ReviewIntractable & rare diseases research2015
ARID1B-mediated disorders: Mutations and possible mechanisms.
Review in Intractable & rare diseases research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
27 citing papers in PubMed, 75 citations in OpenAlex.
- Trial
- ARID1B damaging variants from more than one million genomes, cause human diseases by impairing protein-protein interactions, stability, and regulation.bioRxiv : the preprint server for biology · 2026Article
- Genomic insights into female productivity in limousine cattle: a single-step genome-wide association on longevity, fertility, and conformation traits.BMC genomics · 2026Article
- Nonsense-mediated mRNA decay and associated splicing patterns in neurodevelopmental disorders.Frontiers in molecular biosciences · 2026Review
- The First Case Report of a Solitary Pulmonary Metastasis of a Transitional Meningioma and Literature Review.International journal of molecular sciences · 2025Review
- Identification of variants in SWI/SNF complex genes associated with neurodevelopmental disorders.Frontiers in genetics · 2025Article
- A hybrid approach for predicting transcription factors.Frontiers in bioinformatics · 2024Article
- Article
- The Impact of Mmu17 Non-Hsa21 Orthologous Genes in the Ts65Dn Mouse Model of Down Syndrome: The Gold Standard Refuted.Biological psychiatry · 2023Article
- Review
- Paraspeckles interact with SWI/SNF subunit ARID1B to regulate transcription and splicing.EMBO reports · 2023Article
- Pituitary hypoplasia and growth hormone deficiency in a patient with Coffin-Siris syndrome and severe short stature: case report and literature review.Archive of clinical cases · 2022Article
- Prenatal genetic testing in 19 fetuses with corpus callosum abnormality.Journal of clinical laboratory analysis · 2021Article
- Targeting Loss of Heterozygosity: A Novel Paradigm for Cancer Therapy.Pharmaceuticals (Basel, Switzerland) · 2021Review
- The Evolutionary Conserved SWI/SNF Subunits ARID1A and ARID1B Are Key Modulators of Pluripotency and Cell-Fate Determination.Frontiers in cell and developmental biology · 2021Review
- The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Lifespan analysis of brain development, gene expression and behavioral phenotypes in the Ts1Cje, Ts65Dn and Dp(16)1/Yey mouse models of Down syndrome.Disease models & mechanisms · 2018Article
- Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders.Frontiers in molecular neuroscience · 2018Review
- A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings.American journal of medical genetics. Part A · 2017Article
- ARID1B alterations identify aggressive tumors in neuroblastoma.Oncotarget · 2017Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the gene encoding AT-rich interactive domain-containing protein 1B (ARID1B) were recently associated with multiple syndromes characterized by developmental delay and intellectual disability, in addition to nonsyndromic intellectual disability. While the majority of ARID1B mutations identified to date are predicted to result in haploinsufficiency, the underlying pathogenic mechanisms have yet to be fully understood. ARID1B is a DNA-binding subunit of the Brahma-associated factor chromatin remodelling complexes, which play a key role in the regulation of gene activity. The function of remodelling complexes can be regulated by their subunit composition, and there is some evidence that ARID1B is a component of the neuron-specific chromatin remodelling complex. This complex is involved in the regulation of stem/progenitor cells exiting the cell cycle and differentiating into postmitotic neurons. Recent research has indicated that alterations in the cell cycle contribute to the underlying pathogenesis of syndromes associated with ARID1B haploinsufficiency in fibroblasts derived from affected individuals. This review describes studies linking ARID1B to neurodevelopmental disorders and it summarizes the function of ARID1B to provide insights into the pathogenic mechanisms underlying ARID1B-mediated disorders. In conclusion, ARID1B is likely to play a key role in neurodevelopment and reduced levels of wild-type protein compromise normal brain development. Additional studies are required to determine the mechanisms by which impaired neural development contributes to the intellectual disability and speech impairment that are consistently observed in individuals with ARID1B haploinsufficiency.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.