ReviewKidney international2009
The diversity of PKD1 alleles: implications for disease pathogenesis and genetic counseling.
Review in Kidney international, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
7 citing papers in PubMed, 8 citations in OpenAlex.
- Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia.Human mutation · 2016Trial
- RecessiveFrontiers in molecular neuroscience · 2022Article
- Analysis of Nationwide Data to Determine the Incidence and Diagnosed Prevalence of Autosomal Dominant Polycystic Kidney Disease in the USA: 2013-2015.Kidney diseases (Basel, Switzerland) · 2019Article
- MAP/ERK kinase kinase 1 (MEKK1) mediates transcriptional repression by interacting with polycystic kidney disease-1 (PKD1) promoter-bound p53 tumor suppressor protein.The Journal of biological chemistry · 2010Article
- Molecular diagnostics for autosomal dominant polycystic kidney disease.Nature reviews. Nephrology · 2010Review
- Patient responses to genetic information: studies of patients with hereditary cancer syndromes identify issues for use of genetic testing in nephrology practice.Seminars in nephrology · 2010Review
- Determinants of renal disease variability in ADPKD.Advances in chronic kidney disease · 2010Review
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Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rossetti et al. identify non- and incompletely penetrant alleles of PKD1. Although such alleles are well recognized in other human mendelian disorders, they have not been associated with autosomal dominant polycystic kidney disease (ADPKD). These alleles produce atypical, mild, or severe disease depending on whether they are inherited in the heterozygous or homozygous state or in trans with another mutation, providing an intriguing potential mechanism for the considerable phenotypic variability seen in families with ADPKD.
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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.