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Protein destabilization underlies pathogenic missense mutations in ARID1B

12 Feb 2024

Abstract excerpt

ARID1B is a SWI/SNF subunit frequently mutated in human Coffin-Siris syndrome (CSS) and it is necessary for proliferation of ARID1A mutant cancers. While most CSS ARID1B aberrations introduce frameshifts or stop codons, the functional consequence of missense mutations found in ARID1B is unclear. We here perform saturated mutagenesis screens on ARID1B and demonstrate that protein destabilization is the main...

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Cancer Mechanisms and Therapy
Chromatin Remodeling and Cancer
interferon and immune responses

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38347147
DOI: 10.1038/s41594-024-01229-2

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