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RD3 gene

Known as: CHROMOSOME 1 OPEN READING FRAME 36, RD3, C1ORF36 
National Institutes of Health

Related topics

Related topics

1 relation
LEBER CONGENITAL AMAUROSIS 12 (disorder)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
GCAP neuronal calcium sensor proteins mediate photoreceptor cell death in the rd3 mouse model of LCA12 congenital blindness by involving endoplasmic reticulum stress
Loss-of-function mutations in the retinal degeneration 3 (RD3) gene cause inherited retinopathy with impaired rod and cone… 
2020
2020
Optical coherence tomography and fundus autofluorescence imaging in an infant with RD3-related leber congenital amaurosis
ABSTRACT Background: Leber congenital amaurosis (LCA) is both genetically and phenotypically heterogeneous group of retinal… 
2019
2019
A G86R mutation in the calcium-sensor protein GCAP1 alters regulation of retinal guanylyl cyclase and causes dominant cone-rod degeneration
The guanylyl cyclase-activating protein, GCAP1, activates photoreceptor membrane guanylyl cyclase (RetGC) in the light, when free… 
2016
2016
Identification of possible target binding site in retinal degeneration 3 (RD3) protein
2015
2015
Dimerization Domain of Retinal Membrane Guanylyl Cyclase 1 (RetGC1) Is an Essential Part of Guanylyl Cyclase-activating Protein (GCAP) Binding Interface*
Background: GCAPs regulate photoreceptor guanylyl cyclase RetGC1 but not hormone receptor guanylyl cyclase NPRA. Results… 
2014
2014
Impaired Association of Retinal Degeneration-3 with Guanylate Cyclase-1 and Guanylate Cyclase-activating Protein-1 Leads to Leber Congenital Amaurosis-1*
Background: Defects in the function of guanylate cyclase 1 (GC1) cause Leber congenital amaurosis (LCA) type 1. Results: GC1… 
Review
2014
Review
2014
Insights into the role of RD3 in guanylate cyclase trafficking, photoreceptor degeneration, and Leber congenital amaurosis
Retinal degeneration 3 (RD3) is an evolutionarily conserved 23 kDa protein expressed in rod and cone photoreceptor cells… 
2011
2011
Targeting of mouse guanylate cyclase 1 (Gucy2e) to Xenopus laevis rod outer segments
2010
2010
Insights Into the Molecular Basis of Leber Congenital Amaurosis (LCA12) Associated With Mutations in RD3
2003
2003
Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.
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