|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly).
|
29630435 |
2018 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
Biomarker
|
disease |
BEFREE |
Finally, our study unravels unexpected opposing roles of per<sup>WT</sup> and Rom-1 in rod OS targeting of adRP-linked peripherin-2 mutants and suggests a new treatment strategy for the affected individuals.
|
28539581 |
2017 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
Biomarker
|
disease |
BEFREE |
PRPH2 was screened by Sanger sequencing in a cohort of 310 French families with adRP.
|
25447119 |
2015 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
While rod-dominant diseases, such as autosomal dominant retinitis pigmentosa, are thought to arise due to haploinsufficiency caused by loss-of-function mutations, the mechanisms underlying PRPH2-associated cone-dominant diseases are unclear.
|
24463884 |
2014 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
Biomarker
|
disease |
BEFREE |
To devise an effective method for detecting mutations in 12 genes (CA4, CRX, IMPDH1, NR2E3, RP9, PRPF3, PRPF8, PRPF31, PRPH2, RHO, RP1, and TOPORS) commonly associated with autosomal dominant retinitis pigmentosa (adRP) that account for more than 95% of known mutations.
|
23559859 |
2013 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Molecular screening of rhodopsin and peripherin/RDS genes in Mexican families with autosomal dominant retinitis pigmentosa.
|
19958124 |
2009 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Probands from each family were screened for mutations in 13 genes known to cause adRP: CA4, CRX, FSCN2, IMPDH1, NRL, PRPF3 (RP18), PRPF8 (RP13), PRPF31 (RP11), RDS, RHO, ROM1, RP1, and RP9.
|
16799052 |
2006 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
Biomarker
|
disease |
BEFREE |
Analysis of gene prevalences indicates that the relative involvement of the RHO and the RDS genes in the pathogenesis of ADRP is less in Italy than in US and UK populations.
|
15994872 |
2005 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human RDS gene are responsible for several forms of inherited blindness including autosomal-dominant retinitis pigmentosa and macular degeneration.
|
10704489 |
2000 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
Biomarker
|
disease |
BEFREE |
To the best of our knowledge, no peripherin/RDS gene analysis has been previously reported in ADRP in France.
|
9673478 |
1998 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The frequency of mutations found in the Swedish patient group indicates that defects in the peripherin/RDS gene might be a more common cause of autosomal dominant retinitis pigmentosa than was thought previously.
|
10193525 |
1998 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant retinitis pigmentosa (adRP) has thus far been associated with eight distinct loci, including the rhodopsin and peripherin/RDS genes as well as unidentified genes on chromosomes 7p, 7q, 8q, 17p, 17q, and 19q.
|
8723719 |
1996 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
Biomarker
|
disease |
BEFREE |
Linkage to the UCLA-RP09 disease gene was excluded for all eight candidate genes analyzed, including rhodopsin (RP4) and peripherin/RDS (RP7), for the four adRP loci RP1, RP9, RP10 and RP11, as well as for 17 phenotypic markers.
|
8571961 |
1996 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the peripherin/retinal degeneration slow (RDS) gene have been reported in autosomal dominant retinitis pigmentosa and variable forms of pattern dystrophy of the retinal pigment epithelium.
|
8823597 |
1996 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In members of this family, both autosomal dominant RP and pattern dystrophy were associated with a Pro216Ser mutation in the peripherin/RDS gene.
|
7754251 |
1995 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The authors report a study of polymorphisms in the peripherin-RDS gene in 21 Spanish families affected with Autosomal Dominant Retinitis Pigmentosa and 56 unrelated normal individuals.
|
8629810 |
1995 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
Biomarker
|
disease |
BEFREE |
To examine the role of ROM1, a homologue of peripherin/RDS, in autosomal dominant retinitis pigmentosa (adRP), we screened 224 adRP and 29 simplex RP probands for ROM1 mutations.
|
8595413 |
1995 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Ocular findings associated with a 3 base pair deletion in the peripherin-RDS gene in autosomal dominant retinitis pigmentosa.
|
7848979 |
1994 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We studied the ocular findings in eight members of a Japanese family with autosomal dominant retinitis pigmentosa and cytosine-to-adenine transversion at the third nucleotide in codon 244 of the peripherin/RDS gene.
|
7993211 |
1994 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations in the retinal degeneration slow (rds) gene which codes for peripherin-rds have been implicated as a cause of autosomal dominant retinitis pigmentosa.
|
8302543 |
1994 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A previously undescribed mutation in the peripherin/rds gene is responsible for an autosomal dominant retinitis pigmentosa phenotype.
|
8058286 |
1994 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These results, together with the observation that a recessive nonsense mutation in the Drosophila opsin gene causes photoreceptor degeneration, prompted an extensive search for the alterations in the human rhodopsin and peripherin/RDS genes in families with autosomal dominant retinitis pigmentosa.
|
7747760 |
1994 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the peripherin/RDS gene have been reported in autosomal dominant retinitis pigmentosa, pattern macular dystrophy, and retinitis punctata albescens.
|
8240110 |
1993 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel Cys-214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa.
|
8244346 |
1993 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the RDS gene have recently been implicated in autosomal dominant retinitis pigmentosa (adRP) in some families.
|
1301931 |
1992 |