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• W2529885318 abstract "that reflects depolarizing bipolar cell (DBC) function. We performed genetic mapping, followed by next-generation sequencing of the critical region and detected a large transposon-like DNA insertion in Gpr179. The involvement of GPR179 in DBC function was confirmed in zebrafish and humans. Functional knockdown of gpr179 in zebrafish led to a marked reduction in the amplitude of the ERG b-wave. Candidate gene analysis of GPR179 in DNA extracted from patients with cCSNB identified GPR179-inactivating mutations in two patients. We developed an antibody against mouse GPR179, which robustly labeled DBC dendritic terminals in wild-type mice. This labeling colocalized with the expression of GRM6 and was absent in Gpr179 nob5/nob5 mutant mice. Our results demonstrate that GPR179 plays a critical role in DBC signal transduction and expands our understanding of the mechanisms that mediate normal rod vision. Congenital stationary night blindness (CSNB) is a severe disability that impairs night vision. Complete CSNB (cCSNB) is a genetically heterogeneous form of the disorder that is caused by mutations in genes that are required for signal transduction through retinal depolarizing bipolar cells (DBCs). 1‐8 The function of photoreceptors and DBCs can be assessed noninvasively with the electroretinogram (ERG), and their light-induced activities are reflected in the a-wave and b-wave, respectively. 9 Individuals" @default.
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• W2529885318 date "2012-01-01" @default.
• W2529885318 modified "2023-09-25" @default.
• W2529885318 title "Function and Is Mutated in Autosomal-Recessive Complete Congenital Stationary Night Blindness" @default.
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