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Colorectal cancer (CRC) is the second most frequently diagnosed cancer worldwide and represents a major challenge for public health. Despite advances in molecular profiling, important gaps remain in our understanding of tumorigenesis and the regulatory …
Read PDFAtherosclerosis is a major cause of mortality due to chronic and progressive low-grade inflammation and fibroproliferative remodelling of the intima of arteries. Comprehensive understanding of the interplay between plaque biology and the mechanisms underlying plaque …
Read PDFRetrotransposon long interspersed nuclear element-1 (LINE-1, L1) constitutes a large proportion of the mammalian genome. A fraction of L1s, which have no deleterious mutations in the structure, can amplify their copies via a process called …
Read PDFTumor-infiltrating T cells have been the primary focus of cancer immunotherapy; however, accumulating evidence points to a critical role for B cells and plasma cells in shaping responses to immune checkpoint blockade. In this study, …
Read PDFOvarian cancer (OC) remains one of the deadliest gynecological malignancies, largely due to late diagnosis and the emergence of resistance to platinum-based chemotherapy. Long non-coding RNAs (lncRNAs) have recently emerged as key regulators of tumor …
Read PDFWe developed SpliPath as a generalizable framework to discover disease associations mediated by rare variants that induce experimentally supported mRNA splicing defects. Our approach integrates components of burden tests (BTs), traditional splicing quantitative trait locus …
Read PDFTreatment with immune checkpoint inhibitors in colorectal cancer (CRC) has largely benefited patients with microsatellite instability-high (MSI-H) and not the larger proportion of patient with microsatellite-stable (MSS) tumors. This clinical dichotomy has fueled the view …
Read PDFVentral midbrain dopaminergic neurons are a key cell type for schizophrenia pathophysiology but information about cell type-specific genomic dysregulation in diseased brains is missing. We generated a unique midbrain functional genomics resource with 97 RNA-seq …
Read PDF<h4>Background</h4>Chimeric antigen receptor T cell therapy has limited efficacy in the treatment of glioma due to the blood-brain barrier and T cell exhaustion. Enhancement with rabies virus glycoprotein (RVG29) has shown improved brain-related efficacy.<h4>Methods</h4>In this …
Read PDFNeuroblastoma accounts for approximately 15% of all pediatric cancer-related deaths, largely due to disease relapse following intensive multimodal therapy. A critical barrier to cure neuroblastoma is the emergence of therapy-resistant tumor cells. Neuroblastoma comprises two …
Read PDFThere are ~ 60 clustered protocadherin (cPcdh) isoforms expressed from three gene clusters (Pcdha, Pcdhb, Pcdhg) arrayed in tandem across nearly 1 Mb in mammals. cPcdhs are homophilic cell adhesion molecules (CAMs) critical for a …
Read PDFBACKGROUND: Myofibroblast differentiation is a key process in developmental biology and involved in numerous physiopathology. The gene expression program orchestrating fibroblast to myofibroblast differentiation, as well as its recapitulation by TGFβ stimulation in vitro, is …
Read PDF<b>Background/Objectives:</b><i>CDH1</i> gene is widely studied, as pathogenic variants are involved in diffuse gastric cancers and lobular breast cancers. <i>CDH1</i> genotype contributes to the management of clinical practice recommendations for cancer prevention. We proposed a qualitative …
Read PDFKaposi's sarcoma-associated herpesvirus (KSHV) encodes multiple short and long noncoding RNAs which contribute to viral latency, persistence, host gene regulation, and immune evasion. The Antisense-to-Latency Transcript (ALT) is a ~ 10 kb long noncoding RNA …
Read PDFColorectal cancer is initiated by loss of APC, which drives expansion of LGR5+ intestinal stem cell (ISC) populations. Whilst LGR5 + ISC expansion is a critical step for tumour initiation and progression, its regulation is …
Read PDFCell segmentation in imaging-based spatial transcriptomics (ST) relies on stained image segmentation or transcript clustering, but current methods are limited by dependence on manual annotations, sensitivity to staining quality and cell density, and lack of …
Read PDFMuscleblind-like (MBNL) RNA-binding proteins (RBPs) possess modular domains that mediate regulation of alternative splicing and RNA localization. In Myotonic Dystrophy Type 1, a CTG repeat expansion disorder, MBNL is sequestered into intranuclear RNA foci, impairing …
Read PDFGenetic disorders impacting vision affect millions of individuals worldwide, including age-related macular degeneration (common) and inherited retinal disorders (rare). There is an incomplete understanding of the impact of genetic variation on gene expression in the …
Read PDFSince its discovery in higher plants, melatonin has attracted considerable attention for its antioxidant properties and its diverse roles in plant physiology and stress responses. However, its biosynthetic pathway remains only partially elucidated, particularly in …
Read PDFAlzheimer's disease (AD) is characterized by the accumulation of amyloid-β42 (Aβ42) neurotoxic peptides that cause oxidative stress and neurodegeneration. The current study examined the neuroprotective properties of salvianolic acid A (SalA), an antioxidant polyphenol, in …
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