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

Molecular genetics of autosomal recessive polycystic kidney disease.

Molecular genetics and metabolism - 1 Feb 2004

Harris Peter C, Rossetti Sandro

Abstract excerpt

Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of inherited childhood nephropathy ( approximately 1:20,000 live births) characterized by fusiform dilatation of collecting ducts and congenital hepatic fibrosis. Up to 30% die as neonates due to respiratory insufficiency and the majority of surviving infants develop hypertension. Progression to end stage renal disease occurs in 20-45% of...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Mapping
Share to DNA Mutational Analysis
Share to Heterozygote

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

Share to Models, Molecular

Share to Polycystic Kidney, Autosomal Recessive

Share to Receptors, Cell Surface

Source

Identifiers

PMID: 14741187
DOI: 10.1016/j.ymgme.2003.10.010

Genes

PKHD1

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

Molecular genetics of autosomal recessive polycystic kidney disease.PMID 14741187Read ↗

The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.Semantic proximity Read ↗

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).Semantic proximity Read ↗

Recent advances in the molecular diagnosis of polycystic kidney diseaseSemantic proximity Read ↗

Genetics and Pathogenesis of Polycystic Kidney DiseaseSemantic proximity Read ↗

Molecular basis of polycystic kidney disease: PKD1, PKD2 and PKHD1.Semantic proximity Read ↗

Polycystic Kidney DiseaseSemantic proximity Read ↗

Genetic Spectrum of Polycystic Kidney and Liver Diseases and the Resulting Phenotypes.Semantic proximity Read ↗

Molecular basis of autosomal recessive polycystic kidney disease (ARPKD).Semantic proximity Read ↗

Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease.Semantic proximity Read ↗

Molecular and cellular pathogenesis of autosomal recessive polycystic kidney disease.Semantic proximity Read ↗

PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.Semantic proximity Read ↗

Fatal outcome of autosomal recessive polycystic kidney disease in neonates with recessive PKHD1 mutations.Semantic proximity Read ↗

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