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Human Monoclonal WDR36 Primary Antibody pour ELISA, WB - ABIN530722
Footz, Johnson, Dubois, Boivin, Raymond, Walter: Glaucoma-associated WDR36 variants encode functional defects in a yeast model system. dans Human molecular genetics 2009
Show all 3 Pubmed References
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 stress-response pathway, suggesting that defects in p53 pathway may influence the impact of WDR36 variants on primary open-angle glaucoma.
Study suggests that WDR36 gene is involved in the pathogenesis of juvenile open-angle glaucoma in Taiwan population as a subordinate modifier gene.
Meta-analysis does not support a significant role of WDR36 in the genetic susceptibility of primary open angle glaucoma or its subtypes.
The association between WDR36 and POAG was not supported, and the majority of POAG cases did not harbor a potentially disease-causing variant in the remaining Mendelian genes.
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 p.R72P polymorphism behaved as moderate glaucoma risk factors in Spanish patients. The authors provide evidence for a genetic interaction between WDR36 and P53 variants in glaucoma susceptibility.
WDR36 acts as a scaffold protein tethering a G-protein-coupled receptor, Galphaq and phospholipase C beta 2 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 and WDR36 in the patients with primary congenital glaucoma and primary open angle glaucoma from Saint-Petersburg
role in etiology of both high- and low-pressure glaucoma.
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.
The WDR36 D658G is a neutral variant in the Australian population.
The finding that the WDR36 gene is probably not the responsible gene in this family further documents the genetic heterogeneity of POAG (primary open-angle glaucoma).
WDR36 gene variants may be only rare causes of normal tension glaucoma in the German population.
One nonsynonymous variant, p.S664L, and association of allelic variants (p.I264V and c.1965-30A>G) in WDR36 and their prevalence in unrelated Japanese patients with high tension glaucoma (HTG) suggest they are probably involved in pathogenesis of HTG.
The occurrence of several rare putative disease-causing variants in patients with glaucoma suggests that WDR36 may be a minor disease-causing gene in glaucoma, at least in the German population.
Timolol can reduce MYOC RNA levels in HTM cultures from some individuals. Timolol does not alter OPTN or WDR36 levels or ameliorate MYOC induction by dexamethasone in vitro.
WDR36 sequence variants can lead to an altered cellular phenotype, supporting the theory that WDR36 participates in polygenic forms of glaucoma.
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