|
Retinitis Pigmentosa
|
0.500 |
Biomarker
|
disease |
LHGDN |
We conclude that the expanded Prp8 Jab1/MPN domain represents a pseudoenzyme converted into a protein-protein interaction platform and that dysfunction of this platform underlies Retinitis pigmentosa.
|
17317632 |
2007 |
|
Retinitis Pigmentosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This paper reviews the published histopathologic findings of patients with retinitis pigmentosa (RP) or an allied disease in whom the responsible gene defect was identified, including 10 cases with dominant RP (cases with mutations in RHO, PRPC8, and RP1), three with dominant spinocerebellar ataxia (SCA7), three X-linked RP carrier females (RPGR), two with congenital retinal blindness (AIPL1 and RPE65), two with mitochondrial encephalomyopathy overlap syndrome (MTTL1), and one case each with dominant cone degeneration (GCAP1), X-linked cone degeneration (RCP), enhanced S-cone syndrome (NR2E3), and dominant late-onset retinal degeneration (CTRP5).
|
16020312 |
2005 |
|
Retinitis Pigmentosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Histologic study of retinitis pigmentosa due to a mutation in the RP13 gene (PRPC8): comparison with rhodopsin Pro23His, Cys110Arg, and Glu181Lys.
|
15126168 |
2004 |
|
Retinitis Pigmentosa
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13).
|
11910553 |
2002 |
|
Retinitis Pigmentosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Using a positional cloning and candidate gene strategy, we have identified seven different missense mutations in the splicing factor gene PRPC8 in adRP families.
|
11468273 |
2001 |
|
Retinitis Pigmentosa
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).
|
11468273 |
2001 |
|
Retinitis Pigmentosa
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Cerebrovascular accident
|
0.300 |
Biomarker
|
group |
CTD_human |
Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.
|
29531354 |
2018 |
|
Acute Cerebrovascular Accidents
|
0.300 |
Biomarker
|
disease |
CTD_human |
Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.
|
29531354 |
2018 |
|
HIV Infections
|
0.300 |
Biomarker
|
group |
CTD_human |
Host cell gene expression during human immunodeficiency virus type 1 latency and reactivation and effects of targeting genes that are differentially expressed in viral latency.
|
15308739 |
2004 |
|
HIV Coinfection
|
0.300 |
Biomarker
|
disease |
CTD_human |
Host cell gene expression during human immunodeficiency virus type 1 latency and reactivation and effects of targeting genes that are differentially expressed in viral latency.
|
15308739 |
2004 |
|
Disorder of eye
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
|
Disorder of eye
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
|
Disorder of eye
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
|
Hereditary retinal dystrophy
|
0.200 |
Biomarker
|
group |
MGD |
Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration.
|
20811066 |
2011 |
|
Glaucoma
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Variants in the PRPF8 Gene are Associated with Glaucoma.
|
28707069 |
2018 |
|
Blindness
|
0.110 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations linked to retinitis pigmentosa (RP), a disease that causes blindness in humans, map to the Brr2 regulatory region of Prp8.
|
26968627 |
2016 |
|
Glaucoma
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
Blindness
|
0.110 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The PRPF8 variants associated with POAG are located at the N-terminus, while all RP-associated mutations cluster at the C-terminus, dictating a clear genotype-phenotype correlation.
|
28707069 |
2018 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
All but two adRP-linked variants are located in the last exon 43 encoding the C-terminal tail of the C-terminal PRPF8 Jab1 domain.
|
29087248 |
2018 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Importantly, autosomal dominant retinitis pigmentosa (adRP)-associated PRPF8 mutant R2310K is defective in regulating mitophagy.
|
30103670 |
2018 |
|
Ischemic stroke
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.
|
29531354 |
2018 |
|
Blood Protein Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Co-regulatory networks of human serum proteins link genetics to disease.
|
30072576 |
2018 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We identify 112 candidate ciliogenesis and ciliopathy genes, including 44 components of the ubiquitin-proteasome system, 12 G-protein-coupled receptors, and 3 pre-mRNA processing factors (PRPF6, PRPF8 and PRPF31) mutated in autosomal dominant retinitis pigmentosa.
|
26167768 |
2015 |