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Article

Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies.

Clinical journal of the American Society of Nephrology : CJASN - 8 May 2021

Lanktree Matthew B, Haghighi Amirreza, di Bari Ighli, Song Xuewen, Pei York

Abstract excerpt

Autosomal dominant polycystic kidney disease is the most common monogenic cause of ESKD. Genetic studies from patients and animal models have informed disease pathobiology and strongly support a "threshold model" in which cyst formation is triggered by reduced functional polycystin dosage below a critical threshold within individual tubular epithelial cells due to (1) germline and somatic PKD1 and/or PKD2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32690722
DOI: 10.2215/CJN.02320220
PMCID: PMC8259493

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