Results 31 to 40 of about 2,755,565 (302)
Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma
The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic +5 more
wiley +1 more source
EXOSC10, an essential nuclear RNA exosome‐associated 3′‐5′ exoribonuclease, is inhibited by the anticancer drug 5‐fluorouracil (5‐FU), and EXOSC10 depletion increases 5‐FU sensitivity. The colon‐cancer variant EXOSC10S402T, located in a proteolysis motif, is stable and nuclear but nonfunctional in vivo.
Radhika Sain +10 more
wiley +1 more source
A catalogue of butterflies (Lepidoptera, Rhopalocera) of Azerbaijan
An annotated list of butterflies from Azerbaijan, containing 280 species, is presented. The classification and nomenclature in this work are accepted according to the key of Korb & Bolshakov (2016).
N.Y. Snegovaya, V.A. Petrov
doaj +1 more source
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
A catalogue quality audit tool [PDF]
The current need for performance measurement and quality targets for services to users requires suitable performance indicators for libraries to use.
Massey, Owen +3 more
core
[english] In order to provide users fast access to the order- and account functions of the “Medicine. Health.” catalogue, the German National Library of Medicine has completely integrated these functions into the search portal MEDPILOT.
Hinnenthal, Kendra +2 more
doaj +1 more source
We identify USP29 as the only DUB mirroring CA9 expression, a marker of hypoxia and HIF pathway activation associated with PCA aggressiveness. USP29 stabilizes HIF‐1α and HIF‐2α via a noncanonical mechanism that is independent of PHD/pVHL activity yet relies on proteasomal regulation, establishing USP29 as a previously unrecognized regulator of hypoxic
Amelie S Schober +16 more
wiley +1 more source
A catalogue of software tools for digital scholarly editing
In the field of digital philology a large number of software tools has been developed through the years and keeps being developed in order to assist (or substitute) editors in the making of a digital scholarly edition (DSE).
Chiara Martignano
doaj +1 more source
This paper provides an annotated catalogue of the plant bugs, subfamily Orthotylinae (Heteroptera: Miridae) from the Korean Peninsula. In this study, a total of 41 species are enumerated, including four new records from the Korean Peninsula ...
Sunghoon Jung +2 more
doaj +1 more source
The proposed mechanism of action for the CDK12/13 inhibitor and cyclin K degrader, CT7439. CDK12/13 inhibition interrupts transcription elongation, leading to increased DNA damage that results in cell death. This agent is a potentially novel treatment option for patients with colorectal cancer. Created in BioRender. Cyclin‐dependent kinase (CDK) 12 and
Wylie K. Watlington +10 more
wiley +1 more source

