Results 201 to 210 of about 460,117 (268)
PGAP1-Related Encephalopathy in an Infant With Neurodevelopmental Delay: Novel Variant and Review of Literature. [PDF]
Baris S, Yavas C.
europepmc +1 more source
High‐risk bladder cancer is typically treated with Bacillus Calmette‐Guérin (BCG), but 30–40% of patients relapse. No FDA‐ or CE‐approved biomarkers currently predict or prognosticate BCG failure. We systematically reviewed the literature and identified 72 eligible studies, revealing several promising biomarkers associated with BCG treatment response ...
Rui Ribeiro‐Pereira +7 more
wiley +1 more source
Identification of a novel variant in <i>MLH1</i> intron causing aberrant splicing associated with Lynch syndrome. [PDF]
Liu AX +5 more
europepmc +1 more source
In head and neck squamous cell carcinoma (HNSCC) p53 and p63 exert opposite roles on the transcription regulation of the lncRNA NEAT1. Under basal conditions, p53 levels are low and p63 represses NEAT1 expression. Upon genotoxic stress, p53 is rapidly induced, displacing p63 from the NEAT1 promoter leading to NEAT1 transcriptional activation and ...
Sara De Domenico +5 more
wiley +1 more source
Novel Variant of RARB Gene in Familial Isolated Ocular Coloboma: A Case Report. [PDF]
Armstrong GZ +3 more
europepmc +1 more source
Taxanes are widely used chemotherapeutics whose effects on cellular mechanics remain poorly understood. We show that paclitaxel induces rapid cellular contraction by promoting GEF‐H1 dissociation from microtubules and non‐muscle myosin II activation through RhoA/ROCK.
Gloria Asensio‐Juárez +5 more
wiley +1 more source
Development of a Highly Sensitive ELISA for Detecting Antibodies Against a Novel Variant Avian Reovirus Based on Dual σC and σB Antigens. [PDF]
Zhao F +5 more
europepmc +1 more source
This study identifies ARHGAP5, in addition to the frequently mutated ARHGAP35, as significantly mutated in endometrial cancer. Mutations in both genes co‐occur and are associated with their correlated downregulation. Functional CRISPR studies show that both paralogs regulate similar pathways, including actin cytoskeleton organization.
Mathilde Pinault +12 more
wiley +1 more source
A Novel Variant in <i>NR5A1</i> Resulting in Normosmic Hypogonadotropic Hypogonadism With Short Stature. [PDF]
Shah S +5 more
europepmc +1 more source
We established the avian chorioallantoic membrane (CAM) assay as a scalable in vivo model for studying circulating tumor cells (CTCs). Human gastrointestinal tumors spontaneously released genetically validated CTCs that were detected across multiple platforms, demonstrating that the CAM model provides an accessible tool for investigating early cancer ...
Dennis Roth +17 more
wiley +1 more source

