Varaico: Literature-Extracted Genetic Variants

Gene:SLC10A1
Variant:p.R252H
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SLC10A1

NM_003049.4:p.R252H

Associated Papers

Genetic study of intrahepatic cholestasis of pregnancy in Chinese women unveils East Asian etiology linked to historic HBV epidemic.

Liu Y et al.

Journal of Hepatology, 2025

SLC10A5 deficiency causes hypercholanemia.

Xu Y et al.

Hepatology (baltimore, Md.), 2025

Molecular mechanisms of Na+-driven bile acid transport in human NTCP.

Lu X et al.

Biophysical Journal, 2024

Organic Anion Transporting Polypeptide (OATP) 1B3 is a Significant Transporter for Hepatic Uptake of Conjugated Bile Acids in Humans.

Pan Q et al.

Cellular and Molecular Gastroenterology and Hepatology, 2023

Hepatic Expression of the Na+-Taurocholate Cotransporting Polypeptide Is Independent from Genetic Variation.

Tremmel R et al.

International Journal of Molecular Sciences, 2022

Sodium taurocholate co-transporting polypeptide deficiency.

Schneider AL et al.

Clinics and Research in Hepatology and Gastroenterology, 2022

De novo mutation loci and clinical analysis in a child with sodium taurocholate cotransport polypeptide deficiency: A case report.

Liu HY et al.

World Journal of Clinical Cases, 2021

A homozygous R148W mutation in Semaphorin 7A causes progressive familial intrahepatic cholestasis.

Pan Q et al.

Embo Molecular Medicine, 2021

Genetic variants associated with diseases in Afghan population.

Zadran SK et al.

Molecular Genetics & Genomic Medicine, 2021

33486863 (PubMed )
Supplement: MGG3-9-e1608-s001.xlsx › Sheet1

Clinical features of sodium-taurocholate cotransporting polypeptide deficiency in pediatric patients: case series and literature review.

Zou TT et al.

Translational Pediatrics, 2021

In Vitro Functional Characterization and in Silico Prediction of Rare Genetic Variation in the Bile Acid and Drug Transporter, Na+-Taurocholate Cotransporting Polypeptide (NTCP, SLC10A1).

Russell LE et al.

Molecular Pharmaceutics, 2020

Clinical and molecular characterization of four patients with NTCP deficiency from two unrelated families harboring the novel SLC10A1 variant c.595A>C (p.Ser199Arg).

Li H et al.

Molecular Medicine Reports, 2019

Increased sulfation of bile acids in mice and human subjects with sodium taurocholate cotransporting polypeptide deficiency.

Mao F et al.

The Journal of Biological Chemistry, 2019

Intrahepatic Cholestasis of Pregnancy as a Clinical Manifestation of Sodium-Taurocholate Cotransporting Polypeptide Deficiency.

Chen R et al.

The Tohoku Journal of Experimental Medicine, 2019

NTCP S267F variant associates with decreased susceptibility to HBV and HDV infection and decelerated progression of related liver diseases.

Binh MT et al.

International Journal of Infectious Diseases : Ijid : Official Publication of the International Society for Infectious Diseases, 2019

Sodium taurocholate cotransporting polypeptide (NTCP) deficiency: Identification of a novel SLC10A1 mutation in two unrelated infants presenting with neonatal indirect hyperbilirubinemia and remarkable hypercholanemia.

Qiu JW et al.

Oncotarget, 2017

Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine.

Liu R et al.

Scientific Reports, 2017

Loss of organic anion transporting polypeptide 1B3 function causes marked delay in indocyanine green clearance without any clinical symptoms.

Kagawa T et al.

Hepatology (baltimore, Md.), 2017

[Sodium taurocholate cotransporting polypeptide deficiency manifesting as cholestatic jaundice in early infancy: a complicated case study].

Song YZ et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2017

Extended Abstract: Deficiency of Sodium Taurocholate Cotransporting Polypeptide (SLC10A1): A New Inborn Error of Metabolism with an Attenuated Phenotype.

Vaz FM et al.

Digestive Diseases (basel, Switzerland), 2017

Clinical and molecular study of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency.

Deng M et al.

Experimental and Therapeutic Medicine, 2016

The p.Ser267Phe variant in SLC10A1 is associated with resistance to chronic hepatitis B.

Peng L et al.

Hepatology (baltimore, Md.), 2015

NTCP deficiency: a new inherited disease of bile acid transport.

Erlinger S

Clinics and Research in Hepatology and Gastroenterology, 2015

Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: conjugated hypercholanemia without a clear clinical phenotype.

Vaz FM et al.

Hepatology (baltimore, Md.), 2015

Not all (bile acids) who wander are lost: the first report of a patient with an isolated NTCP defect.

Karpen SJ et al.

Hepatology (baltimore, Md.), 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."