ArticleAmerican journal of human genetics2003
Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 77 papers.
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Who cites it
77 citing papers in PubMed, 193 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
- Randomized clinical trial of long-acting somatostatin for autosomal dominant polycystic kidney and liver disease.Journal of the American Society of Nephrology : JASN · 2010Trial
- PKD1 upstream open reading frames affect Polycystin-1 expression and polycystic kidney disease phenotypes.The Journal of clinical investigation · 2026Article
- Physiologic mechanisms underlying polycystic kidney disease.Physiological reviews · 2025Review
- Isolated polycystic liver disease in a child.International journal of surgery case reports · 2023Article
- Article
- Genetic Spectrum of Polycystic Kidney and Liver Diseases and the Resulting Phenotypes.Advances in kidney disease and health · 2023Review
- Genetics, pathobiology and therapeutic opportunities of polycystic liver disease.Nature reviews. Gastroenterology & hepatology · 2022Review
- GANAB andInternational journal of molecular sciences · 2022Review
- Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry.Journal of nephrology · 2022Article
- Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.American journal of human genetics · 2022Article
- Down-regulating Circular RNA Prkcsh suppresses the inflammatory response after spinal cord injury.Neural regeneration research · 2022Article
- Polycystic Liver Disease: Pathophysiology, Diagnosis and Treatment.Hepatic medicine : evidence and research · 2022Review
- Molecular Mechanisms of Isolated Polycystic Liver Diseases.Frontiers in genetics · 2022Review
- Association of a novelAnnals of translational medicine · 2021Article
- Epidemiology of autosomal-dominant polycystic liver disease in Olmsted county.JHEP reports : innovation in hepatology · 2020Article
- Regulation of polycystin expression, maturation and trafficking.Cellular signalling · 2020Review
- Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.Frontiers in genetics · 2020Article
- Article
- Pathobiology of inherited biliary diseases: a roadmap to understand acquired liver diseases.Nature reviews. Gastroenterology & hepatology · 2019Review
17 more citing papers are in PubMed but not listed here.
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9 authors at 2 institutions in 1 country.
Funding
Abstract
Autosomal dominant polycystic liver disease (ADPLD) is a distinct clinical and genetic entity that can occur independently from autosomal dominant polycystic kidney disease (ADPKD). We previously studied two large kindreds and reported localization of a gene for ADPLD to an approximately 8-Mb region, flanked by markers D19S586/D19S583 and D19S593/D19S579, on chromosome 19p13.2-13.1. Expansion of these kindreds and identification of an additional family allowed us to define flanking markers CA267 and CA048 in an approximately 3-Mb region containing >70 candidate genes. We used a combination of denaturing high-performance liquid chromatography (DHPLC) heteroduplex analysis and direct sequencing to screen a panel of 15 unrelated affected individuals for mutations in genes from this interval. We found sequence variations in a known gene, PRKCSH, that were not observed in control individuals, that segregated with the disease haplotype, and that were predicted to be chain-terminating mutations. In contrast to PKD1, PKD2, and PKHD1, PRKCSH encodes a previously described human protein termed "protein kinase C substrate 80K-H" or "noncatalytic beta-subunit of glucosidase II." This protein is highly conserved, is expressed in all tissues tested, and contains a leader sequence, an LDLa domain, two EF-hand domains, and a conserved C-terminal HDEL sequence. Its function may be dependent on calcium binding, and its putative actions include the regulation of N-glycosylation of proteins and signal transduction via fibroblast growth-factor receptor. In light of the focal nature of liver cysts in ADPLD, the apparent loss-of-function mutations in PRKCSH, and the two-hit mechanism operational in dominant polycystic kidney disease, ADPLD may also occur by a two-hit mechanism.
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