Identification of a novel variant in <i>MLH1</i> intron causing aberrant splicing associated with Lynch syndrome. [PDF]
Gastroenterol Rep (Oxf)Liu AX +5 more
europepmc +1 more source
Novel Genetic Variant in HUWE1
Objectives To provide a comprehensive description of neuroradiologic findings in a patient with a probable pathogenic variant of HUWE1, particularly in relation to pontine and cerebellar hypoplasia. Methods We first report prenatal and postnatal neuroradiologic phenotype of a female patient carrying a HUWE1 likely pathogenic variant and discuss its ...
Tortora, Mario +10 more
openaire +1 more source
Cell surface interactome analysis identifies TSPAN4 as a negative regulator of PD‐L1 in melanoma
Molecular Oncology, EarlyView.Using cell surface proximity biotinylation, we identified tetraspanin TSPAN4 within the PD‐L1 interactome of melanoma cells. TSPAN4 negatively regulates PD‐L1 expression and lateral mobility by limiting its interaction with CMTM6 and promoting PD‐L1 degradation.
Guus A. Franken +7 more
wiley +1 more source
Restless Eyes at Night: A Novel Variant of Restless Legs Syndrome. [PDF]
Eur J Case Rep Intern MedYanagita Y +6 more
europepmc +1 more source
Molecular Oncology, EarlyView.Pharmacologic ascorbate (vitamin C) increases ROS, disrupts cellular metabolism, and induces DNA damage in CRPC cells. These effects sensitize tumors to PARP inhibition, producing synergistic growth suppression with olaparib in vitro and significantly delayed tumor progression in vivo. Pyruvate rescue confirms ROS‐dependent activity.
Nicolas Gordon +13 more
wiley +1 more source
APC-Mutated MUC4-Positive Fibroblastoma With Cytoplasmic β-Catenin: A Novel Variant Expanding Its Immunophenotypic Spectrum. [PDF]
CureusOnalaja-Underwood A, Naous R.
europepmc +1 more source
LDAcoop: Integrating non‐linear population dynamics into the analysis of clonogenic growth in vitro
Molecular Oncology, EarlyView.Limiting dilution assays (LDAs) quantify clonogenic growth by seeding serial dilutions of cells and scoring wells for colony formation. The fraction of negative wells is plotted against cells seeded and analyzed using the non‐linear modeling of LDAcoop.
Nikko Brix +13 more
wiley +1 more source
Novel Variant of RARB Gene in Familial Isolated Ocular Coloboma: A Case Report. [PDF]
Am J Case RepArmstrong GZ +3 more
europepmc +1 more source
Plecstatin inhibits hepatocellular carcinoma tumorigenesis and invasion through cytolinker plectin
Molecular Oncology, EarlyView.The ruthenium‐based metallodrug plecstatin exerts its anticancer effect in hepatocellular carcinoma (HCC) primarily through selective targeting of plectin. By disrupting plectin‐mediated cytoskeletal organization, plecstatin inhibits anchorage‐dependent growth, cell polarization, and tumor cell dissemination.
Zuzana Outla +10 more
wiley +1 more source
A Novel Variant of the <i>ACTRT1</i> Gene Is Potentially Associated with Oligoasthenoteratozoospermia, Acrosome Detachment, and Fertilization Failure. [PDF]
Genes (Basel)Solovova O +5 more
europepmc +1 more source