Retinitis Pigmentosa
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
Retinitis Pigmentosa
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
Retinitis Pigmentosa
|
0.900 |
Biomarker
|
disease |
BEFREE |
Using the Pde6b <sup>rd10/rd10</sup> mouse model of RP, we investigated the effects of daily intraperitoneal administration of VP3.15, a small-molecule heterocyclic GSK-3 inhibitor.
|
29661219 |
2018 |
Retinitis Pigmentosa
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
To evaluate the progression of retinitis pigmentosa (RP) caused by mutations in either PDE6A or PDE6B by measuring the progressive constriction of the hyperautofluorescent ring and shortening of the ellipsoid zone (EZ)-line width.
|
30153077 |
2018 |
Retinitis Pigmentosa
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In particular, pharmacological activation of S1R was recently shown to rescue cones in the rd10 mouse, a rod Pde6b mutant that recapitulates the RP pathology of autonomous rod degeneration followed by secondary death of cones.
|
28927431 |
2017 |
Retinitis Pigmentosa
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We employed the rd10 mouse model (Pde6b <sup>rd10</sup> mutation) of retinitis pigmentosa (RP) to examine the involvement of BET proteins in retinal neurodegeneration.
|
28103888 |
2017 |
Retinitis Pigmentosa
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.
|
26497376 |
2015 |
Retinitis Pigmentosa
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
|
26667666 |
2015 |
Retinitis Pigmentosa
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F.
|
25823529 |
2015 |
Retinitis Pigmentosa
|
0.900 |
Biomarker
|
disease |
BEFREE |
Preclinical studies often rely on the retinal degeneration 1 (rd1 or Pde6b(rd1)) retinitis pigmentosa (RP) mouse model.
|
26283863 |
2015 |
Retinitis Pigmentosa
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
|
25097241 |
2014 |
Retinitis Pigmentosa
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The homozygous PDE6B mutation causes retinitis pigmentosa.
|
24828262 |
2014 |
Retinitis Pigmentosa
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
THE FAMILY WAS FOUND TO SEGREGATE NOVEL MUTATIONS OF TWO DIFFERENT GENES: myosin VIIA (MYO7A), which causes type 1 Usher syndrome, and phosphodiesterase 6B, cyclic guanosine monophosphate-specific, rod, beta (PDE6B), which causes nonsyndromic RP.
|
23882135 |
2013 |
Retinitis Pigmentosa
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Next-generation genetic testing for retinitis pigmentosa.
|
22334370 |
2012 |
Retinitis Pigmentosa
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
|
20591486 |
2010 |
Retinitis Pigmentosa
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
While Pde6b(rd1)/Pde6b(rd1) mice have severe photoreceptor degeneration, as in human RP, the H258N transgene rescued these cells.
|
17044014 |
2007 |
Retinitis Pigmentosa
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PDE6A and the PDE6B genes lead to autosomal recessive (ar) forms of retinitis pigmentosa (RP) in human and to the homologous disease in dogs, designated generalised progressive retinal atrophy (gPRA).
|
10782214 |
2000 |
Retinitis Pigmentosa
|
0.900 |
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
|
0.900 |
Biomarker
|
disease |
BEFREE |
In previous efforts to identify the genetic locus for prcd, the canine homologs for many of the genes causally associated with RP in humans, such as RHO, PDE6B, and RDS/peripherin, have been excluded.
|
9501213 |
1998 |
Retinitis Pigmentosa
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Using the PCR-SSCP method, sequencing analysis, and restriction endonuclease digestion assay, we analyzed the PDEB gene in 17 Japanese families with non-dominant retinitis pigmentosa.
|
9543643 |
1998 |
Retinitis Pigmentosa
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.
|
7724547 |
1995 |
Retinitis Pigmentosa
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.
|
7724547 |
1995 |
Retinitis Pigmentosa
|
0.900 |
Biomarker
|
disease |
CTD_human |
Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.
|
8394174 |
1993 |
Retinitis Pigmentosa
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.
|
8394174 |
1993 |
Retinitis Pigmentosa
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The finding of a mutation in the beta subunit of the cyclic GMP (cGMP) phosphodiesterase gene causing retinal degeneration in mice (the Pdeb gene) prompted a search for disease-causing mutations in the human phosphodiesterase gene (PDEB gene) in patients with retinitis pigmentosa.
|
1329504 |
1992 |