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- W2748106429 abstract "Mutant O377 contain a 57 bp insertion at the beginning of exon 6 of Crybb2 that leads to a 19aa insertion in the protein. The animals develop dominant progressive hereditary cataract as a result of the misfolded protein. βB2-crystallin is also expressed in the retina and in the brain, particularly in the glomerular and mitral cells of the olfactory bulb; pyramidal cells of the cortex; CAI, CAII, CAIII(CA= Cornu ammonis) region cells and dentate gyrus of the hippocampus; and Purkinje and stellate cells of the cerebellum apart from lens. The numbers of Purkinje cells are higher (11%) in the homozygous mutant brain. Most of the differentially expressed genes in homozygous and heterozygous mutant brains are involved in phosphate and calcium pathways. Non-lenticular expression coupled with the findings at histological and molecular levels in the O377 mutant brain suggest the non-refractive function of βB2-crystallin to be in phosphate and calcium homeostasis." @default.
- W2748106429 created "2017-08-31" @default.
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- W2748106429 date "2005-01-01" @default.
- W2748106429 modified "2023-09-24" @default.
- W2748106429 title "Molecular analysis of the βB2-crystallin gene (Crybb2) in mouse eye and brain of the wild-type and O377 mutant" @default.
- W2748106429 hasPublicationYear "2005" @default.
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