TY - JOUR T1 - Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration. JF - PLoS Genet Y1 - 2012 A1 - Mahajan, Vinit B A1 - Skeie, Jessica M A1 - Bassuk, Alexander G A1 - Fingert, John H A1 - Braun, Terry A A1 - Daggett, Heather T A1 - Folk, James C A1 - Sheffield, Val C A1 - Stone, Edwin M KW - Amino Acid Sequence KW - Base Sequence KW - Calpain KW - Cell Line KW - Cells, Cultured KW - Choroid Diseases KW - Exome KW - Exons KW - Eye Diseases, Hereditary KW - Female KW - Gene Expression KW - Genetic Linkage KW - Humans KW - Male KW - Models, Molecular KW - Molecular Sequence Data KW - Mutation KW - Pedigree KW - Phenotype KW - Photoreceptor Cells, Vertebrate KW - Protein Conformation KW - Protein Transport KW - Retinal Degeneration KW - Sequence Alignment AB -

Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is an autoimmune condition of the eye that sequentially mimics uveitis, retinitis pigmentosa, and proliferative diabetic retinopathy as it progresses to complete blindness. We identified two different missense mutations in the CAPN5 gene in three ADNIV kindreds. CAPN5 encodes calpain-5, a calcium-activated cysteine protease that is expressed in retinal photoreceptor cells. Both mutations cause mislocalization from the cell membrane to the cytosol, and structural modeling reveals that both mutations lie within a calcium-sensitive domain near the active site. CAPN5 is only the second member of the large calpain gene family to cause a human Mendelian disorder, and this is the first report of a specific molecular cause for autoimmune eye disease. Further investigation of these mutations is likely to provide insight into the pathophysiologic mechanisms of common diseases ranging from autoimmune disorders to diabetic retinopathy.

VL - 8 IS - 10 ER - TY - JOUR T1 - Microarray analysis of corneal fibroblast gene expression after interleukin-1 treatment. JF - Investigative ophthalmology & visual science Y1 - 2002 A1 - Mahajan, Vinit B A1 - Wei, Cui A1 - McDonnell, Peter J KW - Cells, Cultured KW - Computational Biology KW - Cornea KW - Eye Proteins KW - Fibroblasts KW - Gene Expression KW - Gene Expression Profiling KW - Humans KW - Interleukin-1 KW - Oligonucleotide Array Sequence Analysis KW - RNA AB -

To identify changes in gene expression in human corneal fibroblasts after exposure to interleukin-1alpha.

VL - 43 IS - 7 U1 - http://www.ncbi.nlm.nih.gov/pubmed/12091409?dopt=Abstract ER -