[PDF][PDF] Análisis del gen CARD15 en uveítis idiopática

NR Perez - 2009 - Citeseer
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 …

Análisis del gen CARD15 en uveítis idiopática

N Rodríguez Pérez - 2010 - docta.ucm.es
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 …

[PDF][PDF] Analysis of Crohn's Disease‐Related CARD15 Polymorphisms in Spanish Patients with Idiopathic Uveitis

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 …

Blau syndrome-related CARD15/NOD2 mutations are not linked to idiopathic uveitis in Spanish patients

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) …

Regulated expression of the CARD15 gene in uveal microvascular endothelial cells

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 …

The common NOD2/CARD15 variant P268S in patients with non-infectious uveitis: a cohort study

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 …

Surprising absence of CARD15/NOD2 mutations in patients with uveitis associated with Crohn's disease

TM Doyle, JF Collins, BM Rajska… - … & Visual Science, 2004 - iovs.arvojournals.org
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 …

Sequencing of the IBD1 Gene, CARD15, in Sarcoidosis Patients with and without Uveitis

TM Doyle, KC Rust, D Dinulescu… - … & Visual Science, 2002 - iovs.arvojournals.org
Purpose: Mutations in CARD15 (IBD1, NOD2) are responsible for a rare, autosomal-
dominant syndrome: familial juvenile systemic granulomatosis (Blau syndrome). This …

Mutation screening of the CARD15 gene in sarcoidosis

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 …

[HTML][HTML] PReS-FINAL-2211: NOD2/CARD15 polymorphisms and clinical features in patients with non-infectious uveitis

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 …