Polycystic kidney disease, type 2

Known as: Polycystic Kidney, Type 2 Autosomal Dominant Disease, APKD2, Polycystic Kidney Disease 2 
Type 2 ADPKD is linked to gene mutation at the PKD2 locus on the long arm of CHROMOSOME 4.
National Institutes of Health

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KidneyPKD2 genePolycystic Kidney, Autosomal DominantUrinary system

Papers overview

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Highly Cited
2012
Highly Cited
2012
Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.
Mutations in two large multi-exon genes, PKD1 and PKD2, cause autosomal dominant polycystic kidney disease (ADPKD). The… (More)
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Highly Cited
2009
Highly Cited
2009
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.
Autosomal dominant polycystic kidney disease (ADPKD) caused by mutations in PKD1 is significantly more severe than PKD2… (More)
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Highly Cited
2007
Highly Cited
2007
Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.
Mutation-based molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD) is complicated by genetic and… (More)
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Highly Cited
2004
Highly Cited
2004
Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease.
Autosomal dominant polycystic kidney disease (ADPKD) is a major cause of renal failure and is characterized by the formation of… (More)
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Highly Cited
2003
Highly Cited
2003
Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.
Autosomal dominant polycystic kidney disease (ADPKD) is a common Mendelian disorder that affects approximately 1 in 1000 live… (More)
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Highly Cited
2001
Highly Cited
2001
Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease.
In searching for a putative third gene for autosomal dominant polycystic kidney disease (ADPKD), we studied the genetic… (More)
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Highly Cited
2000
Highly Cited
2000
The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton.
Despite the recent positional cloning of the PKD1 and PKD2 genes, which are mutated in the great majority of patients with… (More)
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Highly Cited
1999
Highly Cited
1999
A polycystic kidney-disease gene homologue required for male mating behaviour in C. elegans
The stereotyped mating behaviour of the Caenorhabditis elegans male is made up of several substeps: response, backing, turning… (More)
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1999
1999
A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2.
Autosomal dominant polycystic kidney disease (ADPKD) is genetically heterogeneous, with at least three chromosomal loci (PKD1… (More)
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Highly Cited
1998
Highly Cited
1998
Somatic Inactivation of Pkd2 Results in Polycystic Kidney Disease
Germline mutations in PKD2 cause autosomal dominant polycystic kidney disease. We have introduced a mutant exon 1 in tandem with… (More)
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