Retinitis Pigmentosa 17
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Cell-specific differences in the processing of the R14W CAIV mutant associated with retinitis pigmentosa 17.
|
20626030 |
2010 |
Retinitis Pigmentosa 17
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
Screening for the carbonic anhydrase IV gene mutations in Chinese retinitis pigmentosa patients.
|
20450258 |
2010 |
Retinitis Pigmentosa 17
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations in the carbonic anhydrase IV (CA IV) gene have been identified in patients with an autosomal dominant form of retinitis pigmentosa (RP17).
|
19211803 |
2009 |
Retinitis Pigmentosa 17
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa.
|
17652713 |
2007 |
Retinitis Pigmentosa 17
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.
|
15563508 |
2005 |
Retinitis Pigmentosa 17
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.
|
15090652 |
2004 |
Retinitis Pigmentosa 17
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Chemical chaperones protect from effects of apoptosis-inducing mutation in carbonic anhydrase IV identified in retinitis pigmentosa 17.
|
15295099 |
2004 |
Retinitis Pigmentosa 17
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Finally, a possible link to the retinitis pigmentosa 17 allele (RP17) at distal 17q was excluded by demonstration of multiple independent segregation events in two RP17 kindreds.
|
10783262 |
2000 |
Retinitis Pigmentosa 17
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Retinitis Pigmentosa 17
|
0.740 |
Biomarker
|
disease |
CTD_human |
|
|
|
Retinitis Pigmentosa 17
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Retinitis Pigmentosa
|
0.470 |
AlteredExpression
|
disease |
BEFREE |
The results suggest that the expression level of CA IV may be important to maintain retina function in RP.
|
20450258 |
2010 |
Retinitis Pigmentosa
|
0.470 |
GeneticVariation
|
disease |
BEFREE |
Pathogenesis of retinitis pigmentosa associated with apoptosis-inducing mutations in carbonic anhydrase IV.
|
19211803 |
2009 |
Retinitis Pigmentosa
|
0.470 |
GeneticVariation
|
disease |
LHGDN |
Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa.
|
17652713 |
2007 |
Retinitis Pigmentosa
|
0.470 |
GeneticVariation
|
disease |
BEFREE |
Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa.
|
17652713 |
2007 |
Retinitis Pigmentosa
|
0.470 |
CausalMutation
|
disease |
CLINVAR |
Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.
|
15563508 |
2005 |
Retinitis Pigmentosa
|
0.470 |
GeneticVariation
|
disease |
BEFREE |
Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.
|
15090652 |
2004 |
Retinitis Pigmentosa
|
0.470 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.
|
15090652 |
2004 |
Retinitis Pigmentosa
|
0.470 |
GeneticVariation
|
disease |
BEFREE |
These experiments suggest a promising approach to treatment of RP17 that might delay the onset or possibly prevent this autosomal dominant form of RP.
|
15295099 |
2004 |
Retinitis Pigmentosa
|
0.470 |
CausalMutation
|
disease |
CLINVAR |
Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.
|
15090652 |
2004 |
Retinitis Pigmentosa
|
0.470 |
GeneticVariation
|
disease |
LHGDN |
Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.
|
15090652 |
2004 |
Retinitis Pigmentosa
|
0.470 |
GeneticVariation
|
disease |
BEFREE |
In order to determine the prevalence of rhodopsin alterations in southern French populations, we examined 52 unrelated patients/families with autosomal dominant RP (adRP=29), RP simplex (6), or unclassified RP (17).
|
10521250 |
1999 |
Retinitis Pigmentosa
|
0.470 |
GeneticVariation
|
disease |
BEFREE |
Retinitis pigmentosa locus on 17q (RP17): fine localization to 17q22 and exclusion of the PDEG and TIMP2 genes.
|
9385361 |
1997 |
Disorder of eye
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.
|
15090652 |
2004 |
Disorder of eye
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|