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Apr 21, 2016
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
Targeted next-generation sequencing (NGS) has been demonstrated to be an effective strategy for the detection of mutations in RP.
Oct 14, 2010
Cell-specific differences in the processing of the R14W CA4 mutant associated with retinitis pigmentosa 17
The RP17 form of [RP] is caused by an arginine to tryptophan (R14W) mutation in the signal sequence of carbonic anhydrase IV (CAIV).
Mar 3, 2009
Pathogenesis of RP associated with apoptosis-inducing mutations in CA4
Apoptosis induced by the CA4 mutants could be prevented, at least partially, by treating the cells with dorzolamide, a CA inhibitor.
Dec 24, 2007
Genotyping and CA4 gene analysis in a Chinese family with retinitis pigmentosa
To illuminate pathogenic gene and mutation in a Chinese family with autosomal dominant retinitis pigmentosa
Aug 30, 2007
Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa
Novel mutation identified in CA4 that provides further evidence that impaired pH regulation may underlie photoreceptor degeneration in RP17.
Jan 14, 2005
Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration
Abstract Retina and retinal pigment epithelium (RPE) belong to the metabolically most active tissues in the human body. Efficient removal...
Aug 17, 2004
Chemical chaperones protect from effects of apoptosis-inducing mutation in carbonic anhydrase IV identified in retinitis pigmentosa 17
Giuseppe Bonapace, Abdul Waheed, Gul N Shah, William S Sly | Proc National Academy Science  | 2004 Aug 17 | Vol. 101, Issue 33 | 12300-5...
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