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TranscriptomicsMapping genetic modifiers of ARPKD
Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 gene in both humans and the orthologous PCK rat model. Although ARPKD results solely from PKHD1 mutations, the disease onset and severity are highly variable, indicating that other unknown genetic risk factor(s...
ORGANISM(S): Rattus norvegicus 
2015-06-06 | E-GEOD-58229 | biostudies-arrayexpress
TranscriptomicsMapping genetic modifiers of ARPKD
Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 gene in both humans and the orthologous PCK rat model. Although ARPKD results solely from PKHD1 mutations, the disease onset and severity are highly variable, indicating that other unknown genetic risk factor(s...
ORGANISM(S): Rattus norvegicus 
2015-06-06 | GSE58229 | GEO
ProteomicsDisruption of the human Cystin-1 myristoyl-electrostatic switch causes autosomal recessive polycystic kidney disease (ARPKD)
Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is primarily caused by pathogenic variants in PKHD1, which encodes fibrocystin/polyductin (FPC). The Cys1cpk/cpk (cpk) mouse expresses a renal lesion that closely phenocopies ARPKD. Cys1-encoded cystin is a myristoylated protein that ...
ORGANISM(S): Mus musculus (Mouse) 
2026-04-13 | PXD048013 | Pride
Arpkd Myristoyl-electrostatic switch Pka-phosphorylation Ppm1a-dephosphorylation Cystin Cystin-1 
GenomicsSingel cell RNA-seq analysis of ARPKD mutation affect hepatic organoid differentiation
Singel cell RNA-seq analysis of ARPKD mutation affect hepatic organoid differentiation
PRJNA647601 | ENA
GenomicsNext Generation Sequencing Technologies to Investigate Autosomal Recessive Polycystic Kidney Disease (ARPKD).
Next Generation Sequencing Technologies to Investigate Autosomal Recessive Polycystic Kidney Disease (ARPKD).
PRJNA1013555 | ENA
GenomicsElectrolyte and Metabolite Composition of Cystic Fluid from a rat model of ARPKD
Electrolyte and Metabolite Composition of Cystic Fluid from a rat model of ARPKD
PRJNA1087327 | ENA
TranscriptomicsSingel cell RNA-seq analysis of ARPKD mutation affect hepatic organoid differentiation
Liver fibrosis usually involve different cell types interaction. Despite its devastating consequences, there are no treatments for liver fibrosis. Genome engineering and a human hepatic organoid system was used to produce the first naïve in vitro model including several crucial components contribute...
ORGANISM(S): Homo sapiens 
2021-08-25 | GSE154883 | GEO
GenomicsRattus norvegicus
Mapping genetic modifiers of ARPKD
PRJNA251651 | ENA
TranscriptomicsNext Generation Sequencing Technologies to Investigate Autosomal Recessive Polycystic Kidney Disease (ARPKD).
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare paediatric disease primarily caused by mutations in the gene PKHD1. ARPKD presents with considerably clinical variability which is linked to the type of PKHD1 mutation but not position. Animal models of Polycystic Kidney Disease (PKD) s...
ORGANISM(S): Homo sapiens 
2024-09-06 | GSE242476 | GEO
UnknownGastrostomy Tube Insertion in Pediatric Patients With Autosomal Recessive Polycystic Kidney Disease (ARPKD): Current Practice.
Not available
S-EPMC5994991 | biostudies-literature
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