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Glomerulocystic kidney disease.

ABSTRACT: Glomerulocystic disease is a rare renal cystic disease with a long descriptive history. Findings from recent studies have significantly advanced the pathophysiological understanding of the disease processes leading to this peculiar phenotype. Many genetic syndromes associated with glomerulocystic disease have had their respective proteins localized to primary cilia or centrosomes. Transcriptional control of renal developmental pathways is dysregulated in obstructive diseases that also lead to glomerulocystic disease, emphasizing the importance of transcriptional choreography between renal development and renal cystic disease.

SUBMITTER: Bissler JJ

PROVIDER: S-EPMC2923715 | biostudies-literature | 2010 Oct

REPOSITORIES: biostudies-literature

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Glomerulocystic kidney disease.

Bissler John J JJ Siroky Brian J BJ Yin Hong H

Pediatric nephrology (Berlin, Germany) 20100121 10

Glomerulocystic disease is a rare renal cystic disease with a long descriptive history. Findings from recent studies have significantly advanced the pathophysiological understanding of the disease processes leading to this peculiar phenotype. Many genetic syndromes associated with glomerulocystic disease have had their respective proteins localized to primary cilia or centrosomes. Transcriptional control of renal developmental pathways is dysregulated in obstructive diseases that also lead to gl ...[more]

PMID: 20091054

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