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ARID2 is a subunit of the PBAF chromatin-remodeling complex (see BAF180\; MIM 606083), which facilitates ligand-dependent transcriptional activation by nuclear receptors (Yan et al., 2005 [PubMed 15985610]).[supplied by OMIM, Mar 2008]..
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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.
These findings highlight the potential role of ARID2 as a tumor growth suppressor in hepatocellular carcinoma
ARID2 knockout could contribute to disruption of DNA repair process.
study identifies mutations in the ARID2 gene as a novel and rare cause for a CSS (显示 CMAS 抗体)-like phenotype and enlarges the list of CSS (显示 CMAS 抗体)-like genes
Baf200 and Rad51 (显示 RAD51 抗体) are present in the same complex and that this interaction is mediated by C-terminal sequences in both proteins.
Results show that ARID2 is a direct target of miR155 in human hepatocellular carcinoma (HCC (显示 FAM126A 抗体)). Alterations of ARID2 expression abrogated the effects of miR155 on HCC (显示 FAM126A 抗体) cell proliferation, cell cycle and apoptosis.
This is the first report of mutations in ARID2 associated with developmental delay and intellectual disabilities .
Arid2 role in genome-wide transcriptional regulation by SWI (显示 SMARCA1 抗体)/SNF (显示 SNRPA 抗体) complexes.
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.
loss of ARID2 protein expression may be associated with recurrence of hepatocellular carcinoma
a critical role for ARID2-containing complexes in promoting osteoblast differentiation and supports a view that the PBAF subset of SWI (显示 SMARCA1 抗体)/SNF (显示 SNRPA 抗体) contributes importantly to maintaining cellular identity and activating tissue-specific gene expression.
zipzap may serve as a transcription co-activator for the regulation of cardiac gene expression
ARID2 is a subunit of the PBAF chromatin-remodeling complex (see BAF180\; MIM 606083), which facilitates ligand-dependent transcriptional activation by nuclear receptors (Yan et al., 2005
AT rich interactive domain 2 (ARID, RFX-like)
, AT-rich interactive domain-containing protein 2
, AT-rich interactive domain-containing protein 2-like
, ARID domain-containing protein 2
, BRG1-associated factor 200
, zinc finger protein with activation potential
, AT rich interactive domain 2 (Arid-rfx like)