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
Hippo pathway at the crossroads of stemness and therapeutic resistance in breast cancer
Dysregulation of the Hippo pathway drives nuclear accumulation of YAP/TAZ, activating stemness‐related transcriptional programs that sustain breast cancer stemness and fuel therapeutic resistance across subtypes, underscoring Hippo signaling as a targetable vulnerability. Figure created and edited with BioRender.com.
Giulia Schiavoni +11 more
wiley +1 more source
Hemophagocytic lymphohistiocytosis accompanying Still's disease: A case report
Key Clinical Message Hemophagocytic lymphohistiocytosis (HLH) is a rare hematologic disease that occurs due to immune system dysfunction. Clinical manifestations of this disease are fever, increased ferritin level, cytopenia, and hemophagocytosis in the ...
Arman Ahmadzadeh +4 more
doaj +1 more source
Baseline CXCL10 and CXCL13 levels are predictive biomarkers for tumor necrosis factor inhibitor therapy in patients with moderate to severe rheumatoid arthritis: a pilot, prospective study [PDF]
BACKGROUND: TNF inhibitors have been used as a treatment for moderate to severe RA patients. However, reliable biomarkers that predict therapeutic response to TNF inhibitors are lacking.
Andrea Bottaro +4 more
core +1 more source
dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon +6 more
wiley +1 more source
Mouse pre‐implantation development involves a transition from totipotency to pluripotency. Integrating transcriptomics, epigenetic profiling, low‐input proteomics and functional assays, we show that eight‐cell embryos retain residual totipotency features, whereas cytoskeletal remodeling regulated by the ubiquitin‐proteasome system drives progression ...
Wanqiong Li +8 more
wiley +1 more source
Dapagliflozin prevents methylglyoxal‐induced retinal cell death in ARPE‐19 cells
Diabetic macular oedema is a diabetes complication of the eye, which may lead to permanent blindness. ARPE‐19 are human retinal cells used to study retinal diseases and potential therapeutics. Methylglyoxal is a compound increased in uncontrolled diabetes due to elevated blood glucose.
Naina Trivedi +7 more
wiley +1 more source
Digital twins to accelerate target identification and drug development for immune‐mediated disorders
Digital twins integrate patient‐derived molecular and clinical data into personalised computational models that simulate disease mechanisms. They enable rapid identification and validation of therapeutic targets, prediction of drug responses, and prioritisation of candidate interventions.
Anna Niarakis, Philippe Moingeon
wiley +1 more source
Adult-Onset Still's Disease: A Review
Adult-onset Still's disease (AOSD) is an uncommon inflammatory condition characterised by high fever, leukocytosis with neutrophilia, arthralgia and skin rash.
Weng Seng Fong MBBS (Singapore), MRCP (UK) +1 more
doaj +1 more source
Long‐term hippocampal alterations and cognitive impairment in a murine model of surgical sepsis
Using a mouse model of surgical sepsis, we tested long‐term memory and analyzed the transcriptome of single cells isolated from the hippocampus. Survivor mice showed worse memory, loss of certain brain cell subpopulations, and abnormal immune cell activity—suggesting that post‐sepsis brain alterations may be linked to cognitive deficits.
Dong Seong Cho +4 more
wiley +1 more source

