ArticleJournal of the American Society of Nephrology : JASN2018
Human-Specific Abnormal Alternative Splicing of Wild-Type
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. Cited by 12 papers.
What it found
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Who cites it
12 citing papers in PubMed, 18 citations in OpenAlex.
- A new conceptual framework for PKD1 in ADPKD; integrating DNA structures and inflammation.BMC nephrology · 2026Review
- Translational readthrough therapy for ADPKD induces polycystin1 expression and partially rescues functional deficits in PKD1 mutant cells.Scientific reports · 2025Article
- Eliosin-an alternative product from the HmPKD1 locus is a component of endoplasmic reticulum mitochondria membrane contact sites.PloS one · 2025Article
- Prospects for gene therapy in polycystic kidney disease.Current opinion in nephrology and hypertension · 2025Review
- Triplex H-DNA structure: the long and winding road from the discovery to its role in human disease.NAR molecular medicine · 2024Article
- Fibrocystin/Polyductin releases a C-terminal fragment that translocates into mitochondria and suppresses cystogenesis.Nature communications · 2023Article
- Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD.NPJ genomic medicine · 2023Article
- Allele-specific quantification of human leukocyte antigen transcript isoforms by nanopore sequencing.Frontiers in immunology · 2023Article
- A common intronic single nucleotide variant modifies PKD1 expression level.Clinical genetics · 2022Article
- Tracking N- and C-termini of C. elegans polycystin-1 reveals their distinct targeting requirements and functions in cilia and extracellular vesicles.PLoS genetics · 2022Article
- Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.American journal of human genetics · 2022Article
- Regulation of polycystin expression, maturation and trafficking.Cellular signalling · 2020Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundThe major form of autosomal dominant polycystic kidney disease is caused by heterozygous mutations in
methodsWe used RT-PCR and Western blotting (using an mAb to the N terminus) to probe splicing events over exons 20-24 in the mouse and human
resultsAnalysis of PC1 indicates that humans, but not mice, have a smaller than expected protein product, which we call Trunc_PC1. The findings show that Trunc_PC1 is the protein product of abnormal differential splicing across introns 21 and 22 and that 28.8%-61.5% of
conclusionsThe presence of polypyrimidine tracts decreases levels of full-length
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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.