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first report of siblings of opposite sex harboring the same GNAO1 mutation but showing differences in phenotype with pronounced dystonia in the boy and epilepsy in his sister.
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GNAO1 transcription was inhibited by promoter hypermethylation, contributing to its low expression. It was further revealed that the silencing effect was regulated by methyltransferase 1 (DNMT1), and was further enhanced by transforming growth factor beta (TGF-beta).
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Taken together, the data presented here suggest that TLR2 activation in human mast cells promotes the release of inflammatory mediators via distinct signaling pathways that partially depend on the action of Go proteins.
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Study identified distinct biochemical mechanisms of pathogenic human GNAO1 mutations that may improve the understanding of the heterogeneous clinical spectrum of GNAO1-associated epilepsy and movement disorders. Furthermore, these results also carry significant implications for personalized therapeutics in GNAO1 encephalopathies.
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The neurological phenotypes associated with GNAO1 mutations appear to lie on a spectrum, and it is possible that the c.607G>A (p.Gly203Arg) variant characterizes a phenotype with both severe epilepsy and chorea.
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authors report 2 cases of brothers with a severe movement disorder and hypotonia without epilepsy who have been confirmed by whole exome sequencing to have a novel mutation in GNAO1
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Phenotypic spectrum of novel GNAO1 variants in four unrelated female patients included epileptic encephalopathy and involuntary movements with severe developmental delay.
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GNAO1 is a disease-causing gene for the autosomal dominant form of early infantile epileptic encephalopathy. The novel pathogenic variant identified in should contribute to our understanding of the expanding spectrum of infantile-onset epilepsy.
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Endothelial cells in capillary malformations are enriched for GNAQ mutations and are likely responsible for the pathophysiology underlying capillary malformation.
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Galphao-R243H has a mild decrease in nucleotide affinity that causes rapid nucleotide turnover and subsequent hyperactivity in cancer
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Genetic variants of BCL2, GNAO1, and CHD2 are associated with non-obstructive azoospermia risk.
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the present study is the first to demonstrate that GNAO1 is overexpressed in GC and that its overexpression correlates with poor prognosis, as it promotes gastric cancer cell viability.
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Down-regulation of GNAO1 increases cell proliferation, while suppressing the senescence of hepatocellular carcinoma cells.
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These data suggest that aberrant Galphao signaling can cause multiple neurodevelopmental phenotypes, including epileptic encephalopathy and involuntary movements.
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Data show that HEK293T cells transfected with estrogen receptor alpha (ERalpha)+/-Galpha(o) revealed that Galpha(o) stimulated phosphorylation of ERK MAP kinases ERK 1/2 and subsequently increased the phosphorylation of ERalpha on serine 118.
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Data reveal a change in the repertoire of Galpha(i/o) subunits during T cell differentiation and suggest functional equivalence among Galpha(i/o) subunits irrespective of their relative abundance.
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CKbeta8- and CKbeta8-1-induced activation of ERK1/2 is mediated by the G(i)/G(o) protein, PLC, and PKCdelta.
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a novel role in the signal transduction of thrombin receptors in HMECs (human microvascular endothelial cells) that regulates calcium signaling and cytoskeletal rearrangements
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study suggests that one of the functions of Goalpha in the brain is to mediate extracellular signal-regulated kinase activation by G protein-coupled receptors
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Activated Goalpha interacted directly with PLZF, and enhanced its function as a transcriptional and cell growth suppressor.
