David B. Beck

The paper compares the ability of different Orai isoforms to promote NFAT activation and transcription, finding Orai1α and Orai1β are more potent than Orai2 and Orai3.

This study identifies cGAS-STING pathway activation as a key mechanism of inflammation in VEXAS, showing that UBA1 mutations disrupt ERAD and mitochondrial homeostasis, leading to STING-driven inflammation.

The paper identifies PSMC5 variants causing neurodevelopmental disorders and shows their impact on neuronal function and immune signaling, suggesting therapeutic targets.

This study investigates how UBA1 mutations in VEXAS syndrome lead to monocyte dysfunction and inflammation through RIPK1-mediated cell death and impaired NF-κB signaling.

This study uses single-cell multi-omics to map genotype-to-phenotype relationships in VEXAS syndrome, identifying PERK pathway activation as a therapeutic target.

This study identifies IL1RN variants associated with reduced cytokine release syndrome and mortality in male SARS-CoV-2 patients.

The paper identifies a ubiquitin switch mechanism that regulates CDC42 signaling to coordinate ectodermal patterning in vertebrate development.

This study uses genomic ascertainment to determine the prevalence and clinical features of pathogenic UBA1 variants in a population-based cohort, finding higher prevalence and expressivity than previously reported.

This paper reviews host genetic factors associated with coronavirus susceptibility in humans and animals, identifying significant loci and highlighting limitations in current studies.

This study identifies OTUD5 as essential for chromatin remodeling during development, showing its role in preventing degradation of chromatin regulators and maintaining proper gene expression networks.

This study identifies and characterizes 11 cases of TET3 deficiency, a new Mendelian disorder of DNA demethylation, associated with intellectual disability and developmental delays.