ArticleJournal of the American Society of Nephrology : JASN2019
Synergistic Genetic Interactions between
Article in Journal of the American Society of Nephrology : JASN, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
30 citing papers in PubMed, 55 citations in OpenAlex.
- Fibrocystin/polyductin (FPC): new functional insights into ARPKD pathogenesis revealed by informatics, comparative genomics, and model systems.Pediatric nephrology (Berlin, Germany) · 2026Review
- Modeling Complex Developmental Disease: The Case of Polycystic Kidney Disease.Journal of developmental biology · 2026Review
- Kidney Volume and Molecular Processes are Dynamic in ADPKD.Kidney international reports · 2026Article
- Article
- Pilot study using a discrete mathematical approach for topological analysis and ssGSEA of gene expression in autosomal recessive polycystic kidney disease.Scientific reports · 2025Article
- Microvascular aberrations found in human polycystic kidneys are an early feature in a Pkd1 mutant mouse model.Disease models & mechanisms · 2025Article
- The dynamics of tubulogenesis in development and disease.Development (Cambridge, England) · 2025Review
- Inhibition of asparagine synthetase effectively retards polycystic kidney disease progression.EMBO molecular medicine · 2024Article
- Defects of renal tubular homeostasis and cystogenesis in theiScience · 2024Article
- The PKHD1 gene inhibits tumor proliferation and invasion in intrahepatic cholangiocarcinoma by activating the Notch pathway.International journal of medical sciences · 2024Article
- Cilia-related diseases.Journal of cellular and molecular medicine · 2023Review
- Fibrocystin/Polyductin releases a C-terminal fragment that translocates into mitochondria and suppresses cystogenesis.Nature communications · 2023Article
- Pkhd1Journal of molecular medicine (Berlin, Germany) · 2023Article
- Co-Inheritance of Pathogenic Variants inGenes · 2023Article
- Lessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing Genotype.Kidney international reports · 2022Article
- Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases.Orphanet journal of rare diseases · 2022Article
- Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.American journal of human genetics · 2022Article
- Translational research approaches to study pediatric polycystic kidney disease.Molecular and cellular pediatrics · 2021Review
- Predictors of progression in autosomal dominant and autosomal recessive polycystic kidney disease.Pediatric nephrology (Berlin, Germany) · 2021Review
- Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease.International journal of molecular sciences · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundAutosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD) are genetically distinct, with ADPKD usually caused by the genes
methodsTo study the interaction between
resultsThe genetic interaction was synergistic in both species, with digenic animals exhibiting phenotypes of rapidly progressive PKD and early lethality resembling classic ARPKD. Genetic interaction between
conclusionsThese data indicate that FPC and the polycystins work independently, with separate disease-causing thresholds; however, a combined protein threshold triggers the synergistic, cystogenic response because of enhanced dysregulation of primary cilia. These insights into pathogenesis highlight possible common therapeutic targets.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.