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RNA-binding proteins (often abbreviated as RBPs) ... (CNV), for example CNV gains of BYSL in colorectal cancer cells [19] and ESRP1, CELF3 in breast cancer, ...
Recent discoveries implicating RNA in the pathogenesis of several forms of cancer and neuromuscular diseases have created a paradigm shift in drug discovery.This work combined with advances in structural characterization techniques such as NMR spectroscopy, X-ray crystallography, Cryogenic electron microscopy [1] together with computational modeling, [2] has pushed forward the realization that ...
In human cancer cell lines derived from various tumor types, a high frequency of genetic and epigenetic alterations (e.g., promoter hyper-methylation, homozygous deletion or mutation) in the CDKN2A gene has been observed. Accordingly, epigenetic/genetic modulation of changes in CDKN2A might be a promising strategy for prevention or therapy of ...
FUS/TLS was initially identified as a fusion protein (FUS-CHOP) produced as a result of chromosomal translocations in human cancers, especially liposarcomas. [6] [9] In these instances, the promoter and N-terminal part of FUS/TLS is translocated to the C-terminal domain of various DNA-binding transcription factors (e.g. CHOP) conferring a strong transcriptional activation domain onto the ...
The protein was suspected to be involved in carcinogenesis due to the observation that mutation or deletion in the gene was implicated in human cancer cell lines. The detection of p16 inactivation in familial melanoma supplied further evidence. p16 deletion, mutation, hypermethylation, or overexpression is now associated with various cancers.
Since most mature RNA is exported from the nucleus relatively quickly, most RNA-binding protein in the nucleus exist as heterogeneous ribonucleoprotein particles. After splicing has occurred, the proteins remain bound to spliced introns and target them for degradation.
Tumor suppressor p53-binding protein 1 also known as p53-binding protein 1 or 53BP1 is a protein that in humans is encoded by the TP53BP1 gene. [ 5 ] [ 6 ] [ 7 ] Clinical significance
100043257 Ensembl ENSG00000102317 n/a UniProt P98179 n/a RefSeq (mRNA) NM_001017430 NM_001017431 NM_006743 XM_036156140 RefSeq (protein) NP_006734 n/a Location (UCSC) Chr X: 48.57 – 48.58 Mb n/a PubMed search Wikidata View/Edit Human View/Edit Mouse Putative RNA-binding protein 3 is a protein that in humans is encoded by the RBM3 gene. Function This gene is a member of the glycine -rich RNA ...