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We describe a 17-year old girl with X-linked chronic granulomatous disease caused by the expression of a heterozygous frameshift mutation in the CYBB gene at Xp21.1 causing a premature stop codon in exon 9 of the complementary DNA, leading to a truncated gp91phox protein due to skewed inactivation of the normal X chromosome. To our knowledge, this is the first report of a patient carrying this mutation in the CYBB gene.
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platelet aggregation resulted to be higher in patients with atrial fibrillation carrying the C2238 ANP gene variant with respect to non-carriers. In conclusions, C2238/alphaANP promotes platelet aggregation through the activation of Nox2 and the reduction of cAMP.
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These results suggest the specific involvement of Nox4 and Nox2 subunits as physiologically relevant endothelial sources of H2O2 generation that contribute to the endothelium-dependent vasodilatation of renal arteries and therefore have a protective role in kidney vasculature.
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The activity of Nox2 is lowered in neutrophils of untreated hypercholesterolemic patients. Finally oxysterols (25-hydroxy-cholesterol or 5alpha, 6alpha - epoxy-cholesterol) do not induce effects different from that of non-oxidized cholesterol.
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indicated that miR-27b exerted its protective role in retinal pigment epithelium cells under PDGF-BB stimulation was partially through regulation of Nox2
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Findings show that under elevated glucose concentration, NOX2 is activated by SMIT1 triggering ROS production in the heart.
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Human post-mortem and animal studies have identified elevated NOX2 and NOX4 levels in the injured brain, suggesting that these two NOXs are involved in the pathogenesis of Traumatic brain injury (TBI)
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To further elucidate the mAb 7D5 epitope on human gp91(phox) , chimeric DNA expressed human and mouse gp91(phox) recombinant protein were constructed. The fusion proteins were immunostained for mAb 7D5 and analyzed by FACS and western blot analysis.
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Phorbol 12-myristate-13-acetate-stimulated NOX2-NIS (NOX-specific Insertion Sequence) phosphorylation by ATM kinase causes a dynamic switch that deactivates NOX2 activity. This downregulation may be defective in NOX2-NIS3 mutant because of the absence of Ser486.
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This study identifies one novel mutation in the IL2RG gene and another, previously described mutation in the CYBB genes. It is the first report establishing a diagnosis of X-SCID and X-CGD using WES in Chinese patients.
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In a male patient suffering from X-linked chronic granulomatous disease (CGD) we found a c.389G>T mutation in exon 5 of the CYBB gene.
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The potency of RTK inhibition by BJ-1301 was lower than that of sunitinib (a multi-RTK inhibitor), but the inhibition of downstream signaling pathways (e.g., ROS generation) and subsequent biological changes (e.g., NOX2 induction) by BJ-1301 was superior
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Translated to human pathophysiology, we found increased gp91(phox) expression in endomyocardial biopsies of Alcoholic cardiomyopathy (ACM) patients. In conclusion, ACM is promoted by ACA-driven mitochondrial dysfunction and can be improved by ablation of NOX2/gp91(phox). NOX2/gp91(phox) therefore might be a potential pharmacological target to treat ACM.
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We demonstrated that small interfering RNA (siRNA)-mediated knockdown of PRR, Nox2 and Nox4 significantly reduced the HG-induced stimulation of VEGF. On the other hand, Nox4 overexpression significantly potentiated PRR-induced stimulation of VEGF under hyperglycemia in ARPE-19 cells.
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NOX2 isoform in blood samples has been considered as biomarker of disease severity and treatment efficacy in neurodegenerative disease. (Review)
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Study demonstrates that there is no increase of NOX2 expression in schizophrenic patients. Unexpectedly, however, the study found that NOX2 expression was decreased in patients with bipolar disorder.
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Hyperinsulinemia modulates arteriolar flow-induced dilation via Nox2-mediated superoxide production.
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this study shows that aging-associated metabolic disorder induces Nox2 activation and oxidative damage of endothelial function
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Results show that Nox2 knockdown attenuated HIV-1 Tat-induced HDAC6 expression and subsequent expression of chemokines. Also, the data provide evidence that HDAC6 mediates HIV-1 Tat-induced reactive oxygen species generation by regulating the activity and expression of Nox2-based NADPH oxidase in astrocytes, and demonstrate the existence of a crosstalk between HDAC6 and NADPH oxidase in HIV-1 Tat-stimulated astrocytes.
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Porphyromonas gingivalis modulates the danger signal eATP-induced NOX2 signaling and also induces host glutathione synthesis to likely avoid HOCl mediated clearance.