Associated Papers
Stratified analyses refine association between TLR7 rare variants and severe COVID-19.
Boos J et al.
Hgg Advances, 2024
38944683 (PubMed )
Supplement: mmc4.xlsx › single_variants_p_lt_0.05
Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.
D'Agostino Y et al.
Diagnostics (basel, Switzerland), 2022
36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S3.xlsx › Foglio1
Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses.
van Deuren RC et al.
Genome Medicine, 2021
34034819 (PubMed )
Supplement: 13073_2021_907_MOESM1_ESM.xlsx › Table_S3
Non-canonical Caspase-1 Signaling Drives RIP2-Dependent and TNF-α-Mediated Inflammation In Vivo.
Reinke S et al.
Cell Reports, 2020
CASP1 variants influence subcellular caspase-1 localization, pyroptosome formation, pro-inflammatory cell death and macrophage deformability.
Kapplusch F et al.
Clinical Immunology (orlando, Fla.), 2019
Current knowledge on procaspase-1 variants with reduced or abrogated enzymatic activity in autoinflammatory disease.
Luksch H et al.
Current Rheumatology Reports, 2015
Human procaspase-1 variants with decreased enzymatic activity are associated with febrile episodes and may contribute to inflammation via RIP2 and NF-κB signaling.
Heymann MC et al.
Journal of Immunology (baltimore, Md. : 1950), 2014
Naturally occurring genetic variants of human caspase-1 differ considerably in structure and the ability to activate interleukin-1β.
Luksch H et al.
Human Mutation, 2013
Haplotypes of the caspase-1 gene, plasma caspase-1 levels, and cardiovascular risk.
Blankenberg S et al.
Circulation Research, 2006
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