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A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolvedNARA Subscribed
Pathogenic DEGS1 variants have been reported in individuals with autosomal recessive hypomyelinating leukodystrophy 18 (HLD18; MIM# 618404). Here we describe three participants with HLD features and a previously unreported homozygous DEGS1 5′ splice site variant, c.825+4_825 + 5delAGinsTT (NM_003676.4). We used next-generation DNA and transcriptome sequencing, cell-based splicing assays, and tandem mass spectrometry to detect...
Phenmedipham has been used for weed management in European sugar beet for decades and is undergoing renewal evaluation. We evaluated its agronomic importance to demonstrate its critical role in European agriculture. Systematic evaluation across eight EU Member States representing 85% of European sugar beet cultivation area demonstrated that zero alternative herbicides were shortlisted despite 9–17 authorized active substances....
Effective stress regulation is essential for emotional health, whereas maladaptive stress responses contribute to neuropsychiatric disorders such as depression and post-traumatic stress disorder. Because neuron–microglia interactions are increasingly recognized as key modulators of neuroplasticity under physiological conditions, stress-related microglial dysregulation may contribute to aberrant neuronal responses implicated in...