Recombinant Human AT-rich interactive domain-containing protein 1B (ARID1B), partial

1. 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. PMID: 29864107
2. the correlation between the loss of ARID1A immunoreactivity and reduced ARID1B levels indicates that ARID1B could be an attractive target for anti-cancer therapy. PMID: 29890703
3. findings establish mutations in ARID1B as the underlying genetic defect in the HHID syndrome in two of three patients. PMID: 28323383
4. 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. PMID: 28967863
5. 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. PMID: 28521285
6. these results highlighted the significant genetic contribution of the ARID1B variant, rs73013281, to susceptibility for HCC, especially in interaction with physical activity. PMID: 28415691
7. 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 PMID: 27562491
8. 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. PMID: 28863077
9. 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 PMID: 28691782
10. 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. PMID: 27511161
11. Case Report: Melanotic Xp11 renal cell carcinoma with ARID1B-TFE3 gene fusion. PMID: 28877054
12. 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. PMID: 27570168
13. We report two teenagers with ID whose molecular diagnosis of a SMARC2A or ARID1B mutation, respectively, was established through clinical exome analysis. PMID: 27112773
14. The ARID1B gene, commonly mutated in multiple types of cancer, was identified as an additional ZNF384 gene fusion partner. PMID: 27392123
15. knockdown of the SWI/SNF component ARID1B prevents OIS and cooperates with RAS to induce liver tumors PMID: 27737960
16. 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 PMID: 26754677
17. Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. PMID: 26395437
18. ARID1B potentially serves as a valuable prognostic and predictive biomarker as well as a therapeutic target in breast cancer. PMID: 25817822
19. This study demonstrate that ARID1B is required for neuronal differentiation in the developing brain, such as in dendritic arborization and synapse formation. PMID: 26937011
20. De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature PMID: 26376624
21. Results show the crystal structure and binding site of SWI1 protein and identify loop L1 and L2 regions of SWI1 ARID likely play key roles in ARID-DNA interactions. PMID: 26223912
22. ARID1B role in genome-wide transcriptional regulation by SWI/SNF complexes. PMID: 26716708
23. This study provide the evidence ARID1B mutation releate to Autism Spectrum Disorder. PMID: 26637798
24. Chromatin-Remodeling-Factor ARID1B Represses Wnt/beta-Catenin Signaling. PMID: 26340334
25. BAF complex gene ARID1B is mutated in Coffin-Siris syndrome patients. PMID: 25081545
26. Phenotype of Coffin-Siris syndrome patients with ARID1B mutations PMID: 25169814
27. The most prominent and consistent clinical findings in patients with ARID1B haploinsufficiency are developmental delay, speech impairment and intellectual disability. PMID: 25250687
28. SMARCB1, SMARCA4, or ARID1B were mutated in 20 out of 49 Coffin-Siris syndrome patients. PMID: 23815551
29. Mutations in ARID1B gene is associated with microsatellite unstable colorectal cancer. PMID: 24382590
30. The BAF complex, including both ARID1A and ARID1B, contributes to DNA repair and cellular resistance to ionizing radiation and cisplatin. PMID: 24788099
31. Loss of ARID1B gene is associated with Waldenstrom macroglobulinemia. PMID: 24366360
32. loss of ARID1A and ARID1B alleles cooperatively promotes cancer formation but also results in a unique functional dependence PMID: 24562383
33. associations revealed between genetic polymorphisms located in the flanking region of the ARID1B genes and hypoesthesia PMID: 23834954
34. A possible tumour-suppressor function for ARID1B in pancreatic cancer. PMID: 23660946
35. ARID1B is important in human brain development and function in general, and in the development of CC and in speech development in particular. PMID: 21801163
36. Identification of recurrent somatic mutations in the chromatin-remodeling gene ARID1B in the childhood cancer neuroblastoma. PMID: 23202128
37. Haploinsufficiency of ARID1B, a member of the SWI/SNF-A chromatin-remodeling complex, is a common cause of ID. PMID: 22405089
38. these results indicate that haploinsufficiency of the ARID1B gene, which encodes an epigenetic modifier of chromatin structure, is an important cause of CSS and is potentially a common cause of intellectual disability and speech impairment. PMID: 22426309
39. For a number of genes affected by de novo copy number variants CNVs in autism (CNTNAP2, ZNF214, ARID1B, Proline Dehydrogenase), reduced transcript expression may be a mechanism of pathogenesis during neurodevelopment. PMID: 21448237
40. Cloning and characterization of hELD/OSA1, a novel BRG1 interacting protein. PMID: 11988099
41. 6A3-5 expression is associated with alpha-smooth muscle cell actin in mesangial cells, arteriolar smooth muscle cells, and interstitial myofibroblasts.could potentially be a novel early vascular marker of acute and chronic renal ischemic stress PMID: 14633620
42. Analysis of DNA-binding behaviour indicates that ARID1B binds DNA in a non-sequence-specific manner similar to ARID1A PMID: 15170388
43. The chromatin remodeling factor ARID1B had a very similar pattern of expression with an incremental increase in HPFH and decreased expression in deltabeta-thalassemia. PMID: 16952470
44. A subset of mammalian SWI/SNF complexes, specifically including the ARID1B subunit, is required for efficient cell cycle re-entry and for the association of activating factors with the c-myc promoter. PMID: 17255939

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HGNC: 18040

OMIM: 135900

KEGG: hsa:57492

STRING: 9606.ENSP00000344546

UniGene: Hs.291587