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
Delayed Neurological Sequelae of Carbon Monoxide Intoxication Initially Treated as Infectious Meningo Encephalitis. [PDF]
Jannot X +6 more
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
<i>KMT2B</i>-related disorders in Austria: clinical features and long-term outcome after deep brain stimulation. [PDF]
Indelicato E +9 more
europepmc +1 more source
Digital five-step questionnaire to enhance standard perioperative prophylaxis in surgical patients with reported allergy to beta-lactam-antibiotics. [PDF]
Röder D +5 more
europepmc +1 more source
Sequential gastric and ileal perforations, a rare presentation in a man with sickle cell anemia: A case report. [PDF]
Ashindoitiang JA +4 more
europepmc +1 more source
Oral Angiolymphoid Hyperplasia With Eosinophilia Exhibiting Cutaneous-Type Histopathologic Features: Clinical Regression Following Hormonal Withdrawal and a 50-Year Review. [PDF]
Jesus PVS +8 more
europepmc +1 more source

