Nod2 es un receptor de reconocimiento de patrones (PRR) citoplásmico, perteneciente a la familia de receptores de tipo NOD (NLR) y consta de tres tipos de dominios estructurales y …
N Rodríguez-Pérez, A Aguinaga-Barrilero… - Disease …, 2008 - Wiley Online Library
We wished to analyse the frequency of Crohn's disease-linked CARD15 polymorphisms (P268S, R702W, G908R and 1007fs) in a group of Spanish patients with idiopathic uveitis …
N Rodríguez-Pérez, A Aguinaga-Barrilero… - Disease …, 2009 - content.iospress.com
Uveitis is a clinical feature of the Blau syndrome, a disease linked to CARD15 (also referred to as NOD2) mutations. Three main mutations in this gene (R334W, R334Q and L469F) …
TM Martin, DO Zamora, D Dinulescu… - … & Visual Science, 2002 - iovs.arvojournals.org
Purpose: CARD15 is a gene that has recently been identified as a Crohn's disease susceptibility gene at the IBD1 locus, and is the gene responsible for familial juvenile …
E Marrani, R Cimaz, OM Lucherini, R Caputo… - Pediatric …, 2015 - Springer
Abstract Background The etiology of Autoimmune chronic uveitis (ACU) is still unknown; NOD2/CARD15 gene mutations are responsible for the Blau Syndrome and can induce …
Purpose: CARD15/NOD2 mutations have been found to cause a rare autosomal–dominant form of uveitis called familial juvenile systemic granulomatosis (also called Blau syndrome …
Purpose: Mutations in CARD15 (IBD1, NOD2) are responsible for a rare, autosomal- dominant syndrome: familial juvenile systemic granulomatosis (Blau syndrome). This …
M Akahoshi, M Ishihara, K Namba, N Kitaichi… - Tissue …, 2008 - Wiley Online Library
CARD15 was first identified as a susceptibility gene for Crohn's disease. More recently, CARD15 mutations were shown to be associated with the pediatric granulomatous …
E Marrani, R Cimaz, OM Lucherini… - Pediatric …, 2013 - ped-rheum.biomedcentral.com
Objectives Aim of our study is to assess if NOD2-polymorphisms or mutations have a role in the etiology or in the clinical course of patients with non infectious uveitis, either idiopathic or …