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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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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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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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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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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...
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Benmelstobart, anlotinib and chemotherapy in extensive-stage small-cell lung cancer: a randomized phase 3 trial
Immunochemotherapy is the first-line standard for extensive-stage small-cell lung cancer (ES-SCLC). Combining the regimen with anti-angiogenesis may...
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Adoptive transfer of personalized neoantigen-reactive TCR-transduced T cells in metastatic colorectal cancer: phase 2 trial interim results
Adoptive cell transfer (ACT) with neoantigen-reactive T lymphocytes can mediate cancer regression. Here we isolated unique, personalized,...
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Lipidome changes due to improved dietary fat quality inform cardiometabolic risk reduction and precision nutrition
Current cardiometabolic disease prevention guidelines recommend increasing dietary unsaturated fat intake while reducing saturated fats. Here we use...
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Precision public health in the era of genomics and big data
Precision public health (PPH) considers the interplay between genetics, lifestyle and the environment to improve disease prevention, diagnosis and...
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