RPGRIP1 gene

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

Topic mentions per year

Topic mentions per year

2001-2017
024620012017

Papers overview

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2015
2015
Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are severe hereditary diseases that causes visual… (More)
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2014
2014
For the development of new therapies, proof-of-concept studies in large animal models that share clinical features with their… (More)
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2014
2014
To investigate mutations of causal genes in two affected male siblings of a Japanese family with suspected Leber congenital… (More)
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2013
2013
AIM To characterise the childhood retinal phenotype associated with recessive mutations in retinitis pigmentosa GTPase regulator… (More)
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2011
2011
BACKGROUND Leber congenital amaurosis (LCA) is the earliest onset and most severe form of hereditary retinal dystrophy. So far… (More)
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2011
2011
Cone-rod dystrophy (CRD) is a form of inherited retinal degeneration (RD) causing blindness in man as well as in several breeds… (More)
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2010
2010
RPGR-interacting protein-1 (RPGRIP1) is localized in the photoreceptor-connecting cilium, where it anchors the RPGR (retinitis… (More)
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Highly Cited
2005
Highly Cited
2005
RPGR-interacting protein 1 (RPGRIP1) is a key component of cone and rod photoreceptor cells, where it interacts with RPGR… (More)
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2005
2005
OBJECTIVE To identify mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis… (More)
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2005
2005
The retinitis pigmentosa GTPase regulator (RPGR) protein interacts with the retinitis pigmentosa GTPase regulator interacting… (More)
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