Selenoprotein O (SELENOO) is an antioxidant mitochondrial enzyme that transfers AMP from ATP to protein substrates in a post-translational process known as AMPylation.
Mood disorders include major depressive disorder and bipolar disorder, and they affect mood and cognition. It is known that mood disorders share a genetic heritable background, but the environmental factors also play a key role here. Recent data had highlighted the potential role of micro RNAs (miRNAs) in the pathogenesis of mood disorders.
To identify new genetic modifiers for epidermolysis bullosa simplex (EBS), a team led by scientists at Tel Aviv Medical Center performed exome sequencing of 195 patients with EBS from 90 different families, followed by screening for pathogenic variants in selected individuals, which resulted in identification of 3 variants in HMCN1 (codes for hemicentin-1) that co-segregated with the disease phenotype severity in 4 families.
For the first time, researchers have identified that inflammation – long associated with multiple sclerosis (MS) – appears to cause increased mutations that damage neurons linked to MS progression. Researchers at the Florey Institute and the University of Melbourne studied MS brain lesions, which are areas of past or ongoing brain inflammation that are visible as spots on MRI scans.
Esophageal cancer, particularly esophageal squamous cell carcinoma (ESCC), is one of the most prevalent digestive malignancies, with a 5-year survival rate of only 20%. Although some cancer immunotherapies based on immune checkpoint inhibitors (ICIs) have shown promise for ESCC, only a minority of patients actually benefit from ICI therapy.
Neurodevelopmental disorders related to protein phosphatase 2A (PP2A) have been recently renamed as Houge-Janssens syndrome and they are caused by heterozygous, de novo pathogenic genetic variants in the PPP2R5D, PPP2R1A or PPP2CA genes. The syndrome is characterized by features such as intellectual disability, autism, developmental delay, seizures or brain abnormalities, among others.
For the first time, researchers have identified that inflammation – long associated with multiple sclerosis (MS) – appears to cause increased mutations that damage neurons linked to MS progression. Researchers at the Florey Institute and the University of Melbourne studied MS brain lesions, which are areas of past or ongoing brain inflammation that are visible as spots on MRI scans.
Esophageal cancer, particularly esophageal squamous cell carcinoma (ESCC), is one of the most prevalent digestive malignancies, with a 5-year survival rate of only 20%. Although some cancer immunotherapies based on immune checkpoint inhibitors (ICIs) have shown promise for ESCC, only a minority of patients actually benefit from ICI therapy.
Researchers from Medizinische Hochschule Hannover and affiliated organizations reported data from studies aimed to identify non-coding microRNAs (miRNAs) with therapeutic potential against liver fibrosis in hepatocellular carcinoma (HCC). Functional screening of patient-derived primary human hepatic myofibroblasts, followed by in vivo validation in mouse models of fibrosis, were performed in search of antifibrotic miRNAs.
Urachal carcinoma is a rare cancer which lacks a standard drug therapy, and for which knowledge regarding its immunohistochemical features remains unclear. The aim of a recently reported investigation was finding potential markers and targets for urachal carcinoma based on antibody-drug conjugate targets, as well as its association with prognosis.
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