Associated Papers
Detection of SLCO1B3 intron 6 LINE-1 insertion by Nanopore Flongle Amplicon Sequencing in the first genetically confirmed Rotor syndrome patient in Hong Kong.
Lau NKC et al.
Pathology, 2026
Intrinsic Factors Influencing Simvastatin and Simvastatin Acid Pharmacokinetics: Age-Related Studies in Thai Adults and Cross-Population Comparisons.
Srimatimanon T et al.
Clinical and Translational Science, 2026
Expert Consensus on the Diagnosis and Management of Inherited Hyperbilirubinemia (2025).
Zheng S et al.
Journal of Clinical and Translational Hepatology, 2026
Effects of nonsense genetic variants on OATP1B1 expression and transport activity in vitro.
Kiander W et al.
European Journal of Pharmaceutical Sciences : Official Journal of the European Federation for Pharmaceutical Sciences, 2025
Novel approaches for the discovery of pharmacogenetic biomarkers of chemotoxicity in patients with colorectal cancer.
Simoes AR et al.
British Journal of Pharmacology, 2025
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
Recurrent SLCO1B1 and SLCO1B3 mutations identified in three patients with Rotor syndrome.
Zhao C et al.
Frontiers in Medicine, 2025
A pedigree analysis of Rotor hyperbilirubinemia combined with hepatitis B virus infection in a SLCO1B1 and SLCO1B3 gene mutations patient.
Lin LZ et al.
Heliyon, 2024
Frequency of pharmacogenomic variation and medication exposures among All of Us Participants.
Haddad A et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
[Clinical characteristics and genetic analysis of four children with Rotor syndrome].
Tan Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024
Associations Between the Polymorphisms in the Coding Sequence of SLCO1B1 and Blood Lipid Levels Before and After Treatment by Atorvastatin in the Chinese Han Adults with Dyslipidemia.
Chen C et al.
Pharmacogenomics and Personalized Medicine, 2024
SLCO1B1 and SLCO1B3 genetic mutations in Taiwanese patients with Rotor syndrome.
Cheng YY et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2023
Comprehensive genetic analyses of childhood acute leukemia in Iraq using next-generation sequencing.
Al-Kzayer LFY et al.
Translational Pediatrics, 2023
PharmVar GeneFocus: SLCO1B1.
Ramsey LB et al.
Clinical Pharmacology and Therapeutics, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients.
Li ZD et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2022
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
Dong W et al.
Journal of Lipid Research, 2022
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
Intronic LINE-1 insertion in SLCO1B3 as a highly prevalent cause of rotor syndrome in East Asian population.
Kim YG et al.
Journal of Human Genetics, 2022
A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels.
Yuan Y et al.
Frontiers in Genetics, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
[Analysis of genetic variants in a case with Rotor syndrome].
Wang D et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021
Rotor Syndrome: Glucuronidated Bile Acidemia From Defective Reuptake by Hepatocytes.
Kimura A et al.
Hepatology Communications, 2021
Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.
Caspar SM et al.
International Journal of Molecular Sciences, 2020
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Insertion of LINE-1 Retrotransposon Inducing Exon Inversion Causes a Rotor Syndrome Phenotype.
Zhou D et al.
Frontiers in Genetics, 2019
Transporter-Mediated Alterations in Patients With NASH Increase Systemic and Hepatic Exposure to an OATP and MRP2 Substrate.
Ali I et al.
Clinical Pharmacology and Therapeutics, 2017
Targeted Sequencing Reveals Low-Frequency Variants in EPHA Genes as Markers of Paclitaxel-Induced Peripheral Neuropathy.
Apellániz-Ruiz M et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 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
Comparison of genome sequencing and clinical genotyping for pharmacogenes.
Yang W et al.
Clinical Pharmacology and Therapeutics, 2016
Recessive inheritance of population-specific intronic LINE-1 insertion causes a rotor syndrome phenotype.
Kagawa T et al.
Human Mutation, 2015
Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.
Alsalem AB et al.
Plos Genetics, 2013
Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.
van de Steeg E et al.
The Journal of Clinical Investigation, 2012
Organic anion transporting polypeptide 1B1: a genetically polymorphic transporter of major importance for hepatic drug uptake.
Niemi M et al.
Pharmacological Reviews, 2011
Genetic variations and frequencies of major haplotypes in SLCO1B1 encoding the transporter OATP1B1 in Japanese subjects: SLCO1B1*17 is more prevalent than *15.
Kim SR et al.
Drug Metabolism and Pharmacokinetics, 2007
Hepatic OATP1B transporters and nuclear receptors PXR and CAR: interplay, regulation of drug disposition genes, and single nucleotide polymorphisms.
Meyer zu Schwabedissen HE et al.
Molecular Pharmaceutics, 0