ArticleJournal of the American Society of Nephrology : JASN2018
Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease.
Article in Journal of the American Society of Nephrology : JASN, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03901521 (Autosomal Dominant Polycystic Kidney Disease Somatic Mutation Biorepository), which is not on this map. Cited by 34 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.
Autosomal Dominant Polycystic Kidney Disease Somatic Mutation Biorepository
Who cites it
34 citing papers in PubMed, 64 citations in OpenAlex.
- PKD1 upstream open reading frames affect Polycystin-1 expression and polycystic kidney disease phenotypes.The Journal of clinical investigation · 2026Article
- A new conceptual framework for PKD1 in ADPKD; integrating DNA structures and inflammation.BMC nephrology · 2026Review
- The Renal Micro-RNA Expression Profile of Pkd1RC/RC Mice Changes Longitudinally with the Progression of the Disease.Kidney360 · 2026Article
- AbioRxiv : the preprint server for biology · 2026Article
- Genomic and epigenomic landscape of ADPKD: towards precision diagnostics and tailored treatments.Frontiers in epigenetics and epigenomics · 2026Review
- Inhibition of the inflammasome ameliorates orthologous polycystic kidney disease.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Antiproliferative effects of dihydrotanshinone I on autosomal dominant polycystic kidney disease via immunomodulation.The Journal of pharmacology and experimental therapeutics · 2025Article
- Ion channel function of polycystin-2/polycystin-1 heteromer revealed by structure-guided mutagenesis.FEBS letters · 2025Article
- G-quadruplex stabilization provokes DNA breaks in human PKD1, revealing a second hit mechanism for ADPKD.Nature communications · 2025Article
- Pathogenic Pathways and Therapeutic Strategies in Autosomal Dominant Polycystic Kidney Disease (ADPKD).Journal of cellular signaling · 2025Article
- Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human kidney cysts.NPJ genomic medicine · 2024Article
- Emerging mechanistic understanding of cilia function in cellular signalling.Nature reviews. Molecular cell biology · 2024Review
- Familial Variability of Disease Severity in Adult Patients With ADPKD.Kidney international reports · 2024Article
- Human pluripotent stem cell-derived kidney organoids: Current progress and challenges.World journal of stem cells · 2024Review
- Wall Tension and Tubular Resistance in Kidney Cystic Conditions.Biomedicines · 2023Review
- Mechanisms of Cyst Development in Polycystic Kidney Disease.Advances in kidney disease and health · 2023Review
- Glucose absorption drives cystogenesis in a human organoid-on-chip model of polycystic kidney disease.Nature communications · 2022Article
- A common intronic single nucleotide variant modifies PKD1 expression level.Clinical genetics · 2022Article
- Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.American journal of human genetics · 2022Article
- Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.American journal of human genetics · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAutosomal dominant polycystic kidney disease (ADPKD) is a ciliopathy caused by mutations in
methodsWe characterized, by whole-exome sequencing (WES) and long-range PCR techniques, the somatic mutations in
resultsComplete sequencing data by long-range PCR and WES was available for 63 and 65 cysts, respectively. Private somatic mutations of
conclusionsThese findings support a cellular recessive mechanism for cyst formation in ADPKD caused primarily by inactivating constitutional and somatic mutations of
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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.