ArticleScientific reports2017
Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
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Who cites it
27 citing papers in PubMed, 55 citations in OpenAlex.
- Bulevirtide Monotherapy Is Safe and Well Tolerated in Chronic Hepatitis Delta: An Integrated Safety Analysis of Bulevirtide Clinical Trials at Week 48.Liver international : official journal of the International Association for the Study of the Liver · 2025Trial
- Article
- Hepatocyte-Derived Apoptotic Bodies as Pathological Intercellular Messengers in the Liver.Biomolecules · 2026Review
- [Clinical and genetic characteristics of 14 children with sodium taurocholate co-transporting polypeptide deficiency].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Article
- NTCP ubiquitination enables HBV infection.JHEP reports : innovation in hepatology · 2025Article
- Organic anion transporting polypeptides: Pharmacology, toxicology, structure, and transport mechanisms.Pharmacological reviews · 2025Review
- Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia.American journal of human genetics · 2024Article
- SLC10A1 rs2296651 variant (S267F mutation) predicts biochemical traits, hepatitis B virus infection susceptibility and the risk of gallstone disease.Molecular genetics and genomics : MGG · 2024Article
- Joint host-pathogen genomic analysis identifies hepatitis B virus mutations associated with human NTCP and HLA class I variation.American journal of human genetics · 2024Article
- 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
- Article
- Multitasking NaBiomedicines · 2022Review
- NTCP Deficiency Affects the Levels of Circulating Bile Acids and Induces Osteoporosis.Frontiers in endocrinology · 2022Article
- Molecular Epidemiology of NaFrontiers in genetics · 2022Article
- De novo mutation loci and clinical analysis in a child with sodium taurocholate cotransport polypeptide deficiency: A case report.World journal of clinical cases · 2021Article
- A homozygous R148W mutation in Semaphorin 7A causes progressive familial intrahepatic cholestasis.EMBO molecular medicine · 2021Article
- Targeting the Four Pillars of Enterohepatic Bile Salt Cycling; Lessons From Genetics and Pharmacology.Hepatology (Baltimore, Md.) · 2021Review
- Clinical features of sodium-taurocholate cotransporting polypeptide deficiency in pediatric patients: case series and literature review.Translational pediatrics · 2021Article
- The NTCP p.Ser267Phe Variant Is Associated With a Faster Anti-HBV Effect on First-Line Nucleos(t)ide Analog Treatment.Frontiers in pharmacology · 2021Article
- Clinical and molecular characterization of four patients with NTCP deficiency from two unrelated families harboring the novel SLC10A1 variant c.595A>C (p.Ser199Arg).Molecular medicine reports · 2019Article
Corrections and comments
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Authors and funding
27 authors at 9 institutions in 4 countries.
Funding
Abstract
SLC10A1 codes for the sodium-taurocholate cotransporting polypeptide (NTCP), which is a hepatocellular transporter for bile acids (BAs) and the receptor for hepatitis B and D viruses. NTCP is also a target of multiple drugs. We aimed to evaluate the medical consequences of the loss of function mutation p.Ser267Phe in SLC10A1. We identified eight individuals with homozygous p.Ser267Phe mutation in SLC10A1 and followed up for 8-90 months. We compared their total serum BAs and 6 species of BAs with 170 wild-type and 107 heterozygous healthy individuals. We performed in-depth medical examinations and exome sequencing in the homozygous individuals. All homozygous individuals had persistent hypercholanemia (P = 5.8 × 10
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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.