ArticleAmerican journal of human genetics2000
Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 102 citations in OpenAlex.
- Pansomatostatin Agonist Pasireotide Long-Acting Release for Patients with Autosomal Dominant Polycystic Kidney or Liver Disease with Severe Liver Involvement: A Randomized Clinical Trial.Clinical journal of the American Society of Nephrology : CJASN · 2020Trial
- Somatostatin analog therapy for severe polycystic liver disease: results after 2 years.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2012Trial
- Randomized clinical trial of long-acting somatostatin for autosomal dominant polycystic kidney and liver disease.Journal of the American Society of Nephrology : JASN · 2010Trial
- Article
- Tolvaptan safety in autosomal-dominant polycystic kidney disease; a focus on idiosyncratic drug-induced liver injury liabilities.Toxicological sciences : an official journal of the Society of Toxicology · 2025Review
- Navigating PRKCSH's impact on cancer: from N-linked glycosylation to death pathway and anti-tumor immunity.Frontiers in oncology · 2024Review
- Article
- Molecular Mechanisms of Isolated Polycystic Liver Diseases.Frontiers in genetics · 2022Review
- Polycystic Liver Disease: Pathophysiology, Diagnosis and Treatment.Hepatic medicine : evidence and research · 2022Review
- Initial experience with the use of tris-acryl gelatin microspheres for transcatheter arterial embolization for enlarged polycystic liver.Clinical and experimental nephrology · 2019Article
- A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family.Human mutation · 2018Article
- Liver Transplant for Unusually Large Polycystic Liver Disease: Challenges and Pitfalls.Case reports in transplantation · 2018Article
- Isolated polycystic liver disease genes define effectors of polycystin-1 function.The Journal of clinical investigation · 2017Article
- Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes.European journal of human genetics : EJHG · 2016Article
- Development and Validation of a Disease-Specific Questionnaire to Assess Patient-Reported Symptoms in Polycystic Liver Disease.Hepatology (Baltimore, Md.) · 2016Article
- Effect of genotype on the severity and volume progression of polycystic liver disease in autosomal dominant polycystic kidney disease.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2016Article
- Screening analysis of candidate gene mutations in a kindred with polycystic liver disease.World journal of gastroenterology · 2015Article
- Polycystin-1: a master regulator of intersecting cystic pathways.Trends in molecular medicine · 2014Review
- Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management.Orphanet journal of rare diseases · 2014Review
- Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis.Proceedings of the National Academy of Sciences of the United States of America · 2014Article
Corrections and comments
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Authors and funding
12 authors at 6 institutions in 3 countries.
Funding
Abstract
Polycystic liver disease (PCLD) is characterized by the growth of fluid-filled cysts of biliary epithelial origin in the liver. Although the disease is often asymptomatic, it can, when severe, lead to complications requiring surgical therapy. PCLD is most often associated with autosomal dominant polycystic kidney disease (ADPKD); however, families with an isolated polycystic liver phenotype without kidney involvement have been described. The clinical presentation and histological features of polycystic liver disease in the presence or absence of ADPKD are indistinguishable, raising the possibility that the pathogenetic mechanisms in the diseases are interrelated. We ascertained two large families with polycystic liver disease without kidney cysts and performed a genomewide scan for genetic linkage. A causative gene, PCLD, was mapped to chromosome 19p13.2-13.1, with a maximum LOD score of 10.3. Haplotype analysis refined the PCLD interval to 12.5 cM flanked by D19S586/D19S583 and D19S593/D19S579. The discovery of genetic linkage will facilitate diagnosis and study of this underdiagnosed disease entity. Identification of PCLD will be instrumental to an understanding of the pathogenesis of cyst formation in the liver in isolated PCLD and in ADPKD.
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