|
Retinitis Pigmentosa 13
|
0.920 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).
|
11468273 |
2001 |
|
Retinitis Pigmentosa 13
|
0.920 |
GeneticVariation
|
disease |
UNIPROT |
Structure of a multipartite protein-protein interaction domain in splicing factor prp8 and its link to retinitis pigmentosa.
|
17317632 |
2007 |
|
Retinitis Pigmentosa 13
|
0.920 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.
|
12714658 |
2003 |
|
Retinitis Pigmentosa 13
|
0.920 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).
|
11468273 |
2001 |
|
Retinitis Pigmentosa 13
|
0.920 |
GeneticVariation
|
disease |
UNIPROT |
Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13).
|
11910553 |
2002 |
|
Retinitis Pigmentosa 13
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.
|
24938718 |
2014 |
|
Retinitis Pigmentosa 13
|
0.920 |
GeneticVariation
|
disease |
BEFREE |
Genes coding for components of the U4/U6.U5 tri small nuclear ribonucleoprotein (tri-snRNP) complex of the spliceosome stand out, because mutations in four genes cause RP, i.e., RP9 (PAP1), RP11 (PRPF31), RP13 (PRPF8), and RP18 (PRPF3), while there is no degeneration outside the retina despite global expression of these genes.
|
18334927 |
2008 |
|
Retinitis Pigmentosa
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Phenotypic expression of a PRPF8 gene mutation in a Large African American family.
|
18695108 |
2008 |
|
Retinitis Pigmentosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our results implicate the transition between the first and second catalytic steps as a critical place in the splicing cycle where Prp8-RP mutants influence splicing efficiency.
|
26968627 |
2016 |
|
Retinitis Pigmentosa
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
The aim of this study was to use lymphoblast cell lines derived from RP patients to determine whether mutations in two of these splicing factors, PRPF8 and PRPF31, cause measurable deficiencies in pre-mRNA splicing.
|
19096719 |
2008 |
|
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 |
BEFREE |
We further found that PRPF8 mutants causing Retinitis pigmentosa assemble less efficiently with the U5 snRNP and bind more strongly to R2TP, with one mutant retained in the cytoplasm in an R2TP-dependent manner.
|
28515276 |
2017 |
|
Retinitis Pigmentosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Although it is ubiquitously expressed, mutations in the C terminus of human Prp8p cause the retina-specific disease retinitis pigmentosa (RP).
|
17934474 |
2007 |
|
Retinitis Pigmentosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ubiquitously expressed pre-mRNA processing factors 3, 8, and 31 (PRPF3, PRPF8, and PRPF31) cause nonsyndromic dominant retinitis pigmentosa in humans, an inherited retinal degeneration.
|
25111227 |
2014 |
|
Retinitis Pigmentosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Although these spliceosomal proteins are conserved in eukaryotes and are essential for survival, heterozygous mutations in human RP-PRPF genes lead to retinitis pigmentosa, a hereditary disease restricted to the eye.
|
21378395 |
2011 |
|
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 |
CLINVAR |
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).
|
11468273 |
2001 |
|
Retinitis Pigmentosa
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Notably, U4/U6 unwinding activity is not stimulated by fragments carrying alleles of prp8 that in humans confers an autosomal dominant form of retinitis pigmentosa.
|
19098916 |
2009 |
|
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 |
|
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 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We investigated (CAG)n expansions as a cause of disease in a panel of eight autosomal dominant retinitis pigmentosa (ADRP) pedigrees, including families known to map to the RP9, RP11, and RP13 loci, using the technique known as "repeat expansion detection" (RED).
|
9039989 |
1997 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p.
|
8782056 |
1996 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Several ubiquitously expressed genes encoding pre-mRNA splicing factors have been associated with autosomal dominant retinitis pigmentosa (adRP), including PRPF31, PRPF3 and PRPF8.
|
17350276 |
2007 |