ArticleAmerican journal of human genetics1997
A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 106 citations in OpenAlex.
- Polycystin-1 and Cardiac Remodeling: From Mechanotransduction to Clinical Consequences.Circulation research · 2026Review
- A Ciliary Phosphoinositide Pathway Regulates the Dosage of Polycystins in Primary Cilia.Journal of the American Society of Nephrology : JASN · 2026Article
- The Importance of Molecular Testing in the Diagnosis of Genetic Syndromes with Chronic Kidney Disease: Genotype-Phenotype Correlations.International journal of molecular sciences · 2026Article
- Single-Base Substitution Causing Dual-Exon Skipping Event inJournal of clinical medicine · 2024Article
- Polycystin Channel Complexes.Annual review of physiology · 2023Review
- Characterization of Primary Cilia in Osteoblasts Isolated From Patients With ADPKD and CKD.JBMR plus · 2021Article
- Adaptive selection drives TRPP3 loss-of-function in an Ethiopian population.Scientific reports · 2020Article
- Identification of missense and synonymous variants in Iranian patients suffering from autosomal dominant polycystic kidney disease.BMC nephrology · 2020Article
- Function and regulation of TRPP2 ion channel revealed by a gain-of-function mutant.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
- Altered trafficking and stability of polycystins underlie polycystic kidney disease.The Journal of clinical investigation · 2014Article
- High-resolution melt as a screening method in autosomal dominant polycystic kidney disease (ADPKD).Journal of clinical laboratory analysis · 2014Article
- Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia.Journal of applied genetics · 2013Article
- The genetics of vascular complications in autosomal dominant polycystic kidney disease (ADPKD).Current hypertension reviews · 2013Review
- Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic.BMC nephrology · 2012Article
- Living donor kidney transplantation in patients with hereditary nephropathies.Nature reviews. Nephrology · 2010Review
- Molecular diagnostics for autosomal dominant polycystic kidney disease.Nature reviews. Nephrology · 2010Review
- Genotype-phenotype correlation in children with autosomal dominant polycystic kidney disease.Pediatric nephrology (Berlin, Germany) · 2009Article
- Cyst formation in kidney via B-Raf signaling in the PKD2 transgenic mice.The Journal of biological chemistry · 2009Article
- PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.BMC medical genetics · 2006Article
- DNA microsatellite analysis in families with autosomal dominant polycystic kidney disease (ADPKD): the first Polish study.Journal of applied genetics · 2006Article
Corrections and comments
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Authors and funding
17 authors at 10 institutions in 9 countries.
Funding
Abstract
Recently the second gene for autosomal dominant polycystic kidney disease (ADPKD), located on chromosome 4q21-q22, has been cloned and characterized. The gene encodes an integral membrane protein, polycystin-2, that shows amino acid similarity to the PKD1 gene product and to the family of voltage-activated calcium (and sodium) channels. We have systematically screened the gene for mutations by single-strand conformation-polymorphism analysis in 35 families with the second type of ADPKD and have identified 20 mutations. So far, most mutations found seem to be unique and occur throughout the gene, without any evidence of clustering. In addition to small deletions, insertions, and substitutions leading to premature translation stops, one amino acid substitution and five possible splice-site mutations have been found. These findings suggest that the first step toward cyst formation in PKD2 patients is the loss of one functional copy of polycystin-2.
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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.