Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Clinical and genetic investigations in Chinese families with retinitis pigmentosa.
Chen L et al.
Experimental Biology and Medicine (maywood, N.j.), 2022
Common Polymorphism That Protects From Cardiovascular Disease Increases Fibronectin Processing and Secretion.
Soubeyrand S et al.
Circulation. Genomic and Precision Medicine, 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
Retinitis pigmentosa: genes and disease mechanisms.
Ferrari S et al.
Current Genomics, 2011
Cell-specific differences in the processing of the R14W CAIV mutant associated with retinitis pigmentosa 17.
Pandor A et al.
Journal of Cellular Biochemistry, 2010
[Databases for mutations in human diseases].
Minoshima S et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2010
KMeyeDB: a graphical database of mutations in genes that cause eye diseases.
Kawamura T et al.
Human Mutation, 2010
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
Mutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern Sweden.
Golovleva I et al.
Advances in Experimental Medicine and Biology, 2010
Protection of photoreceptors in a mouse model of RP10.
Tam LC et al.
Advances in Experimental Medicine and Biology, 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
Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1.
Köhn L et al.
Investigative Ophthalmology & Visual Science, 2008
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
Chemical chaperones protect from effects of apoptosis-inducing mutation in carbonic anhydrase IV identified in retinitis pigmentosa 17.
Bonapace G et al.
Proceedings of the National Academy of Sciences of the United States of America, 2004
Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.
Rebello G et al.
Proceedings of the National Academy of Sciences of the United States of America, 2004
Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26.
Burstedt MS et al.
Investigative Ophthalmology & Visual Science, 1999