Associated Papers
Clinical and genetic investigations in Chinese families with retinitis pigmentosa.
Chen L et al.
Experimental Biology and Medicine (maywood, N.j.), 2022
Autosomal dominant retinitis pigmentosa with toxic gain of function: Mechanisms and therapeutics.
Narasimhan I et al.
European Journal of Ophthalmology, 2021
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
de Bruijn SE et al.
American Journal of Human Genetics, 2020
33022222 (PubMed )
Supplement: mmc1.pdf
Screening for the carbonic anhydrase IV gene mutations in Chinese retinitis pigmentosa patients.
Tian Y et al.
Current Eye Research, 2010
Progressive renal injury from transgenic expression of human carbonic anhydrase IV folding mutants is enhanced by deficiency of p58IPK.
Datta R et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010
Pathogenesis of retinitis pigmentosa associated with apoptosis-inducing mutations in carbonic anhydrase IV.
Datta R et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File011.xls › TypeI_
Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa.
Alvarez BV et al.
Investigative Ophthalmology & Visual Science, 2007
Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.
Yang Z et al.
Human Molecular Genetics, 2005
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