ArticleJournal of medical genetics1997
A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes.
Article in Journal of medical genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 70 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
- Review
- Generation of special autosomal dominant polycystic kidney disease iPSCs with the capability of functional kidney-like cell differentiation.Stem cell research & therapy · 2017Article
- PKD2 mutation in an Iranian autosomal dominant polycystic kidney disease family with misleading linkage analysis data.Kidney research and clinical practice · 2016Article
- Characterization of the SAM domain of the PKD-related protein ANKS6 and its interaction with ANKS3.BMC structural biology · 2014Article
- Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management.Orphanet journal of rare diseases · 2014Review
- Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.Kidney international · 2014Article
- Diagnosis and management of childhood polycystic kidney disease.Pediatric nephrology (Berlin, Germany) · 2011Review
- Genotype-phenotype correlation in children with autosomal dominant polycystic kidney disease.Pediatric nephrology (Berlin, Germany) · 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
- Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation.World journal of gastroenterology · 2005Article
- Recent advances in understanding the pathogenesis of polycystic kidney disease: therapeutic implications.Drugs · 2004Review
- Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease.American journal of human genetics · 2001Article
- Polycystin-1, the PKD1 gene product, is in a complex containing E-cadherin and the catenins.The Journal of clinical investigation · 1999Article
- Prevalence, risk factors and disease knowledge of polycystic kidney disease in Pakistan.International journal of immunopathology and pharmacologyArticle
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disease. Most families show positive linkage to polymorphic markers around the PKD1 (16p13.3) or PKD2 (4q21-23) loci. The PKD1 and PKD2 genes have been cloned and mutations defined in a number of patients. Several clinical studies have described a milder phenotype for PKD2 patients. More recently, evidence for a third genetic locus has been found in one Portuguese, one French-Canadian, and one Italian family. We identified a Spanish family with negative linkage to the PKD1 and the PKD2 loci. This family showed a very mild clinical phenotype compared to the other forms of ADPKD, including the non-PKD1/non-PKD2 families previously described.
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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.