ArticleKidney international2014
Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.
Article in Kidney international, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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
18 citing papers in PubMed, 45 citations in OpenAlex.
- Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants.Journal of the American Society of Nephrology : JASN · 2025Article
- The Controversial Role of Fibrosis in Autosomal Dominant Polycystic Kidney Disease.International journal of molecular sciences · 2020Review
- Polycystin-1 Assembles With Kv Channels to Govern Cardiomyocyte Repolarization and Contractility.Circulation · 2019Article
- Is Autosomal Dominant Polycystic Kidney Disease Becoming a Pediatric Disorder?Frontiers in pediatrics · 2017Review
- Identification and Expression Analysis of the Complete Family of ZebrafishFrontiers in cell and developmental biology · 2017Article
- The Clinical Manifestation and Management of Autosomal Dominant Polycystic Kidney Disease in China.Kidney diseases (Basel, Switzerland) · 2016Review
- Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease.Journal of the American Society of Nephrology : JASN · 2016Article
- Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.American journal of human genetics · 2016Article
- PKD2 mutation in an Iranian autosomal dominant polycystic kidney disease family with misleading linkage analysis data.Kidney research and clinical practice · 2016Article
- Autosomal dominant polycystic kidney disease: recent advances in clinical management.F1000Research · 2016Review
- A polycystin-centric view of cyst formation and disease: the polycystins revisited.Kidney international · 2015Review
- A protocol for the identification and validation of novel genetic causes of kidney disease.BMC nephrology · 2015Article
- Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.Kidney international · 2015Article
- Autosomal dominant polycystic kidney disease in children.Current opinion in pediatrics · 2015Review
- Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease.The Journal of clinical investigation · 2014Review
- Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.BMC medical genetics · 2014Article
- The importance of quantifying genetic heterogeneity in ADPKD.Kidney international · 2014Article
- Kidney: polycystic kidney disease.Wiley interdisciplinary reviews. Developmental biologyReview
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15 authors at 5 institutions in 5 countries.
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Abstract
Mutations to PKD1 and PKD2 are associated with autosomal dominant polycystic kidney disease (ADPKD). The absence of apparent PKD1/PKD2 linkage in five published European or North American families with ADPKD suggested a third locus, designated PKD3. Here we re-evaluated these families by updating clinical information, re-sampling where possible, and mutation screening for PKD1/PKD2. In the French-Canadian family, we identified PKD1: p.D3782_V3783insD, with misdiagnoses in two individuals and sample contamination explaining the lack of linkage. In the Portuguese family, PKD1: p.G3818A segregated with the disease in 10 individuals in three generations with likely misdiagnosis in one individual, sample contamination, and use of distant microsatellite markers explaining the linkage discrepancy. The mutation PKD2: c.213delC was found in the Bulgarian family, with linkage failure attributed to false positive diagnoses in two individuals. An affected son, but not the mother, in the Italian family had the nonsense mutation PKD1: p.R4228X, which appeared de novo in the son, with simple cysts probably explaining the mother's phenotype. No likely mutation was found in the Spanish family, but the phenotype was atypical with kidney atrophy in one case. Thus, re-analysis does not support the existence of a PKD3 in ADPKD. False positive diagnoses by ultrasound in all resolved families shows the value of mutation screening, but not linkage, to understand families with discrepant data.
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