Retinitis Pigmentosa 4
|
0.910 |
Biomarker
|
disease |
BEFREE |
The results broaden our understanding of rhodopsin's conformational flexibility and enable therapeutic drug intervention against rhodopsin-related retinitis pigmentosa.
|
29555765 |
2018 |
Retinitis Pigmentosa 4
|
0.910 |
Biomarker
|
disease |
MGD |
Mouse models of human ocular disease for translational research.
|
28859131 |
2017 |
Retinitis Pigmentosa 4
|
0.910 |
Biomarker
|
disease |
MGD |
Mice with a D190N mutation in the gene encoding rhodopsin: a model for human autosomal-dominant retinitis pigmentosa.
|
22252712 |
2012 |
Retinitis Pigmentosa 4
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
Next-generation genetic testing for retinitis pigmentosa.
|
22334370 |
2012 |
Retinitis Pigmentosa 4
|
0.910 |
Biomarker
|
disease |
MGD |
Mislocalization and degradation of human P23H-rhodopsin-GFP in a knockin mouse model of retinitis pigmentosa.
|
22110080 |
2011 |
Retinitis Pigmentosa 4
|
0.910 |
Biomarker
|
disease |
MGD |
Probing mechanisms of photoreceptor degeneration in a new mouse model of the common form of autosomal dominant retinitis pigmentosa due to P23H opsin mutations.
|
21224384 |
2011 |
Retinitis Pigmentosa 4
|
0.910 |
Biomarker
|
disease |
MGD |
Severe retinal degeneration caused by a novel rhodopsin mutation.
|
19741247 |
2010 |
Retinitis Pigmentosa 4
|
0.910 |
Biomarker
|
disease |
MGD |
Mutations of the opsin gene (Y102H and I307N) lead to light-induced degeneration of photoreceptors and constitutive activation of phototransduction in mice.
|
20207741 |
2010 |
Retinitis Pigmentosa 4
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
A dual role for EDEM1 in the processing of rod opsin.
|
19934218 |
2009 |
Retinitis Pigmentosa 4
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.
|
19960070 |
2009 |
Retinitis Pigmentosa 4
|
0.910 |
Biomarker
|
disease |
MGD |
Defective development of photoreceptor membranes in a mouse model of recessive retinal degeneration.
|
16979686 |
2006 |
Retinitis Pigmentosa 4
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal dominant retinitis pigmentosa.
|
12566452 |
2003 |
Retinitis Pigmentosa 4
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
Rhodopsin mutation G109R in a family with autosomal dominant retinitis pigmentosa.
|
9452035 |
1998 |
Retinitis Pigmentosa 4
|
0.910 |
Biomarker
|
disease |
MGD |
Retinopathy induced in mice by targeted disruption of the rhodopsin gene.
|
9020854 |
1997 |
Retinitis Pigmentosa 4
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.
|
8554077 |
1996 |
Retinitis Pigmentosa 4
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347.
|
7633434 |
1995 |
Retinitis Pigmentosa 4
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
Autosomal dominant retinitis pigmentosa in a large family: a clinical and molecular genetic study.
|
8045708 |
1994 |
Retinitis Pigmentosa 4
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa.
|
8081400 |
1994 |
Retinitis Pigmentosa 4
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa.
|
7981701 |
1994 |
Retinitis Pigmentosa 4
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.
|
8088850 |
1994 |
Retinitis Pigmentosa 4
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa.
|
8076945 |
1994 |
Retinitis Pigmentosa 4
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa.
|
7987326 |
1994 |
Retinitis Pigmentosa 4
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.
|
7987331 |
1994 |
Retinitis Pigmentosa 4
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin.
|
8317502 |
1993 |
Retinitis Pigmentosa 4
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin.
|
8353500 |
1993 |