about
Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasmCyst infection in hospital-admitted autosomal dominant polycystic kidney disease patients is predominantly multifocal and associated with kidney and liver volumePolyductin undergoes notch-like processing and regulated release from primary ciliaFunctional Budd-Chiari Syndrome Associated With Severe Polycystic Liver Disease.Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1.Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12.PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).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.Immunohistochemical detection of polyductin and co-localization with liver progenitor cell markers during normal and abnormal development of the intrahepatic biliary system and in adult hepatobiliary carcinomas.Renal cyst growth is the main determinant for hypertension and concentrating deficit in Pkd1-deficient mice.Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway.Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1.Molecular and cellular pathogenesis of autosomal recessive polycystic kidney disease.Molecular and cellular pathogenesis of autosomal dominant polycystic kidney disease.Regulation of CFTR Expression and Arginine Vasopressin Activity Are Dependent on Polycystin-1 in Kidney-Derived Cells.Associations between OPG and RANKL polymorphisms, vertebral fractures, and abdominal aortic calcification in community-dwelling older subjects: the Sao Paulo Ageing & Health Study (SPAH).NEDD4-family E3 ligase dysfunction due to PKHD1/Pkhd1 defects suggests a mechanistic model for ARPKD pathobiology.Cardiac dysfunction in Pkd1-deficient mice with phenotype rescue by galectin-3 knockout.Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).Giant Renal Angiomyolipoma Following Ovarian Stimulation Therapy.Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene.Identification of a novel cytokine, ML-1, and its expression in subjects with asthma.Mechanisms of cell volume regulation in the proximal segment of the Malpighian tubule of Rhodnius neglectus.Female Patient with Alport Syndrome and Concomitant Membranous Nephropathy: Susceptibility or Association of Two Diseases?International Multi-Specialty Delphi Survey: Identification of Diagnostic Criteria for Hepatic and Renal Cyst Infection.Potential Effects of Alendronate on Fibroblast Growth Factor 23 Levels and Effective Control of Hypercalciuria in an Adult with Jansen's Metaphyseal ChondrodysplasiaMilder Presentation of Recessive Polycystic Kidney Disease Requires Presence of Amino Acid Substitution MutationsBiochemical characterization of bona fide polycystin-1 in vitro and in vivoSecondary hypertension caused by massive renal lymphangiomatosisIonic dependence of cell volume regulation by the thin ascending limb of Henle's loopCell volume regulation in rat thin ascending limb of Henle's loop[Accidental hypothermia: glycemic, hematologic and blood amylase changes][Effects of dopamine and dobutamine on renal function in normal rats]An integrated genetic and physical map of the autosomal recessive polycystic kidney disease regionRefinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate geneA 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6Infundibular stenosis in Bardet-Biedl syndromeTwo cases of fungal cyst infection in ADPKD: is this really a rare complication?
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description
researcher ORCID ID = 0000-0002-4053-5419
@en
wetenschapper
@nl
name
Luiz F Onuchic
@ast
Luiz F Onuchic
@en
Luiz F Onuchic
@es
Luiz F Onuchic
@nl
type
label
Luiz F Onuchic
@ast
Luiz F Onuchic
@en
Luiz F Onuchic
@es
Luiz F Onuchic
@nl
prefLabel
Luiz F Onuchic
@ast
Luiz F Onuchic
@en
Luiz F Onuchic
@es
Luiz F Onuchic
@nl
P106
P1153
6701472348
P21
P31
P496
0000-0002-4053-5419