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Study has highlighted that miR-486-3p expression is increased in serum of patients with autism and supports that miR-486-3p inhibits the expression of ARID1B.
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We report on a 4-year-old male child who was found to be heterozygous for ARID1B de novo pathogenic NM_020732.3:c.3323_3324delAA; p.(Lys1108Argfs) mutation. The coding region (+/-5 bp) of the SWI/SNF complex genes showed a de novo heterozygous sequence change in the ARID1B gene: NM_020732.3:c.3323_3324delAA; p.(Lys1108Argfs). The variant was confirmed by Sanger sequencing and was not detected in the parental samples.
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the correlation between the loss of ARID1A immunoreactivity and reduced ARID1B levels indicates that ARID1B could be an attractive target for anti-cancer therapy.
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findings establish mutations in ARID1B as the underlying genetic defect in the HHID syndrome in two of three patients.
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The authors find that ARID1A has a dominant role in maintaining chromatin accessibility at enhancers, while the contribution of ARID1B is evident only in the context of ARID1A mutation.
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we identified a subgroup of neuroblastoma with ARID1B mutation shows an aggressive behavior. These findings may provide a new biomarker to identify another subgroup of neuroblastoma with high-risk features.
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these results highlighted the significant genetic contribution of the ARID1B variant, rs73013281, to susceptibility for HCC, especially in interaction with physical activity.
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we identified concurrent ARID1A and ARID1B inactivating mutations with consequent loss of protein expression in the undifferentiated component of approximately one-quarter of dedifferentiated endometrial and ovarian carcinomas
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Of the 34 undifferentiated endometrial carcinomas examined, 17 (50%) exhibited SWI/SNF complex inactivation, with 11 tumors showing complete loss of both ARID1A and ARID1B, 5 showing complete loss of BRG1 and 1 showing complete loss of INI1. Ten of the remaining 17 undifferentiated carcinomas showed the following alterations: 5 tumors (15%) showed loss of ARID1A only with intact ARID1B, BRG1, and INI1 expression.
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We report here the clinical, genetic, and proteomic phenotypes of an individual with a unique apparent de novo mutation of ARID1B due to an intragenic duplication
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HSCR was observed in a patient with a truncating mutation in ARID1B, further expanding the phenotypic spectrum of Coffin-Siris syndrome. This suggests that the BAF complex does not only play a role in the enteric system of Drosophila, but also in humans.
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Case Report: Melanotic Xp11 renal cell carcinoma with ARID1B-TFE3 gene fusion.
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The clinical features of both patients are felt to be consistent with an ARID1B-related disorder. To our knowledge, this is the first report of a pathogenic mutation in ARID1B being passed from an affected parent to their offspring.
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We report two teenagers with ID whose molecular diagnosis of a SMARC2A or ARID1B mutation, respectively, was established through clinical exome analysis.
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The ARID1B gene, commonly mutated in multiple types of cancer, was identified as an additional ZNF384 gene fusion partner.
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knockdown of the SWI/SNF component ARID1B prevents OIS and cooperates with RAS to induce liver tumors
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Chromosome analysis by array-CGH revealed a small interstitial 6q deletion spanning approximately 1.1 Mb of DNA and containing only one coding gene, ARID1B. We suggest that ARID1B is the key gene behind 6q microdeletion syndrome, and we discuss its possible role in the phenotypic manifestations
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Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.
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ARID1B potentially serves as a valuable prognostic and predictive biomarker as well as a therapeutic target in breast cancer.
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This study demonstrate that ARID1B is required for neuronal differentiation in the developing brain, such as in dendritic arborization and synapse formation.
