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RPGRIP1 gene

Known as: RGI1, CORD13, RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN 
National Institutes of Health

Related topics

Related topics

3 relations
Cone-Rod Dystrophy 13LEBER CONGENITAL AMAUROSIS 6 (disorder)RPGRIP1L gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Novel mutations of RPGRIP1 gene in a family with Leber congenital amaurosis
Objective To identify the pathogenic gene mutations in a family with Leber congenital amaurosis (LCA). Methods In October… 
2020
2020
Novel mutation identified in Leber congenital amaurosis - a case report
Background Leber congenital amaurosis (LCA) is the earliest onset and the most severe form of all inherited retinal degenerative… 
2016
2016
A Novel Recessive RPGRIP 1 Mutation Causing Leber Congenital Amaurosis Eine neue rezessive RPGRIP 1 LCA-bestimmende Mutation
Background: Leber congenital amaurosis is an early-onset childhood severe retinal dystrophy, of significant genetic heterogeneity… 
2015
2015
Spata 7 is a retinal ciliopathy gene critical for correct RPGRIP 1 localization and protein traf fi cking in the retina
Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are severe hereditary diseases that causes visual… 
Review
2012
Review
2012
RPGRIP1 and cone-rod dystrophy in dogs.
Cone–rod dystrophies (crd) represent a group of progressive inherited blinding diseases characterized by primary dysfunction and… 
Review
2009
Review
2009
Focus on molecules: RPGRIP1.
2009
2009
LCA5, a Rare Genetic Cause of Leber Congenital Amaurosis in Koreans
Purpose: Leber congenital amaurosis (LCA), the most severe form of inherited retinal dystrophy, is a genetically heterogenous… 
2007
2007
Upregulation of Mark3 and Rpgrip1 mRNA expression by jujuboside A in mouse hippocampus
AbstractAim:To investigate the effect of jujuboside A (JuA) on modulating gene expression in the hippocampus.Methods:The… 
2005
2005
Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization.
PURPOSE Mutations in RPGRIP1 cause Leber congenital amaurosis. The human and bovine RPGRIP1 undergo alternative splicing. A… 
2005
2005
Novel Expression of RPGRIP1 and Functional Analysis of Heterozygous Nonsense Mutations
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