Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease.

Journal of the American Society of Nephrology : JASN - 1 Jul 1999

Pei Y, Watnick T, He N, Wang K, Liang Y, Parfrey P, Germino G, St George-Hyslop P

Abstract excerpt

An intriguing feature of autosomal dominant polycystic kidney disease (ADPKD) is the focal and sporadic formation of renal and extrarenal cysts. Recent documentation of somatic PKD1 mutations in cystic epithelia of patients with germ-line PKD1 mutations suggests a "two-hit" model for cystogenesis in type 1 ADPKD. This study tests whether the same mechanism for cystogenesis might also occur in type 2 ADPKD....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Epithelium
Share to Germ-Line Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Kidney

Share to Loss of Heterozygosity

Share to Parents

Share to Polycystic Kidney, Autosomal Dominant

Share to TRPP Cation Channels

Source

Identifiers

PMID: 10405208
DOI: 10.1681/ASN.V1071524

Genes

PKD2
PKD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease.PMID 10405208Read ↗

A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2.Semantic proximity Read ↗

Detection of PKD1 and PKD2 Somatic Variants in Autosomal Dominant Polycystic Kidney Cyst Epithelial Cells by Whole-Genome Sequencing.Semantic proximity Read ↗

Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney diseaseSemantic proximity Read ↗

Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I.Semantic proximity Read ↗

Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.Semantic proximity Read ↗

Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease.Semantic proximity Read ↗

A "two-hit" model of cystogenesis in autosomal dominant polycystic kidney disease?Semantic proximity Read ↗

Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human kidney cystsSemantic proximity Read ↗

Loss of heterozygosity in renal and hepatic epithelial cystic cells from ADPKD1 patients.Semantic proximity Read ↗

[Heterozygosity loss and somatic mutations in type I and II dominant autosomal renal polycystic kidney disease: evidence of a recessive mechanism at a cell level in cystogenesis].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.