ArticleClinical genetics2010
Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63.
Article in Clinical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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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, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- CYP1A1 and GSTP1 gene variations in breast cancer: a systematic review and case-control study.Familial cancer · 2016Pooled it
- Genetic Analysis of Isolated Hepatic Ductal Plate Malformation Reveals Novel Variants and Insights into Phenotypic Correlation.Digestive diseases and sciences · 2026Article
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- Molecular Mechanisms of Isolated Polycystic Liver Diseases.Frontiers in genetics · 2022Review
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- Waitlisted Candidates With Polycystic Liver Disease Are More Likely to be Transplanted Than Those With Chronic Liver Failure.Transplantation · 2017Article
- Severe Polycystic Liver Disease Is Not Caused by Large Deletions of the PRKCSH Gene.Journal of clinical laboratory analysis · 2016Article
- Polycystic liver diseases: advanced insights into the molecular mechanisms.Nature reviews. Gastroenterology & hepatology · 2014Review
- Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management.Orphanet journal of rare diseases · 2014Review
- Polycystin-1: a master regulator of intersecting cystic pathways.Trends in molecular medicine · 2014Review
- Current management of noninfectious hepatic cystic lesions: A review of the literature.World journal of hepatology · 2013Review
- microRNA biomarkers in cystic diseases.BMB reports · 2013Review
- Evaluation of hepatic cystic lesions.World journal of gastroenterology · 2013Review
- Diagnosis and management of polycystic liver disease.Nature reviews. Gastroenterology & hepatology · 2013Review
- Mutation of sec63 in zebrafish causes defects in myelinated axons and liver pathology.Disease models & mechanisms · 2013Article
- Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease.Pediatric nephrology (Berlin, Germany) · 2012Article
- Loss of heterozygosity is present in SEC63 germline carriers with polycystic liver disease.PloS one · 2012Article
- PRKCSH Alternative Splicing Involves in Silica-Induced Expression of Epithelial-Mesenchymal Transition Markers and Cell Proliferation.Dose-response : a publication of International Hormesis SocietyArticle
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
Abstract
Polycystic liver disease (PCLD) is characterized by intralobular bile duct cysts in the liver. It is caused by mutations in PRKCSH, encoding hepatocystin, and SEC63, encoding Sec63p. The main goals of this study were to screen for novel mutations and to analyze mutations for effects on protein structure and function. We screened 464 subjects including 76 probands by direct sequencing or conformation-sensitive capillary electrophoresis. We analyzed the effects of all known and novel mutations using a combination of splice site recognition, evolutionary conservation, secondary and tertiary structure predictions, PolyPhen, and pMut and sift. We identified a total of 26 novel mutations in PRKCSH (n = 14) and SEC63 (n = 12), including four splice site mutations, eight insertions/ deletions, six non-sense mutations, and eight missense mutations. Out of 48 PCLD mutations, 13 were predicted to affect splicing. Most mutations were located in highly conserved regions and homology modeling for two domains of Sec63p showed severe effects of the residue substitutions. In conclusion, we identified 26 novel mutations associated with PCLD and we provide in silico analysis in order to delineate the role of these mutations.
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Registered trials
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.