Property Summary

NCBI Gene PubMed Count 80
Grant Count 22
R01 Count 18
Funding $2,437,426.76
PubMed Score 240.47
PubTator Score 461.95

Knowledge Summary

Patent

No data available

Expression

Gene RIF (55)

PMID Text
26842753 The PRPH2 c.828+3A>T mutation results in multiple distinct phenotypes likely modified by protein haplotypes in trans.
26796962 Our data suggest that upregulation of PRPH2 levels in combination with defects in the PRPH2 function caused by the mutation might be an important mechanism leading to cone degeneration
26427414 Studies indicate that mutations in the photoreceptor specific gene retina degeneration slow (RDS; peripherin-2) lead to a variety of retinal degenerative diseases.
26061163 Bi-allelic PRPH2 mutations cause a distinct Leber congenital amaurosis phenotype in infancy; affected adults have prominent maculopathy.
26024099 reason for high qAF among many PRPH2/RDS-positive patients is not known; higher RPE lipofuscin accumulation may be a primary or secondary effect of the PRPH2/RDS mutation
25675413 The PRPH2 c.828+3A>T splice site mutation is a frequent cause of inherited retinal dystrophies and is owing to the founder effect.
25447119 The mutations in PRPH2 account for 10.3% of adRP in the French population, which is higher than previously reported (0%-8%) This makes PRPH2 the second most frequent adRP gene after RHO in our series.
24608669 This article reports a group of patients with molecularly confirmed mutations in the PRPH2 gene and (electro-) negative electroretinograms, an abnormality usually associated with inner retinal dysfunction.
22948568 5 single nucleotide polymorphisms (SNPs: rs3812153, rs7764439, rs390659, rs434102 and c:929G>A) were detected in PRPH2.
22863181 Mutation in PRPH2 gene is associated with Stargardt Disease.
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AA Sequence

MALLKVKFDQKKRVKLAQGLWLMNWFSVLAGIIIFSLGLFLKIELRKRSDVMNNSESHFVPNSLIGMGVL      1 - 70
SCVFNSLAGKICYDALDPAKYARWKPWLKPYLAICVLFNIILFLVALCCFLLRGSLENTLGQGLKNGMKY     71 - 140
YRDTDTPGRCFMKKTIDMLQIEFKCCGNNGFRDWFEIQWISNRYLDFSSKEVKDRIKSNVDGRYLVDGVP    141 - 210
FSCCNPSSPRPCIQYQITNNSAHYSYDHQTEELNLWVRGCRAALLSYYSSLMNSMGVVTLLIWLFEVTIT    211 - 280
IGLRYLQTSLDGVSNPEESESESEGWLLEKSVPETWKAFLESVKKLGKGNQVEAEGAGAGQAPEAG        281 - 346
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Text Mined References (84)

PMID Year Title
26842753 2016 Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers.
26796962 2016 In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.
26427414 2016 RDS Functional Domains and Dysfunction in Disease.
26061163 2016 Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation.
26024099 2015 Quantitative Fundus Autofluorescence and Optical Coherence Tomography in PRPH2/RDS- and ABCA4-Associated Disease Exhibiting Phenotypic Overlap.
25675413 2015 Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies.
25447119 2015 High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.
24608669 2014 Prph2 mutations as a cause of electronegative ERG.
22948568 2012 Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration.
22863181 2012 Molecular diagnosis of putative Stargardt Disease probands by exome sequencing.
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