Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa - Tucker, Budd A; Scheetz, Todd E; Mullins, Robert F; DeLuca, Adam P; Hoffmann, Jeremy M; Johnston, Rebecca M; Jacobson, Samuel G; Sheffield, Val C; Stone, Edwin M (Proceedings of the National Academy of Sciences - PNAS, 2011)
Keywords: Alternative splicing; Alu Elements - genetics; Amino Acid Sequence; ancestry; Apoptosis; Axons; Biological Sciences; Biomarkers - metabolism; Cell body; Cell Differentiation; Cilia - genetics; Cones; cones (retina); death; Donors; Exons; Exons - genetics; Eye diseases; Genealogy and Heraldry; genes; Humans; Immunohistochemistry; induced pluripotent stem cells; Induced Pluripotent Stem Cells - metabolism; Insertion; Isoenzymes - metabolism; Jews; Jews - genetics; Kinases; Molecular Sequence Data; Mutagenesis, Insertional - genetics; Mutation; Organ Specificity; Pathogenicity; Pathogens; patients; Photoreceptors; PNAS Plus; Point Mutation - genetics; Protein Serine-Threonine Kinases - chemistry; Protein Serine-Threonine Kinases - genetics; Retina; Retinal Cone Photoreceptor Cells - enzymology; Retinal Cone Photoreceptor Cells - pathology; Retinal Degeneration - complications; Retinal Degeneration - enzymology; Retinal Rod Photoreceptor Cells - enzymology; Retinal Rod Photoreceptor Cells - pathology; Retinitis pigmentosa; Retinitis Pigmentosa - complications; Retinitis Pigmentosa - enzymology; Retinitis Pigmentosa - genetics; screening; sequence analysis; Sequence Analysis, DNA; Skin; Stem cells; Transcription