Publications:

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Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis.

Frontiers In Pharmacology

Xie, Shuying S; Wei, Shizhang S; Ma, Xiao X; Wang, Ruilin R; He, Tingting T; Zhang, Zhao Z; Yang, Ju J; Wang, Jiawei J; Chang, Lei L; Jing, Manyi M; Li, Haotian H; Zhou, Xuelin X; Zhao, Yanling Y

Publication Date: 2023

Variant appearance in text: MDR3: I541F

PubMed Link: 37324459

Variant Present in the following documents:

• Main text
• fphar-14-1173542.pdf

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Genetic Analysis of ABCB4 Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis.

Genes

Wang, Helen H HH; Portincasa, Piero P; Liu, Min M; Wang, David Q-H DQ

Publication Date: 2022-06-11

Variant appearance in text: ABCB4: 1621A>T

PubMed Link: 35741809

Variant Present in the following documents:

• genes-13-01047.pdf

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RAB10 Interacts with ABCB4 and Regulates Its Intracellular Traffic.

International Journal Of Molecular Sciences

Ben Saad, Amel A; Vauthier, Virginie V; Lapalus, Martine M; Mareux, Elodie E; Bennana, Evangéline E; Durand-Schneider, Anne-Marie AM; Bruneau, Alix A; Delaunay, Jean-Louis JL; Gonzales, Emmanuel E; Housset, Chantal C; Aït-Slimane, Tounsia T; Guillonneau, François F; Jacquemin, Emmanuel E; Falguières, Thomas T

Publication Date: 2021-06-30

Variant appearance in text: ABCB4: I541F

PubMed Link: 34209301

Variant Present in the following documents:

• Main text
• ijms-22-07087.pdf

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Molecular overview of progressive familial intrahepatic cholestasis.

World Journal Of Gastroenterology

Amirneni, Sriram S; Haep, Nils N; Gad, Mohammad A MA; Soto-Gutierrez, Alejandro A; Squires, James E JE; Florentino, Rodrigo M RM

Publication Date: 2020-12-21

Variant appearance in text: ABCB4: I541F

PubMed Link: 33384548

Variant Present in the following documents:

• Main text
• WJG-26-7470.pdf

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Evaluation of a Novel Missense Mutation in ABCB4 Gene Causing Progressive Familial Intrahepatic Cholestasis Type 3.

Disease Markers

Saleem, Komal K; Cui, Qingbo Q; Zaib, Tahir T; Zhu, Siqi S; Qin, Qian Q; Wang, Yusi Y; Dam, Jinxi J; Ji, Wei W; Liu, Peng P; Jia, Xueyuan X; Wu, Jie J; Bai, Jing J; Fu, Songbin S; Sun, Wenjing W

Publication Date: 2020

Variant appearance in text: ABCB4: I541F

PubMed Link: 32626542

Variant Present in the following documents:

• Main text
• DM2020-6292818.pdf

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

Scientific Reports

Vauthier, Virginie V; Ben Saad, Amel A; Elie, Jonathan J; Oumata, Nassima N; Durand-Schneider, Anne-Marie AM; Bruneau, Alix A; Delaunay, Jean-Louis JL; Housset, Chantal C; Aït-Slimane, Tounsia T; Meijer, Laurent L; Falguières, Thomas T

Publication Date: 2019-04-30

Variant appearance in text: ABCB4: I541F

PubMed Link: 31040306

Variant Present in the following documents:

• Main text
• 41598_2019_43111_MOESM1_ESM.pdf
• 41598_2019_Article_43111.pdf

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Functional Rescue of Trafficking-Impaired ABCB4 Mutants by Chemical Chaperones.

Plos One

Gordo-Gilart, Raquel R; Andueza, Sara S; Hierro, Loreto L; Jara, Paloma P; Alvarez, Luis L

Publication Date: 2016

Variant appearance in text: ABCB4: I541F

PubMed Link: 26900700

Variant Present in the following documents:

• Main text
• pone.0150098.pdf

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MDR3 mutation analysis: A step closer to precision medicine.

Hepatology (Baltimore, Md.)

Bezerra, Jorge A JA

Publication Date: 2016-05

Variant appearance in text: MDR3: I541F

PubMed Link: 26680260

Variant Present in the following documents:

• Main text

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: GBD1: I541F

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ABCB4: I541F

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Molecular mechanisms for biliary phospholipid and drug efflux mediated by ABCB4 and bile salts.

Biomed Research International

Morita, Shin-ya SY; Terada, Tomohiro T

Publication Date: 2014

Variant appearance in text: ABCB4: I541F

PubMed Link: 25133187

Variant Present in the following documents:

• Main text
• BMRI2014-954781.pdf

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Defining the blanks--pharmacochaperoning of SLC6 transporters and ABC transporters.

Pharmacological Research

Chiba, Peter P; Freissmuth, Michael M; Stockner, Thomas T

Publication Date: 2014-05

Variant appearance in text: MDR3: I541F

PubMed Link: 24316454

Variant Present in the following documents:

• Main text

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Effects of cellular, chemical, and pharmacological chaperones on the rescue of a trafficking-defective mutant of the ATP-binding cassette transporter proteins ABCB1/ABCB4.

The Journal Of Biological Chemistry

Gautherot, Julien J; Durand-Schneider, Anne-Marie AM; Delautier, Danièle D; Delaunay, Jean-Louis JL; Rada, Alegna A; Gabillet, Julie J; Housset, Chantal C; Maurice, Michèle M; Aït-Slimane, Tounsia T

Publication Date: 2012-02-10

Variant appearance in text: ABCB4: I541F

PubMed Link: 22184139

Variant Present in the following documents:

• Main text

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Cholestatic liver disease in children.

Current Gastroenterology Reports

Santos, Jorge L JL; Choquette, Monique M; Bezerra, Jorge A JA

Publication Date: 2010-02

Variant appearance in text: MDR3: I541F

PubMed Link: 20425482

Variant Present in the following documents:

• Main text

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