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Article

Transcriptional complexity in autosomal recessive polycystic kidney disease.

Clinical journal of the American Society of Nephrology : CJASN - 7 Oct 2014

Frank Valeska, Zerres Klaus, Bergmann Carsten

Abstract excerpt

BACKGROUND AND OBJECTIVES: Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 gene. The longest open reading frame comprises 66 exons encoding polyductin or fibrocystin, a type I transmembrane protein with 4074 amino acids. Functional investigations are considerably hampered by its large size and lack of expression in tissues that are usually available for analysis such as...

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Identifiers

PMID: 25104275
DOI: 10.2215/CJN.00920114
PMCID: PMC4186505

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.

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