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    Pediatr Nephrol. 2006 Oct;21(10):1369-76. Epub 2006 Jul 6.

    Renal cystic diseases: diverse phenotypes converge on the cilium/centrosome complex.

    Source

    Departments of Medicine, Pediatrics, and Genetics, Division of Genetic and Translational Medicine, University of Alabama at Birmingham, 1530 3rd Avenue South 19th Street, Birmingham, AL 35294, USA. lgw@uab.edu

    Abstract

    Inherited renal cystic diseases constitute an important set of single-gene disorders that frequently progress to end stage renal disease (ESRD). Transmitted as autosomal dominant, autosomal recessive, or X-linked traits, renal cystic diseases are phenotypically diverse with respect to age at onset, rate of disease progression, and associated extra-renal manifestations. These disorders involve defects in a set of gene products commonly referred to as cystoproteins that, while functionally distinct, appear to co-localize, at least in part, with the cilia/centrosome complex. Therefore, investigations are increasingly focused on the role of this complex in the pathogenesis of renal cystic disease. Sorting out the functional relationship between these cystoproteins and the cilia/centrosome complex will undoubtedly provide a better understanding of renal cystic disease pathogenesis and, potentially, identify new targets for therapeutic intervention.

    PMID:
    16823577
    [PubMed - indexed for MEDLINE]

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