Interpreting the effects of DNA polymerase variants at the structural level
Using MAVISp and molecular dynamics simulations, we analyzed over 60 000 missense variants in POLE and POLD1 from ClinVar, COSMIC, cBioPortal, and saturation mutagenesis. Identified mechanistic indicators, including stability, binding, and long‐range, enable structural interpretation, providing ACMG‐like evidence for possible reclassification of VUS ...
Matteo Arnaudi +7 more
wiley +1 more source
Interaction and Effect Modification in Clinical and Epidemiological Studies: Part 38 of a Series on the Evaluation of Scientific Publications. [PDF]
Kowall B, Stang A, Rathmann W.
europepmc +1 more source
Ixazomib inhibits proteasome‐mediated degradation of topoisomerase I induced by irinotecan, thereby restoring drug sensitivity and promoting tumor cell death in colorectal cancer. Irinotecan, a topoisomerase I (topoI) inhibitor, is widely used for colorectal cancer, but resistance remains a major clinical challenge.
Yuho Ebata +10 more
wiley +1 more source
Developing a Polygenic Risk Score for Weight Gain in People Treated for Psychosis-Application in a Real-World Setting. [PDF]
Heald A +7 more
europepmc +1 more source
Both cg12821679MAPRE3 methylation and MAPRE3 expression are significantly associated with overall survival (OS) of non‐small cell lung cancer. Meanwhile, MAPRE3 expression significantly modified the effect of smoking cessation on OS. Smoking cessation benefits OS merely for patients with high MAPRE3 expression.
Chao Chen +14 more
wiley +1 more source
Semantic Algorithmic Information Theory: From Kolmogorov Complexity to Semantic Equivalence. [PDF]
Wu J, Wang S, Niu K, She Y, Zhang P.
europepmc +1 more source
Radiotherapy (RT) response depends on the DNA repair capacity of tumor and host cells. We show that circulating tumor cell (CTC) counts and apoptosis rates before and after RT predict treatment response and outcome, which can be accessed via easily accessible liquid biopsy approaches. Created in BioRender. Wikman, H.
Yvonne Goy +10 more
wiley +1 more source
Neighborhood-Level Social Vulnerability, Race and Ethnicity, and Stage at Diagnosis: A Population-Based Study of 12,957 Patients with Oral Cavity Cancer. [PDF]
Tortolero GA +5 more
europepmc +1 more source
A urine‐based digital PCR assay targeting two hotspot TERT promoter variants detected bladder cancer with high sensitivity and no false positives in this case–control cohort. The streamlined AbsoluteQ workflow outperformed Sanger sequencing and supports non‐invasive molecular testing for bladder cancer detection.
Anna Nykel +12 more
wiley +1 more source
Across-breed analyses of genome-wide association studies for stature and mammary gland morphology in cattle reveal pleiotropic effects of the Friesian POLLED haplotype. [PDF]
Watson N +5 more
europepmc +1 more source

