelia is due, in part, to the androgen-dependent expression of Nkx 3.1
-
RNA polymerase II accumulates in the promoter-proximal region of the dihydrofolate reductase and gamma-actin genes.
-
It was suggested that peritubular alphaSMA-positive myofibroblastic cells, in collaboration with interstitial macrophages, contribute to the progression of interstitial fibrosis in diabetic nephropathy.
-
TNF-alpha suppresses TGF-beta1-induced myofibroblast (fibroproliferative) phenotypic genes, for example, alpha-SMA, collagen type 1A, and fibronectin at the mRNA level.
-
The insertion-deletion polymorphism in intron 1 of the gamma 2 actin gene is unlikely to play any significant role in obstetric cholestasis or preeclampsia in patients from eastern Finland.
-
MYOCD can discriminate among several juxtaposed CArG elements, presumably through its novel partnership with NKX3.1, to optimally transactivate the human ACTG2 promoter
