Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.I490T
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ABCB4

NM_000443.4:p.I490T

Associated Papers

Molecular characterisation of the trafficking rescue of defective ABCB4 variants by roscovitine analogues.

Banet M et al.

Scientific Reports, 2026

ABC transporters involved in respiratory and cholestatic diseases: From rare to very rare monogenic diseases.

Lakli M et al.

Biochemical Pharmacology, 2024

Identification of new correctors for traffic-defective ABCB4 variants by a high-content screening approach.

Lakli M et al.

Communications Biology, 2024

Effect of CFTR correctors on the traffic and the function of intracellularly retained ABCB4 variants.

Ben Saad A et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2021

A novel compound heterozygous mutation in ABCB4 gene in a pedigree with progressive familial intrahepatic cholestasis 3: a case report.

Bai J et al.

Annals of Translational Medicine, 2021

Structure of the human lipid exporter ABCB4 in a lipid environment.

Olsen JA et al.

Nature Structural & Molecular Biology, 2020

ABCB4/MDR3 in health and disease - at the crossroads of biochemistry and medicine.

Prescher M et al.

Biological Chemistry, 2019

A homozygous ABCB4 mutation causing an LPAC syndrome evolves into cholangiocarcinoma.

Khabou B et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019

Structural analogues of roscovitine rescue the intracellular traffic and the function of ER-retained ABCB4 variants in cell models.

Vauthier V et al.

Scientific Reports, 2019

ABCB4 missense mutations D243A, K435T, G535D, I490T, R545C, and S978P significantly impair the lipid floppase and likely predispose to secondary pathologies in the human population.

Andress EJ et al.

Cellular and Molecular Life Sciences : Cmls, 2017

ABCB4/MDR3 gene mutations and cholangiocarcinomas.

Tougeron D et al.

Journal of Hepatology, 2012

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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."