ArticleAmerican journal of human genetics1999
Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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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.
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Who cites it
22 citing papers in PubMed, 96 citations in OpenAlex.
- Endovascular Management of Renal Artery Pseudoaneurysm in Autosomal Dominant Polycystic Kidney Disease: A Case Report.Vascular specialist international · 2024Article
- Article
- Identification of missense and synonymous variants in Iranian patients suffering from autosomal dominant polycystic kidney disease.BMC nephrology · 2020Article
- Mutation analyses by next-generation sequencing and multiplex ligation-dependent probe amplification in Japanese autosomal dominant polycystic kidney disease patients.Clinical and experimental nephrology · 2019Article
- Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.Molecular genetics & genomic medicine · 2019Article
- Vascular complications in autosomal dominant polycystic kidney disease.Nature reviews. Nephrology · 2015Review
- A Pkd1-Fbn1 genetic interaction implicates TGF-β signaling in the pathogenesis of vascular complications in autosomal dominant polycystic kidney disease.Journal of the American Society of Nephrology : JASN · 2014Article
- The genetics of vascular complications in autosomal dominant polycystic kidney disease (ADPKD).Current hypertension reviews · 2013Review
- Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease.BMC medical genetics · 2011Article
- High Resolution Melt analysis for mutation screening in PKD1 and PKD2.BMC nephrology · 2011Article
- Molecular advances in autosomal dominant polycystic kidney disease.Advances in chronic kidney disease · 2010Review
- New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.BMC medical genetics · 2009Article
- Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.Kidney international · 2009Article
- Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2008Article
- PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.BMC medical genetics · 2006Article
- The genetics of intracranial aneurysms.Journal of human genetics · 2006Review
- Management of polycystic liver disease.Current gastroenterology reports · 2005Review
- Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP).BMC medical genetics · 2004Article
- Introduction: Non-atherosclerotic cerebrovascular disorders.Brain pathology (Zurich, Switzerland) · 2002Review
- Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease.American journal of human genetics · 2001Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
It is known that several of the most severe complications of autosomal-dominant polycystic kidney disease, such as intracranial aneurysms, cluster in families. There have been no studies reported to date, however, that have attempted to correlate severely affected pedigrees with a particular genotype. Until recently, in fact, mutation detection for most of the PKD1 gene was virtually impossible because of the presence of several highly homologous loci also located on chromosome 16. In this report we describe a cluster of 4 bp in exon 15 that are unique to PKD1. Forward and reverse PKD1-specific primers were designed in this location to amplify regions of the gene from exons 11-21 by use of long-range PCR. The two templates described were used to analyze 35 pedigrees selected for study because they included individuals with either intracranial aneurysms and/or very-early-onset disease. We identified eight novel truncating mutations, two missense mutations not found in a panel of controls, and several informative polymorphisms. Many of the polymorphisms were also present in the homologous loci, supporting the idea that they may serve as a reservoir for genetic variability in the PKD1 gene. Surprisingly, we found that three independently ascertained pedigrees had an identical 2-bp deletion in exon 15. This raises the possibility that particular genotypes may be associated with more-severe disease.
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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.