In mantle cell lymphoma (MCL), an aggressive form of B-cell non-Hodgkin lymphoma, TP53 mutations are known to affect patients’ prognosis—but questions remain. What does the heterogeneity of TP53 ...
Relationship Among DNA Damage Response Gene Alterations, Molecular Subtypes, and Survival Outcomes in Patients With Metastatic Bladder Cancer Treated on CALGB 90601 Sequencing data from 56,965 ...
A comprehensive analysis of over 500,000 human protein variants reveals that 60% of disease-causing missense mutations reduce protein stability In a recent study published in Nature, researchers used ...
“Most diagnosed SYNGAP1-Related Disorder (SRD) patients have protein truncating variants (PTV) as opposed to missense variants. Virtually all PTVs are assumed to have the same impact at the molecular ...
Missense mutations influence protein abundance in prostate cancer. Using a SILAC-based quantitative proteomics approach, we identified significant proteomic differences between healthy and tumor ...
Most mutations that cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a major study of human protein variants that was published in Nature ...
A study headed by researchers at the Centre for Genomic Regulation (CRG) in Barcelona has provided for the first time evidence that a single drug, already licensed for medical use, can stabilize ...
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