Publications:

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Recent updates on progressive familial intrahepatic cholestasis types 1, 2 and 3: Outcome and therapeutic strategies.

World Journal Of Hepatology

Alam, Seema S; Lal, Bikrant Bihari BB

Publication Date: 2022-01-27

Variant appearance in text: PFIC2: G238V

PubMed Link: 35126842

Variant Present in the following documents:

• Main text
• WJH-14-98.pdf

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Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology

Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J

Publication Date: 2021-09

Variant appearance in text: ABCB11: 713G>T; G238V; rs72551306

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

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The Bile Salt Export Pump: Molecular Structure, Study Models and Small-Molecule Drugs for the Treatment of Inherited BSEP Deficiencies.

International Journal Of Molecular Sciences

Sohail, Muhammad Imran MI; Dönmez-Cakil, Yaprak Y; Szöllősi, Dániel D; Stockner, Thomas T; Chiba, Peter P

Publication Date: 2021-01-14

Variant appearance in text: BSEP: G238V

PubMed Link: 33466755

Variant Present in the following documents:

• Main text
• ijms-22-00784.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: BSEP: G238V

PubMed Link: 33384548

Variant Present in the following documents:

• Main text
• WJG-26-7470.pdf

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Population Pharmacokinetic and Pharmacogenetic Analysis of Mitotane in Patients with Adrenocortical Carcinoma: Towards Individualized Dosing.

Clinical Pharmacokinetics

Yin, Anyue A; Ettaieb, Madeleine H T MHT; Swen, Jesse J JJ; van Deun, Liselotte L; Kerkhofs, Thomas M A TMA; van der Straaten, Robert J H M RJHM; Corssmit, Eleonora P M EPM; Gelderblom, Hans H; Kerstens, Michiel N MN; Feelders, Richard A RA; Eekhoff, Marelise M; Timmers, Henri J L M HJLM; D'Avolio, Antonio A; Cusato, Jessica J; Guchelaar, Henk-Jan HJ; Haak, Harm R HR; Moes, Dirk Jan A R DJAR

Publication Date: 2021-01

Variant appearance in text: ABCB11: 713G>T; G238V; rs72551306

PubMed Link: 32607875

Variant Present in the following documents:

• 40262_2020_913_MOESM3_ESM.xlsx, sheet 1

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Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics

Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR

Publication Date: 2017-03

Variant appearance in text: rs72551306

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

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USP19-Mediated Deubiquitination Facilitates the Stabilization of HRD1 Ubiquitin Ligase.

International Journal Of Molecular Sciences

Harada, Kumi K; Kato, Masako M; Nakamura, Nobuhiro N

Publication Date: 2016-11-02

Variant appearance in text: ABCB11: G238V

PubMed Link: 27827840

Variant Present in the following documents:

• Main text
• ijms-17-01829.pdf

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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: PFIC2: G238V

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: ABCB11: G238V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers

Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N

Publication Date: 2015

Variant appearance in text: rs72551306

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

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The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports

Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK

Publication Date: 2014

Variant appearance in text: rs72551306

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

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Biosynthesis and trafficking of the bile salt export pump, BSEP: therapeutic implications of BSEP mutations.

Molecular Aspects Of Medicine

Soroka, Carol J CJ; Boyer, James L JL

Publication Date: 2014-06

Variant appearance in text: PFIC2: G238V

PubMed Link: 23685087

Variant Present in the following documents:

• Main text

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The bile salt export pump: clinical and experimental aspects of genetic and acquired cholestatic liver disease.

Seminars In Liver Disease

Lam, Ping P; Soroka, Carol J CJ; Boyer, James L JL

Publication Date: 2010-05

Variant appearance in text: BSEP: G238V

PubMed Link: 20422495

Variant Present in the following documents:

• Main text

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Xenobiotic, bile acid, and cholesterol transporters: function and regulation.

Pharmacological Reviews

Klaassen, Curtis D CD; Aleksunes, Lauren M LM

Publication Date: 2010-03

Variant appearance in text: BSEP: G238V

PubMed Link: 20103563

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• Main text

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Degradation of the bile salt export pump at endoplasmic reticulum in progressive familial intrahepatic cholestasis type II.

Hepatology (Baltimore, Md.)

Wang, Lin L; Dong, Huiping H; Soroka, Carol J CJ; Wei, Ning N; Boyer, James L JL; Hochstrasser, Mark M

Publication Date: 2008-11

Variant appearance in text: BSEP: G238V

PubMed Link: 18798335

Variant Present in the following documents:

• Main text

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The role of bile salt export pump mutations in progressive familial intrahepatic cholestasis type II.

The Journal Of Clinical Investigation

Wang, Lin L; Soroka, Carol J CJ; Boyer, James L JL

Publication Date: 2002-10

Variant appearance in text: BSEP: G238V

PubMed Link: 12370274

Variant Present in the following documents:

• Main text

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