Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathy.

Objective: Dravet syndrome (DS) is a developmental and epileptic encephalopathy. Diagnosis is clinical, but ~90% of patients have pathogenic variants in SCN1A. ATP6V0C has recently been proposed as a novel candidate gene for epilepsy, with or without developmental delay.

CCL2 expression predicts clinical outcomes, and regulates E-cadherin and angiogenesis in pituitary tumours.

The crosstalk between tumour cells and microenvironment components in pituitary neuroendocrine tumours (PitNETs), including chemokines, may impact tumour behaviour and clinical outcomes. CCL2 was previously identified as a key chemokine in PitNETs, but its role remains unknown. We aimed to study the role of CCL2 in defining the phenotype and clinical outcomes of PitNETs, and in regulating macrophage chemotaxis, epithelial-to-mesenchymal transition (EMT) and angiogenesis.

Dravet syndrome: From neurodevelopmental to neurodegenerative disease?

Objective: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy caused by SCN1A haploinsufficiency in the majority of cases. Caregivers of adults with DS often complain about the loss of previously acquired skills. We set out to explore these perceptions and determine whether abnormalities reported were detectable in validated tests.

Genomic Scale Analysis Foresees Enteroprotective and Butyrogenic Properties in Brazilian Isolates of Lactiplantibacillus plantarum.

Probiogenomics offers a rapid and comprehensive approach to characterizing the beneficial properties of microorganisms, allowing the identification and selection of specific strains for improving human health. The species Lactiplantibacillus plantarum is highly ubiquitous and presents great genetic diversity making it difficult to conduct massive screening of probiotic strains when using conventional methods. Hence, this work aimed to taxonomically and functionally characterize the complete genomes of six novel L.