ArticleDigestive diseases and sciences1996
Survey of cystic fibrosis transmembrane conductance regulator genotypes in primary sclerosing cholangitis.
Article in Digestive diseases and sciences, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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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
5 citing papers in PubMed, 25 citations in OpenAlex.
- Primary Sclerosing Cholangitis and Inflammatory Bowel Disease: A Review.Journal of clinical and translational hepatology · 2022Review
- Gene-gene and gene-environment interactions in ulcerative colitis.Human genetics · 2014Article
- Cutting edge issues in primary sclerosing cholangitis.Clinical reviews in allergy & immunology · 2011Article
- Lessons from the toxic bile concept for the pathogenesis and treatment of cholestatic liver diseases.Wiener medizinische Wochenschrift (1946) · 2008Review
- Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis.Human genetics · 2003Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A variety of cholestatic liver diseases appear to primarily affect the biliary epithelium, including cystic fibrosis (CF). CF results from a defect in the chloride channel protein, cystic fibrosis transmembrane conductance regulator (CFTR). Although the majority of CF patients have a genomic deletion in deltaF508, other mutations of CFTR may result in less severe clinical presentations and outcomes. Recently, CFTR has been shown to be involved in secretin-stimulated choleresis in intrahepatic bile duct epithelial cells. Cholestasis in cystic fibrosis appears to result from defective chloride transport across the biliary epithelium and is the only cholestatic disease of bile ducts for which a cellular defect has been identified. Primary sclerosing cholangitis (PSC) is a cholestatic disease with histological and cholangiographic features similar to CF. The purpose of this pilot study was to explore whether there is an increased prevalence of CFTR mutations. Two patients exhibited mutations in one allele, yielding a carrier rate of 10.6%, not statistically different from the general U.S. population carrier rate of 4%.
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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.