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

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

Cell - 13 Dec 1996

Qian F, Watnick T J, Onuchic L F, Germino G G

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD) is a common disease and an important cause of renal failure. It is characterized by considerable intrafamilial phenotypic variation and focal cyst formation. To elucidate the molecular basis for these observations, we have developed a novel method for isolating renal cystic epithelia from single cysts and have used it to show that individual renal cysts in...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Genetic Markers
Share to Haplotypes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Molecular Sequence Data

Share to Mutation

Share to Pedigree

Share to Restriction Mapping

Source

Identifiers

PMID: 8978603
DOI: 10.1016/s0092-8674(00)81793-6

Genes

PKD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I.PMID 8978603Read ↗

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

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 ↗

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 ↗

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

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

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

Variable Cyst Development in Autosomal Dominant Polycystic Kidney Disease: The Biologic ContextSemantic 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 ↗

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

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