Reposted by @shouyafeng.bsky.social
A large dataset we hope is helpful for patients who may have CAPS, an #autoinflammatory condition associated with genetic variants in NLRP3. Lots of "variants of uncertain significance" now have a specific readout from our in vitro assay which can help with clinical diagnosis.
rdcu.be/d9iRG
rdcu.be
Mechanisms of NLRP3 activation and inhibition elucidated by functional analysis of disease-associated variants
Nature Immunology - Gain-of-function variants in the gene encoding NLRP3 lead to constitutive inflammasome activation and excessive IL-1β production. In this resource, authors perform...
