FAQ

RETINITIS PIGMENTOSA 2 (disorder)

Known as: RP2, Retinitis Pigmentosa 2 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1979-2017
024619792017

Related topics

Related topics

6 relations
CataractNight BlindnessRP2 geneRP2, TYR151TER
(More)

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
RETINITIS PIGMENTOSA 2 (disorder)
Cataract
Retinitis Pigmentosa
Night Blindness
X-linked inheritance
RP2 gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration.
PURPOSE Mutations in the RP2 gene are associated with 10% to 15% of X-linked retinitis pigmentosa (XLRP), a debilitating disorder… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
2013
2013
Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.
PURPOSE We determined the fraction of families in a well-characterized cohort with a provisional diagnosis of autosomal dominant… (More)
Is this relevant?
2012
2012
The X-linked retinitis pigmentosa protein RP2 facilitates G protein traffic.
The X-linked retinitis pigmentosa protein RP2 is a GTPase activating protein (GAP) for the small GTPase Arl3 and both proteins… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
2011
2011
Functional Analysis of Retinitis Pigmentosa 2 (RP2) Protein Reveals Variable Pathogenic Potential of Disease-Associated Missense Variants
Genetic mutations are frequently associated with diverse phenotypic consequences, which limits the interpretation of the… (More)
  • figure 1
  • table 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
2010
2010
The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development.
Ciliopathies represent a growing group of human genetic diseases whose etiology lies in defects in ciliogenesis or ciliary… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2008
Highly Cited
2008
The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3
The retinitis pigmentosa 2 (RP2) gene is responsible for a particular variant of X chromosome–linked eye disease. Previously, RP2… (More)
  • table 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
2006
2006
The retinitis pigmentosa-mutated RP2 protein exhibits exonuclease activity and translocates to the nucleus in response to DNA damage.
Retinitis pigmentosa (RP) is a genetically heterogeneous disease characterized by degeneration of the retina. Mutations in the… (More)
Is this relevant?
2003
2003
Postsynaptic protein kinase A reduces neuronal excitability in response to increased synaptic excitation in the Drosophila CNS.
Previous work has identified a role for synaptic activity in the development of excitable properties of motoneurons in the… (More)
  • figure 1
  • figure 3
  • figure 2
  • figure 4
  • figure 5
Is this relevant?
2002
2002
Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3.
Mutations in the retinitis pigmentosa 2 (RP2) gene cause a severe form of X-linked retinal degeneration. RP2 is a ubiquitous 350… (More)
Is this relevant?
2001
2001
Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.
X-linked Retinitis Pigmentosa (XLRP) shows a huge genetic heterogeneity with almost five distinct loci on the X chromosome. So… (More)
Is this relevant?