ArticleClinics and research in hepatology and gastroenterology2015
NTCP deficiency: a new inherited disease of bile acid transport.
Article in Clinics and research in hepatology and gastroenterology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.
- Bile Acids Transporters of Enterohepatic Circulation for Targeted Drug Delivery.Molecules (Basel, Switzerland) · 2022Pooled it
- Duodenal fluid analysis is an excellent differential diagnosis method of diseases with enterohepatic circulation disturbance.Medicine · 2025Observational
- Review
- Organic Anion Transporting Polypeptide (OATP) 1B3 is a Significant Transporter for Hepatic Uptake of Conjugated Bile Acids in Humans.Cellular and molecular gastroenterology and hepatology · 2023Article
- Cholestasis-Associated Pruritus and Its Pruritogens.Frontiers in medicine · 2021Review
- Clinical and histopathologic features of sodium taurocholate cotransporting polypeptide deficiency in pediatric patients.Medicine · 2019Observational
- Predicting Drug-Induced Cholestasis with the Help of Hepatic Transporters-An in Silico Modeling Approach.Journal of chemical information and modeling · 2017Article
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1 author at 1 institution in 1 country.
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Abstract
The authors report the case of a child with extreme elevation of serum bile acid concentration, without pruritus, symptomatic cholestasis, liver disease, or abnormalities of liver function tests. Sequencing of the SLC10A1 gene, encoding NTCP (the sinusoidal uptake transporter of conjugated bile acids) revealed a single homozygous point mutation in the coding sequence of the gene resulting in an arginine to histidine substitution at position 252. This mutation resulted in a markedly reduced uptake activity of taurocholic acid. This is the first report of a new inborn error of bile acid transport, due to a mutation of NTCP.
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