ArticleRNA biology2015
Splicing defects caused by exonic mutations in PKD1 as a new mechanism of pathogenesis in autosomal dominant polycystic kidney disease.
Article in RNA biology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
13 citing papers in PubMed, 43 citations in OpenAlex.
- Quantifying variant contributions in cystic kidney disease using national-scale whole-genome sequencing.The Journal of clinical investigation · 2024Article
- Identified eleven exon variants in PKD1 and PKD2 genes that altered RNA splicing by minigene assay.BMC genomics · 2023Article
- Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD.NPJ genomic medicine · 2023Article
- Twelve exonic variants in theFrontiers in genetics · 2022Article
- A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.Human mutation · 2021Article
- Identification and Splicing Characterization of NovelFrontiers in genetics · 2021Article
- Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles.BMC nephrology · 2020Article
- A Comprehensive Analysis and Splicing Characterization of Naturally Occurring Synonymous Variants in theFrontiers in genetics · 2020Article
- Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants.European journal of human genetics : EJHG · 2018Article
- Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease.Journal of the American Society of Nephrology : JASN · 2018Article
- Article
- Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients.Journal of cellular and molecular medicine · 2017Article
- Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension.Scientific reports · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The correct splicing of precursor-mRNA depends on the actual splice sites plus exonic and intronic regulatory elements recognized by the splicing machinery. Surprisingly, an increasing number of examples reveal that exonic mutations disrupt the binding of splicing factors to these sequences or generate new splice sites or regulatory elements, causing disease. This contradicts the general assumption that missense mutations disrupt protein function and that synonymous mutations are merely polymorphisms. Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited disorder caused mainly by mutations in the PKD1 gene. Recently, we analyzed a substantial number of PKD1 missense or synonymous mutations to further characterize their consequences on pre-mRNA splicing. Our results showed that one missense and 2 synonymous mutations induce significant defects in pre-mRNA splicing. Thus, it appears that aberrant splicing as a result of exonic mutations is a previously unrecognized cause of ADPKD.
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.