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Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies
BackgroundChildhood epilepsies are caused by heterogeneous underlying disorders where approximately 40% of the origins of epilepsy can be attributed...
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Identifying early symptoms associated with a diagnosis of childhood, adolescent and young adult cancers: a population-based nested case-control study
BackgroundChildhood, teenage and young adult (CTYA, 0–24 years) cancers are rare and diverse, making timely diagnosis challenging. We aim to explore...
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Effect of α7 nAChR-autophagy axis of deciduous tooth pulp stem cells in regulating IL-1β in the process of physiological root resorption of deciduous teeth
AbstractPhysiological root resorption of deciduous teeth is a normal phenomenon occurring during the developmental stages of children. Previous...
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Cell-cell contact-dependent secretion of large-extracellular vesicles from EFNBhigh cancer cells accelerates peritoneal dissemination
BackgroundLarge non-apoptotic vesicles released from the plasma membrane protrusions are classified as large-EVs (LEVs). However, the triggers of LEV...
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The AKT inhibitor AZD5363 elicits synthetic lethality in ARID1A-deficient gastric cancer cells via induction of pyroptosis
BackgroundGastric cancer (GC) is a deadly disease with poor overall survival and limited therapeutic options. Genetic alterations such as mutations...
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Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?
BackgroundMesomelia-Synostoses Syndrome (MSS)(OMIM 600,383) is a rare autosomal dominant disorder characterized by mesomelic limb shortening, acral...
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BRD7 facilitates ferroptosis via modulating clusterin promoter hypermethylation and suppressing AMPK signaling in diabetes-induced testicular damage
BackgroundDiabetes mellitus (DM)-induced testicular damage is associated with sexual dysfunction and male infertility in DM patients. However, the...
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RNA editing regulates glutamatergic synapses in the frontal cortex of a molecular subtype of Amyotrophic Lateral Sclerosis
BackgroundAmyotrophic Lateral Sclerosis (ALS) is a highly heterogenous neurodegenerative disorder that primarily affects upper and lower motor...
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The interplay of inflammation and remyelination: rethinking MS treatment with a focus on oligodendrocyte progenitor cells
BackgroundMultiple sclerosis (MS) therapeutic goals have traditionally been dichotomized into two distinct avenues: immune-modulatory-centric...
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Disruption of neural periodicity predicts clinical response after deep brain stimulation for obsessive-compulsive disorder
Recent advances in surgical neuromodulation have enabled chronic and continuous intracranial monitoring during everyday life. We used this...
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Introduction and impact of routine whole genome sequencing in the diagnosis and management of sarcoma
BackgroundSarcomas are diverse neoplasms with highly variable histological appearances in which diagnosis is often challenging and management options...
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Understanding the impact of COVID-19 on antibiotic use in Canadian primary care: a matched-cohort study using EMR data
BackgroundInappropriate or overuse of antibiotic prescribing in primary care highlights an opportunity for antimicrobial stewardship (AMS) programs...
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An evidence-based screening tool for heart failure with preserved ejection fraction: the HFpEF-ABA score
Heart failure with preserved ejection fraction (HFpEF) is under-recognized in clinical practice. Although a previously developed risk score, termed H 2 ...
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Hippocampal network activity forecasts epileptic seizures
Seizures in people with epilepsy were long thought to occur at random, but recent methods for seizure forecasting enable estimation of the likelihood...
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An 18-gene signature of recurrence-associated endothelial cells predicts tumor progression and castration resistance in prostate cancer
BackgroundThe prognostic and therapeutic implications of endothelial cells (ECs) heterogeneity in prostate cancer (PCa) are poorly understood.
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Neutrophil-secreted S100A8/A9 participates in fatty liver injury and fibrosis by promoting myofibroblast migration
AbstractFatty liver, which is induced by abnormal lipid metabolism, is one of the most common causes of chronic liver disease globally and causes...
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Presence of Fusobacterium nucleatum in relation to patient survival and an acidic environment in oesophagogastric junction and gastric cancers
BackgroundFusobacterium nucleatum inhabits the oral cavity and affects the progression of gastrointestinal cancer. Our prior findings link F....
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Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein
The clinical diagnosis of patients with multisystem involvement including a pronounced neurologic damage is challenging. High-throughput sequencing...
