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

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

American journal of human genetics - 1 Aug 1999

Torra R, Badenas C, San Millán J L, Pérez-Oller L, Estivill X, Darnell A

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD) is genetically heterogeneous, with at least three chromosomal loci (PKD1, PKD2, and PKD3) that account for the disease. Mutations in the PKD2 gene, on the long arm of chromosome 4, are expected to be responsible for approximately 15% of cases of ADPKD. Although ADPKD is a systemic disease, it shows a focal expression, because <1% of nephrons become cystic. A...

Read the complete abstract on PubMed

Topics

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

Share to Germ-Line Mutation
Share to Kidney
Share to Loss of Heterozygosity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Polycystic Kidney, Autosomal Dominant

Share to Polymorphism, Single-Stranded Conformational

Share to Proteins

Share to Sequence Deletion

Share to TRPP Cation Channels

Source

Open in PubMed Open full text

Identifiers

PMID: 10417277
DOI: 10.1086/302501
PMCID: PMC1377933

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

A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2.PMID 10417277Read ↗

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

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 ↗

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

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

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

Molecular genetics and pathogenesis of 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 ↗

Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease.Semantic proximity Read ↗

Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on.Semantic proximity Read ↗

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