ArticleExperimental and therapeutic medicine2016
Clinical and molecular study of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency.
Article in Experimental and therapeutic medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 51 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
- Bile Acid Signaling in Metabolic and Inflammatory Diseases and Drug Development.Pharmacological reviews · 2024Review
- 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
- The epidemiological characteristics of liver disease in hospitalized children: a 10-year single-center retrospective study.Frontiers in pediatrics · 2024Article
- Role of Hepatocyte Transporters in Drug-Induced Liver Injury (DILI)-In Vitro Testing.Pharmaceutics · 2022Review
- Thyroid Hormone Transporters in Pregnancy and Fetal Development.International journal of molecular sciences · 2022Review
- Hepatic Expression of the NaInternational journal of molecular sciences · 2022Article
- Molecular Epidemiology of NaFrontiers in genetics · 2022Article
- NTCP Deficiency Affects the Levels of Circulating Bile Acids and Induces Osteoporosis.Frontiers in endocrinology · 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
- Modulation of Bile Acid Metabolism to Improve Plasma Lipid and Lipoprotein Profiles.Journal of clinical medicine · 2021Review
- Clinical characterization of NTCP deficiency in paediatric patients : A case-control study based on SLC10A1 genotyping analysis.Liver international : official journal of the International Association for the Study of the Liver · 2021Article
- Clinical features of sodium-taurocholate cotransporting polypeptide deficiency in pediatric patients: case series and literature review.Translational pediatrics · 2021Article
- Reduced spontaneous itch in mouse models of cholestasis.Scientific reports · 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
- Increased sulfation of bile acids in mice and human subjects with sodium taurocholate cotransporting polypeptide deficiency.The Journal of biological chemistry · 2019Article
- Diverse Effects of the NTCP p.Ser267Phe Variant on Disease Progression During Chronic HBV Infection and on HBV preS1 Variability.Frontiers in cellular and infection microbiology · 2019Article
- Sodium Taurocholate Cotransporting Polypeptide (NTCP) Deficiency Hidden Behind Citrin Deficiency in Early Infancy: A Report of Three Cases.Frontiers in genetics · 2019Article
- Bona fide receptor for hepatitis B and D viral infections: Mechanism, research models and molecular drug targets.Emerging microbes & infections · 2018Review
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The human solute carrier family 10 member 1 (SLC10A1) gene encodes sodium taurocholate cotransporting polypeptide (NTCP), the principal transporter of conjugated bile salts from the plasma into hepatocytes. Although the function of NTCP has been studied extensively and a number of SLC10A1 variations have been identified in humans, information regarding NTCP deficiency is limited. To date, only one patient with NTCP deficiency has been described; however, in the present study a pediatric patient who experienced intractable and striking hypercholanemia is presented. Analysis of the SLC10A1 gene in the patient revealed a homozygous p.Ser267Phe (c.800C>T) variation, which proved to be a single-nucleotide polymorphism (SNP) in the allele frequency of 4.7% of healthy controls. This variation involved a conserved amino acid residue on the orthologous alignment that was predicted to be 'disease-causing' by functional analysis using a number of bioinformatic tools. Next generation sequencing was performed; however, no other genetic causes were identified that would affect the bile acid homeostasis in the patient. Moreover, an adult, with the same genotype as the pediatric patient, was identified for the first time as experiencing mild hypercholanemia. The molecular and clinical findings in the present study suggest, for the first time, that there is an association between p.Ser267Phe SNP and hypercholanemia, and this information may be used to clinically identify NTCP deficiency worldwide.
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