WebDec 12, 2016 · SMARCB1 (also known as SNF5, INI1, and BAF47), a core subunit of the SWI/SNF (BAF) chromatin-remodeling complex 1,2, is inactivated in nearly all pediatric rhabdoid tumors 3,4,5.These aggressive ... WebFeb 3, 2024 · SMARCB1 germline PVs are responsible for about 40% of inherited “schwannomatosis” and 10% of apparently sporadic cases, characterized by the development of multiple indolent schwannomas [ 24 ]. Interestingly, even though these schwannomas show some rhabdoid features and loss of INI1/BAF47 staining, they are …
Schwannomatosis - GeneReviews® - NCBI Bookshelf
WebFeb 5, 2024 · Summary The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. WebGene SMARCB1 Status UniProtKB reviewed (Swiss-Prot) Organism Homo sapiens (Human) Amino acids 385 Protein existence Evidence at protein level Annotation score 5/5 Entry Feature viewer Publications External links History BLAST Align Download Community curation (1) Add a publication Entry feedback Function bulldog head outline
Human Gene SMARCB1 (ENST00000644036.2) from GENCODE V43
WebJul 4, 2024 · Interestingly, Smarcb1 transcript levels are reduced by about 30% in embryonic brain tissue of these mutant mice, whereas there is no reduction in Smarcb1 transcript … WebOct 1, 2024 · Overall, the work of Li and colleagues provides compelling evidence that SMARCB1 plays a functional role in synovial sarcomagenesis, novel insights on the reduction of cBAF subunits in synovial sarcoma, and demonstrates the relative redistribution of BAF complexes toward greater fractional abundance of PBAF and GBAF complexes. WebMar 8, 2024 · LZTR1-or SMARCB1-related schwannomatosis is caused by biallelic inactivation of at least two tumor suppressor genes. A … hair salon near palomino lane bedford nh