Articles tagged with Splice Variants
A research team has discovered that protein misfolding is a major cause of efficiency problems when using split inteins to produce proteins. By introducing specific mutations to the intein fragment, they were able to suppress aggregation and increase productivity.
A team of researchers has identified a mechanism that interferes with the splicing process in a more subtle way, leading to cell death. The study reveals that spliceosome subunits U4, U5, and U6 are normally stabilized by protein USP39, but when mutated or absent, stability is compromised, causing incorrect connections during splicing.
Researchers discovered that Osteopontin induces mitochondrial biogenesis in deadherent breast tumor cells, which aids metastatic success. The study suggests a possible mechanism and targets for treating cancer metastasis by increasing ATP levels and mitochondrial mass.
Researchers at St Jude Children's Research Hospital have developed a tool to comprehensively characterize oncogenic fusions in pediatric cancer cells. The tool has the potential to cure certain tumors by targeting these fusion genes with CRISPR-Cas9, selectively killing cancer cells while leaving healthy ones intact.
A new study has created a comprehensive map of the human proteome, identifying over 1 million peptides from 17,717 different protein groups. The researchers also found that most alternative splicing detected at the RNA stage is also present in the proteins, validating long-held ideas about this process.
Researchers have identified three novel pathogenic variants of the ATR gene as predisposing to male breast cancer. These variants were found in a cohort of individuals with early onset and familial breast cancers, using a combination of exome sequencing and functional investigations. The study suggests that extended genetic analysis ca...
A new study suggests that prelamin A, a precursor of lamin A, accumulates with age and may drive normal aging. Researchers propose this protein as a target for intervention strategies to extend healthspan and lifespan.
Researchers from Tokyo Medical and Dental University have developed a new approach to analyze splicing variant data to identify disease-associated genetic variations. The study reveals that analyzing the coding sequences of gene splicing variants can help uncover the genetic basis of many diseases.
Moffitt researchers have identified key splicing variants associated with clear cell renal cell carcinoma outcomes and developed a survival risk tool based on their combined expression levels. The study found that altered splicing variants may play a crucial role in disease development and progression, enabling the creation of a non-in...
Researchers discovered that aberrant splicing of CD22 mRNA leads to decreased protein expression in pediatric B-lymphoblastic leukemia cells. This results in resistance to CD22-directed immunotherapies, making it challenging for oncologists to identify patients who may not respond to these treatments.
Researchers have discovered a huge diversity of alternative splicing combinations in the human brain, allowing for adaptation to specific requirements. New glutamate receptor variants, some with potential new functions, were identified using bioinformatic methods.
A study reveals that alternative splicing controls the identity and function of nerve cells, allowing for a complex neuronal network with limited genes. The research team mapped splice variants in different types of neurons, identifying unique repertoires that shape their characteristics.
A new approach has been devised to map the transcriptome, revealing RNA variants that were largely invisible to previous techniques. The study identified complex splice variants in mammals, which are strikingly common and likely have roles in gene regulation across tissues and human diseases.
Researchers developed a technique to target and quantify breast cancer segments in a single cell using gold nanoparticles tagged with synthetic DNA. The method measures the unique signal produced when light interacts with the nanoparticles, allowing for accurate diagnosis and potential personalized treatment options.
Scientists at North Carolina State University discovered a novel protein controller that regulates gene expression in tree cells during wood formation. The controller protein prevents abnormal growth and promotes healthy wood formation by suppressing the expression of certain genes.
Researchers have identified a small noncoding RNA that promotes the production of an alternative splice variant of KCNIP4, leading to neurodegeneration and potential disruption in beta-amyloid processing. Elevated levels of this RNA were found in brain cells from Alzheimer's disease patients.