PKHD1, the Polycystic Kidney and Hepatic Disease 1 Gene, Encodes a Novel Large Protein Containing Multiple Immunoglobulin-Like Plexin-Transcription–Factor Domains and Parallel Beta-Helix 1 Repeats

2002/05/01 by Luiz F. Onuchic, Laszlo Furu, Yasuyuki Nagasawa +18 · 511 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #BETA (programming language) #Biology #Cancer research #Computer science #Gene #Gene expression #Genetic and Kidney Cyst Diseases #Genetics #Kidney #Microtubule and mitosis dynamics #PKD1 #Pancreatic function and diabetes #Polycystic kidney disease #Promoter #Transcription (linguistics) #Transcription factor

paper · pdf · doi:10.1086/340448

published in The American Journal of Human Genetics 70(5), 1305-1317 (Elsevier BV)

openalex publication_date 2002/05/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01

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• PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells. [europepmc]
• Polyductin undergoes notch-like processing and regulated release from primary cilia. [europepmc]
• Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway. [europepmc]
• Zebrafish mutations affecting cilia motility share similar cystic phenotypes and suggest a mechanism of cyst formation that differs from pkd2 morphants. [europepmc]
• Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function. [europepmc]
• Src inhibition ameliorates polycystic kidney disease. [europepmc]
• Polycystic kidney disease. [europepmc]
• MicroRNA15a modulates expression of the cell-cycle regulator Cdc25A and affects hepatic cystogenesis in a rat model of polycystic kidney disease. [europepmc]
• Characterization of PKD protein-positive exosome-like vesicles. [europepmc]
• Liver and kidney disease in ciliopathies. [europepmc]
• The cytoplasmic tail of fibrocystin contains a ciliary targeting sequence. [europepmc]
• Molecular advances in autosomal dominant polycystic kidney disease. [europepmc]
• Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease. [europepmc]
• Ciliopathies. [europepmc]
• Centrosomes and cilia in human disease. [europepmc]
• Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease. [europepmc]
• Regulation of transport in the connecting tubule and cortical collecting duct. [europepmc]
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• Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects. [europepmc]
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• Animal models of biliary injury and altered bile acid metabolism. [europepmc]
• Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses. [europepmc]
• Polycystic kidney disease. [europepmc]
• A human multi-lineage hepatic organoid model for liver fibrosis. [europepmc]