MCC950 blocks enhanced interleukin-1β production in patients with NLRP3 low penetrance variants.
Sign Up to like & getrecommendations! Published in 2019 at "Clinical immunology"
DOI: 10.1016/j.clim.2019.04.004
Abstract: OBJECTIVE To determine the role of the NLRP3 inflammasome by using the selective NLRP3 inhibitor MCC950 in patients with NLRP3 low penetrance variants and clinical symptoms suggestive for an autoinflammatory syndrome including central nervous system… read more here.
Keywords: patients nlrp3; nlrp3 low; penetrance; low penetrance ... See more keywords
A Novel DSP Truncating Variant in a Family with Episodic Myocardial Injury in the Course of Arrhythmogenic Cardiomyopathy—A Possible Role of a Low Penetrance NLRP3 Variant
Sign Up to like & getrecommendations! Published in 2020 at "Diagnostics"
DOI: 10.3390/diagnostics10110955
Abstract: Mono-allelic dominant mutations in the desmoplakin gene (DSP) have been linked to known cardiac disorders, such as arrhythmogenic right ventricular cardiomyopathy and dilated cardiomyopathy. During the course of DSP cardiomyopathy, episodes of acute myocardial injury… read more here.
Keywords: low penetrance; family; course; dsp ... See more keywords