ArticleClinical kidney journal2024
Monoallelic pathogenic
Article in Clinical kidney journal, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 14 citations in OpenAlex.
- Molecular genetic diagnosis of autosomal dominant polycystic kidney disease - A systematic review.Global medical genetics · 2026Review
- Article
- Typical and atypical ADPKD: predicted pathogenic genetic variants and population frequencies.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2026Article
- Characterizing the ADPKD-Kidney international reports · 2025Article
- Kidney organoid models of polycystic kidney disease: challenges and future directions.American journal of physiology. Renal physiology · 2025Review
- Article
- The need for clinical, genetic and radiological characterization of atypical polycystic kidney disease.Journal of nephrology · 2025Article
- Article
- Pathogenic Pathways and Therapeutic Strategies in Autosomal Dominant Polycystic Kidney Disease (ADPKD).Journal of cellular signaling · 2025Article
- Systematic use of protein free energy changes for classifying variants of uncertain significance: the case of IFT140 in Mainzer-Saldino Syndrome.Frontiers in molecular biosciences · 2025Article
- Sporadic ADPKDKidney international reports · 2024Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder, characterized by development and enlargement of kidney cysts, eventually leading to end-stage kidney disease (ESKD). Pathogenic variants in the Methods: In this retrospective study, we tested the prevalence of the known causative genes of ADPKD-spectrum phenotype, including the Results: Of the 129 enrolled patients, 86 (66.7%) had pathogenic variants in Conclusion: Our data suggest the monoallelic pathogenic
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Registered trials
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