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Our data obtained in Wdr36(+/-) mice do not support the assumption of a causative role for WDR36 in the pathogenesis of primary open-angle glaucoma.
results provide evidence that WDR36 is an essential protein in mammalian cells which is involved in the nucleolar processing of small subunit 18S rRNA
WDR36 plays an important functional role in the retina homeostasis and mutation to this gene can cause devastating retinal damage.
Loss of Wdr36 function leads to an activation of the p53 (show TP53 Proteins) stress-response pathway, suggesting that defects in p53 (show TP53 Proteins) pathway may influence the impact of WDR36 variants on primary open-angle glaucoma.
Familial linkage studies for primary angle-closure glaucoma have been performed and identified WDR36 causative primary angle-closure glaucoma disease
According to molecular genetic studies, WDR36 causative gene involved in the development of Primary open-angle glaucoma.
Single nucleotide polymorphism in the WDR36 gene, rs10038177 (c.710+30C>T), was found to be strongly associated with the high tension glaucoma cases, but not with controls in the East Indian population.
Rare WDR36 variants and the P53 (show TP53 Proteins) p.R72P polymorphism behaved as moderate glaucoma risk factors in Spanish patients. The authors provide evidence for a genetic interaction between WDR36 and P53 (show TP53 Proteins) variants in glaucoma susceptibility.
WDR36 acts as a scaffold protein (show HOMER1 Proteins) tethering a G-protein-coupled receptor (show ADRA1A Proteins), Galphaq (show GNAQ Proteins) and phospholipase C beta 2 (show PLCb2 Proteins) in a signalling complex
WDR36 sequence variance was only a rare cause of primary open-angel glaucoma glaucoma in Italian families with glaucoma.
Genetic variants of CYP1B1 (show CYP1B1 Proteins) and WDR36 in the patients with primary congenital glaucoma and primary open angle glaucoma from Saint-Petersburg
First series of WDR36 mutations in subjects with high- and low-pressure adult-onset primary open angle glaucoma. First mRNA expression profiling of this gene in various ocular and non-ocular tissues for human and mouse.
Our results provided mapping of a novel locus for juvenile-onset primary open angle glaucoma at 5q and excluded coding or splicing junctions mutations within the WDR36 gene.
The association of WDR36 sequence variants with more severe disease in affected individuals suggests that defects in the WDR36 gene can contribute to POAG and that WDR36 may be a glaucoma modifier gene.
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Mutations in this gene have been associated with adult-onset primary open-angle glaucoma (POAG).
WD repeat-containing protein 36
, T-cell activation WD repeat protein
, T-cell activation WD repeat-containing protein