Summary: A component of the SWI-SNF CHROMATIN REMODELING complex that functions as a PROTEIN PHOSPHATASE 1 regulator and to stabilize CHROMATIN at PROMOTER REGIONS. It is important for regulating CELL PROLIFERATION and CELL DIFFERENTIATION. Mutations in the SMARCB1 gene are associated with malignant RHABDOID TUMORS.
Roberts C, Biegel J. The role of SMARCB1/INI1 in development of rhabdoid tumor. Cancer Biol Ther. 2009;8:412-6 pubmed
Bertola D, Pereira A, Brasil A, Suzuki L, Leite C, Falzoni R, et al
. Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship?. Clin Genet. 2012;81:595-7 pubmed publisher
Rekhi B, Kosemehmetoglu K, Tezel G, Dervisoglu S. Clinicopathologic features and immunohistochemical spectrum of 11 cases of epithelioid malignant peripheral nerve sheath tumors, including INI1/SMARCB1 results and BRAF V600E analysis. APMIS. 2017;125:679-689 pubmed publisher
..Most tumors are treated by surgical resection. Loss of INI1 and the presence of BRAF V600E mutation in some cases raises future possibility of exploring targeted therapy in those, rare epithelioid MPNSTs. ..
He L, Chen Y, Feng J, Sun W, Li S, Ou M, et al
. Cellular senescence regulated by SWI/SNF complex subunits through p53/p21 and p16/pRB pathway. Int J Biochem Cell Biol. 2017;90:29-37 pubmed publisher
..These results indicated that BAF57, BAF60a and SNF5 might act as novel pro-senescence factors in both normal and tumor human skin cells. Therefore, inhibiting expression of the three factors might delay the cellular senescence process. ..
Schweizer Y, Mészáros Z, Jones D, Koelsche C, Boudalil M, Fiesel P, et al
. Molecular Transition of an Adult Low-Grade Brain Tumor to an Atypical Teratoid/Rhabdoid Tumor Over a Time-Course of 14 Years. J Neuropathol Exp Neurol. 2017;76:655-664 pubmed publisher
Weichenhan D, Plass C. The evolving epigenome. Hum Mol Genet. 2013;22:R1-6 pubmed publisher
..Finally, we will highlight some of the novel technologies that have recently emerged in the field and will help in the profiling of disease genomes by allowing the use of small cell numbers and a higher resolution. ..
Kosho T, Miyake N, Carey J. Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing. Am J Med Genet C Semin Med Genet. 2014;166C:241-51 pubmed publisher
..Ongoing research is required to reveal the whole picture of the BAF complex in human development, and will lead to the development of new targeted therapies for related disorders in the future. ..
Genovese G, Carugo A, TEPPER J, Robinson F, Li L, Svelto M, et al
. Synthetic vulnerabilities of mesenchymal subpopulations in pancreatic cancer. Nature. 2017;542:362-366 pubmed publisher
..These molecular and biological insights inform a potential therapeutic strategy for targeting aggressive mesenchymal features of PDAC. ..
Yan L, Xie S, Du Y, Qian C. Structural Insights into BAF47 and BAF155 Complex Formation. J Mol Biol. 2017;429:1650-1660 pubmed publisher
..Overall, we demonstrated that BAF155 SWIRM is a modular domain involved in BAF47 interaction, which is functionally distinct from other characterized SWIRM domains that possess DNA binding activity. ..