Article
Lack of association between the protein tyrosine phosphatase non-receptor type 22 R263Q and R620W functional genetic variants and endogenous non-anterior uveitis.
Molecular vision - 1 Jan 2013
Cénit María Carmen, Márquez Ana, Cordero-Coma Miguel, Fonollosa Alejandro, Llorenç Victor, Artaraz Joseba, Díaz Valle David, Blanco Ricardo, Cañal Joaquín, Salom David, García Serrano José Luis, de Ramón Enrique, José del Rio María, Gorroño-Echebarría Marina Begoña, Martín-Villa José Manuel, Molins Blanca, Ortego-Centeno Norberto, Martín Javier
Abstract excerpt
OBJECTIVE: Endogenous uveitis is a major cause of visual loss mediated by the immune system. The protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene encodes a lymphoid-specific phosphatase that plays a key role in T-cell receptor (TCR) signaling. Two independent functional missense single nucleotide polymorphisms (SNPs) located within the PTPN22 gene (R263Q and R620W) have been associated with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.