Associated Papers
Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult-Onset Still's Disease.
Topping J et al.
Arthritis & Rheumatology (hoboken, N.j.), 2025
Palmitoylation restricts SQSTM1/p62-mediated autophagic degradation of NOD2 to modulate inflammation.
Zhou L et al.
Cell Death and Differentiation, 2022
Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn's Disease.
Horowitz JE et al.
Scientific Reports, 2021
33692434 (PubMed )
Supplement: 41598_2021_84938_MOESM2_ESM.xlsx › Table_S3
Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study.
Rojas-Restrepo J et al.
Frontiers in Immunology, 2021
Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing.
Batlle-Masó L et al.
European Journal of Medical Genetics, 2020
Mutual alteration of NOD2-associated Blau syndrome and IFNγR1 deficiency.
Parackova Z et al.
Journal of Clinical Immunology, 2020
Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotype.
Grandemange S et al.
Molecular Genetics & Genomic Medicine, 2017
Novel CARD15/NOD2 mutations in Finnish patients with Crohn's disease and their relation to phenotypic variation in vitro and in vivo.
Lappalainen M et al.
Inflammatory Bowel Diseases, 2008
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.
Hugot JP et al.
Nature, 2001
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