PHENOTYPICAL AND MYOPATHOLOGICAL CONSEQUENCES OF COMPOUND HETEROZYGOUS MISSENSE AND NONSENSE VARIANTS IN SLC18A3

Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3

Background: Presynaptic forms of congenital myasthenic syndromes (CMS) due to pathogenic variants in SLC18A3 impairing the synthesis and recycling of acetylcholine (ACh) have recently been described.SLC18A3 encodes the vesicular ACh transporter (VAChT), modulating the active transport of ACh at the neuromuscular junction, and homozygous loss of VAC

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Meta-analysis of 0 to 8 h post-prandial evolution of ruminal pH

The objective of this study was to identify relevant descriptors of ruminal pH post-prandial evolution that can replace the mean pH (considered unsatisfactory).These descriptors are to be used in the attempts to predict ruminal pH from dietary characteristics, in order to quantify the potential of a diet to induce subacute ruminal acidosis from its

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Cytotoxic Immune Response to a Xenogeneic Bioartificial Liver

Prior studies have suggested the possibility of immune-mediated death of xenogeneic hepatocytes in a bioartificial liver (BAL) during hemoperfusion.This study was designed to elucidate how immunity may cause death of xenogeneic hepatocytes in the BAL.Healthy dogs were treated with a BAL containing hollow fiber membranes with large pores (200 nm) or

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Homeodomain-interacting protein kinase 2 regulates NLRP3 inflammasome activation through endoplasmic reticulum stress in septic liver injury

Artwork Objective Septic liver injury is a major burden for the clinical management of sepsis.Hepatocyte cell death plays a crucial pathophysiological role in sepsis.A recent study proposed that NLRP3 inflammasome-mediated pyroptosis participates in septic liver injury.Therefore, investigating the mechanism controlling this process may help manage

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