|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Rhodopsin (RHO) and peripherin/RDS are the two most common mutated genes in AD RP in several series.
|
19958124 |
2009 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To describe an Italian family in which two separate phenotypes (retinitis pigmentosa and adult onset vitelliform macular dystrophy) are associated with an identical mutation (S212G) in the peripherin/RDS gene.
|
18050133 |
2008 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A high frequency (23%) of mutations in the peripherin/RDS gene was found in a cohort of 61 unrelated patients with various types of autosomal dominant central retinal dystrophies as compared with a low prevalence (1.3%) of mutations in this gene causing retinitis pigmentosa in a Spanish population.
|
17653047 |
2007 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation (Pro210Leu) of the peripherin/RDS gene has been found in one Japanese patient with retinitis pigmentosa.
|
11485765 |
2001 |
|
Retinitis Pigmentosa
|
0.100 |
Biomarker
|
disease |
BEFREE |
In previous efforts to identify the erd locus, canine homologs of genes causally associated with RP in humans, such as opsin (RHO), the beta-subunit gene for cyclic GMP phosphodiesterase (PDE6B), and RDS/peripherin, were excluded.
|
10409424 |
1999 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To measure the proportion of cases of retinitis pigmentosa (RP) caused by mutations in the peripherin/RDS (RDS) and ROM1 genes.
|
9331261 |
1997 |
|
Retinitis Pigmentosa
|
0.100 |
Biomarker
|
disease |
BEFREE |
Although most disease phenotypes appear to result from defects at single genetic loci (monogenic), at least one instance of RP appears to require a coinheritance of defects in the unlinked peripherin/rds and rom-1 alleles (digenic), which encode the polypeptide subunits of an oligomeric transmembrane protein complex present at photoreceptor outer segment disc rims.
|
8943002 |
1996 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A 46-year-old man with retinitis pigmentosa was found to have a heterozygous mutation in the peripherin/RDS gene (arginine-46-stop).
|
7825692 |
1995 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the peripherin/retinal degeneration slow (RDS) gene have been identified in patients with retinitis pigmentosa and pattern macular dystrophy.
|
7862413 |
1995 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Retinitis pigmentosa (RP) is a group of genetically and clinically heterogeneous retinopathies, some of which have been shown to result from mutations in two different known retinal genes, rhodopsin (3q) and peripherin-rds (6p).
|
7951236 |
1994 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this paper, we report a test of the hypothesis that photoreceptor cell death occurs by an apoptotic mechanism in three mouse models of RP: retinal degeneration slow (rds) caused by a peripherin mutation, retinal degeneration (rd) caused by a defect in cGMP phosphodiesterase, and transgenic mice carrying a rhodopsin Q344ter mutation responsible for autosomal dominant RP.
|
8302876 |
1994 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To investigate functional abnormalities in mutations in the peripherin (RDS) gene leading to different clinical types of autosomal dominant retinal disease--macular degeneration and retinitis pigmentosa.
|
8045710 |
1994 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These findings demonstrate that both retinitis pigmentosa and macular dystrophies are caused by mutations in RDS and that the functional significance of certain amino-acids in peripherin-RDS may be different in cones and rods.
|
8485576 |
1993 |
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This deletion segregates with the disease phenotype but is not present in unaffected controls, and suggests that mutant peripherin gives rise to retinitis pigmentosa.
|
1749427 |
1991 |