Publications:

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Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications

Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD

Publication Date: 2023-02-11

Variant appearance in text: ABCB11: 2944G>A; G982R; rs72549399

PubMed Link: 36774361

Variant Present in the following documents:

• 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1

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In Vitro Rescue of the Bile Acid Transport Function of ABCB11 Variants by CFTR Potentiators.

International Journal Of Molecular Sciences

Mareux, Elodie E; Lapalus, Martine M; Ben Saad, Amel A; Zelli, Renaud R; Lakli, Mounia M; Riahi, Yosra Y; Almes, Marion M; Banet, Manon M; Callebaut, Isabelle I; Decout, Jean-Luc JL; Falguières, Thomas T; Jacquemin, Emmanuel E; Gonzales, Emmanuel E

Publication Date: 2022-09-15

Variant appearance in text: ABCB11: 2944G>A

PubMed Link: 36142670

Variant Present in the following documents:

• ijms-23-10758.pdf

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Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the Literature.

Cancers

Vitale, Giovanni G; Mattiaccio, Alessandro A; Conti, Amalia A; Turco, Laura L; Seri, Marco M; Piscaglia, Fabio F; Morelli, Maria Cristina MC

Publication Date: 2022-07-14

Variant appearance in text: ABCB11: G982R

PubMed Link: 35884482

Variant Present in the following documents:

• cancers-14-03421.pdf

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Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-05-10

Variant appearance in text: ABCB11: G982R

PubMed Link: 35538087

Variant Present in the following documents:

• 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3

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Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-02-23

Variant appearance in text: ABCB11: G982R

PubMed Link: 35197475

Variant Present in the following documents:

• 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3

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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: G982R

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: 2944G>A; G982R; rs72549399

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: G982R

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: G982R

PubMed Link: 33384548

Variant Present in the following documents:

• Main text
• WJG-26-7470.pdf

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: ABCB11: 2944G>A; G982R

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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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: 2944G>A; G982R; rs72549399

PubMed Link: 32607875

Variant Present in the following documents:

• 40262_2020_913_MOESM3_ESM.xlsx, sheet 1

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Molecular Modelling and Evaluation of Hidden Information in ABCB11 Gene Mutations.

Journal Of Biomedical Physics & Engineering

M, Zarenezhad Z; S M, Dehghani D; F, Ejtehadi E; M R, Fattahi F; M, Mortazavi M; S M B, Tabei T

Publication Date: 2019-06

Variant appearance in text: PFIC2: 2944G>A

PubMed Link: 31341876

Variant Present in the following documents:

• Main text
• JBPE-9-303.pdf

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs72549399

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology

Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G

Publication Date: 2017-04

Variant appearance in text: ABCB11: 2944G>A; G982R

PubMed Link: 28267273

Variant Present in the following documents:

• MOL2-11-438-s003.xls, 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: rs72549399

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

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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: G982R

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: N/A

PubMed Link: 26206375

Variant Present in the following documents:

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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

,

Publication Date: 2015-06-26

Variant appearance in text: ABCB11: G982R; rs72549399

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_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: rs72549399

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: rs72549399

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: N/A

PubMed Link: 23685087

Variant Present in the following documents:

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Morphologic findings in progressive familial intrahepatic cholestasis 2 (PFIC2): correlation with genetic and immunohistochemical studies.

The American Journal Of Surgical Pathology

Evason, Kimberley K; Bove, Kevin E KE; Finegold, Milton J MJ; Knisely, A S AS; Rhee, Sue S; Rosenthal, Philip P; Miethke, Alexander G AG; Karpen, Saul J SJ; Ferrell, Linda D LD; Kim, Grace E GE

Publication Date: 2011-05

Variant appearance in text: BSEP: 2944G>A

PubMed Link: 21490445

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: N/A

PubMed Link: 20422495

Variant Present in the following documents:

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Polymorphic variants in the human bile salt export pump (BSEP; ABCB11): functional characterization and interindividual variability.

Pharmacogenetics And Genomics

Ho, Richard H RH; Leake, Brenda F BF; Kilkenny, Dawn M DM; Meyer Zu Schwabedissen, Henriette E HE; Glaeser, Hartmut H; Kroetz, Deanna L DL; Kim, Richard B RB

Publication Date: 2010-01

Variant appearance in text: N/A

PubMed Link: 20010382

Variant Present in the following documents:

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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: N/A

PubMed Link: 18798335

Variant Present in the following documents:

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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: G982R

PubMed Link: 12370274

Variant Present in the following documents:

• Main text

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