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

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

Human molecular genetics - 1 Mar 1999

Koptides M, Hadjimichael C, Koupepidou P, Pierides A, Constantinou Deltas C

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in one of three genes: PKD1 on chromosome 16 accounts for approximately 85% of cases whereas PKD2 on chromosome 4 accounts for approximately 15%. Mutations in the PKD3 gene are rare. All patients present with similar clinical phenotypes, and the cardinal symptom is the formation of fluid-filled cysts in the kidneys. Previous work has...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Base Sequence
Share to DNA

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Germ-Line Mutation

Share to Membrane Proteins

Share to Mutation

Share to Pedigree

Share to Polymorphism, Single-Stranded Conformational

Source

Identifiers

PMID: 9949210
DOI: 10.1093/hmg/8.3.509

Genes

PKD2
PKD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease.PMID 9949210Read ↗

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 ↗

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

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

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

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

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

Somatic inactivation of Pkd2 results in polycystic kidney disease.Semantic proximity Read ↗

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

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

Molecular genetics of polycystic kidney disease.Semantic proximity Read ↗

Molecular genetics and pathogenesis of autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

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