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Mutations in or involving the ARID2 gene were identified in the patients with the features resembling Coffin-Siris syndrome.
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We present a 4-year-old girl with delayed neuromotor development, short stature of prenatal onset, and specific behavioral and craniofacial features harboring an intragenic deletion in the ARID2 gene. The phenotype confirmed the major features of the recently described ARID2-related intellectual disability syndrome.
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These findings highlight the potential role of ARID2 as a tumor growth suppressor in hepatocellular carcinoma
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ARID2 knockout could contribute to disruption of DNA repair process.
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study identifies mutations in the ARID2 gene as a novel and rare cause for a CSS-like phenotype and enlarges the list of CSS-like genes
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Baf200 and Rad51 are present in the same complex and that this interaction is mediated by C-terminal sequences in both proteins.
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Results show that ARID2 is a direct target of miR155 in human hepatocellular carcinoma (HCC). Alterations of ARID2 expression abrogated the effects of miR155 on HCC cell proliferation, cell cycle and apoptosis.
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This is the first report of mutations in ARID2 associated with developmental delay and intellectual disabilities .
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Arid2 role in genome-wide transcriptional regulation by SWI/SNF complexes.
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The subsequent validation study on 68 LCBs identified recurrent mutations in TERT promoter, chromatin regulators (BAP1, PBRM1 and ARID2), a synapse organization gene (PCLO), IDH genes and KRAS.
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loss of ARID2 protein expression may be associated with recurrence of hepatocellular carcinoma
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Mutations in ARID2 gene is associated with microsatellite unstable colorectal cancer.
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Recurrent inactivating mutations of ARID2 is associated with non-small cell lung carcinoma.
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we summarize the current knowledge about the relevance of ARID2 in Hepatocellular carcinoma and the implication in future patient care
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18.2% of individuals with HCV-associated HCC in the United States and Europe harbored ARID2 inactivation mutations, suggesting that ARID2 is a tumor suppressor gene that is relatively commonly mutated in this tumor subtype.
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zipzap may serve as a transcription co-activator for the regulation of cardiac gene expression
