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RPGRIP1 gene

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

Papers overview

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2015
2015
Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are severe hereditary diseases that causes visual… Expand
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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… Expand
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2011
2011
Recent studies have established ciliary dysfunction as the underlying cause of a broad range of multi-organ phenotypes, known as… Expand
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2010
2010
RPGR-interacting protein-1 (RPGRIP1) is localized in the photoreceptor-connecting cilium, where it anchors the RPGR (retinitis… Expand
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2009
2009
Purpose Previously, a 44 bp insertion in exon 2 of retinitis pigmentosa GTPase interacting protein 1 (RPGRIP1) was identified as… Expand
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2009
2009
The function of the retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) gene is currently not known. However… Expand
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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… Expand
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2005
2005
OBJECTIVE To identify mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis… Expand
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Highly Cited
2003
Highly Cited
2003
Cone-rod dystrophies (CRD) are forms of inherited retinal dystrophy which characteristically lead to early impairment of vision… Expand
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Highly Cited
2000
Highly Cited
2000
Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene cause X-linked retinitis pigmentosa type 3 (RP3), a severe… Expand
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