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Article

Drosophila Pkd2 Is Haploid-insufficient for Mediating Optimal Smooth Muscle Contractility

26 Mar 2004

Abstract excerpt

Humans heterozygous for PKD1 or PKD2 develop autosomal dominant polycystic kidney disease, a common genetic disorder characterized by renal cyst formation and extrarenal complications such as hypertension and vascular aneurysms. Cyst formation requires the somatic inactivation of the wild type allele. However, it is unknown whether this recessive mechanism applies to life-threatening vascular aneurysms, which...

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PMID: 14732716
DOI: 10.1074/jbc.m312223200

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