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  1. No Access

    Chapter and Conference Paper

    Underdeveloped RPE Apical Domain Underlies Lesion Formation in Canine Bestrophinopathies

    Canine bestrophinopathy (cBest) is an important translational model for BEST1-associated maculopathies in man that recapitulates the broad spectrum of clinical and molecular disease aspects observed in patients. ...

    Karina E. Guziewicz, Emily McTish, Valerie L. Dufour… in Retinal Degenerative Diseases (2018)

  2. Article

    Open Access

    Altered miRNA expression in canine retinas during normal development and in models of retinal degeneration

    Although more than 246 loci/genes are associated with inherited retinal diseases, the mechanistic events that link genetic mutations to photoreceptor cell death are poorly understood. miRNAs play a relevant ro...

    Sem Genini, Karina E Guziewicz, William A Beltran, Gustavo D Aguirre in BMC Genomics (2014)

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  3. No Access

    Chapter and Conference Paper

    Modeling the Structural Consequences of BEST1 Missense Mutations

    Mutations in the bestrophin-1 gene (BEST1) are an important cause of inherited retinal disorders. Hitherto, over 100 unique allelic variants have been linked to the human BEST1 (hBEST1), and associated with disea...

    Karina E. Guziewicz, Gustavo D. Aguirre, Barbara Zangerl in Retinal Degenerative Diseases (2012)