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Article

Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1.

Journal of molecular medicine (Berlin, Germany) - 1 Oct 2014

Boddu Ravindra, Yang Chaozhe, O'Connor Amber K, Hendrickson Robert Curtis, Boone Braden, Cui Xiangqin, Garcia-Gonzalez Miguel, Igarashi Peter, Onuchic Luiz F, Germino Gregory G, Guay-Woodford Lisa M

Abstract excerpt

Autosomal recessive polycystic kidney disease (ARPKD) results from mutations in the human PKHD1 gene. Both this gene, and its mouse ortholog, Pkhd1, are primarily expressed in renal and biliary ductal structures. The mouse protein product, fibrocystin/polyductin complex (FPC), is a 445-kDa protein encoded by a 67-exon transcript that spans >500 kb of genomic DNA. In the current study, we observed multiple...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24984783
DOI: 10.1007/s00109-014-1185-7
PMCID: PMC4197071

Genes

PKHD1

Variants

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.

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