Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: ABCB4: L59L; rs2302387

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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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: L59L

PubMed Link: 35741809

Variant Present in the following documents:

• Main text
• genes-13-01047.pdf

View BVdb publication page

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Systematic Review of Pharmacogenetics of ABC and SLC Transporter Genes in Acute Myeloid Leukemia.

Pharmaceutics

Megías-Vericat, Juan Eduardo JE; Martínez-Cuadrón, David D; Solana-Altabella, Antonio A; Poveda, José Luis JL; Montesinos, Pau P

Publication Date: 2022-04-17

Variant appearance in text: rs2302387

PubMed Link: 35456712

Variant Present in the following documents:

• Main text
• pharmaceutics-14-00878.pdf

View BVdb publication page

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RNA Splicing: A Versatile Regulatory Mechanism in Pediatric Liver Diseases.

Frontiers In Molecular Biosciences

Zhou, Jian-Li JL; Zhao, Yu-Zhen YZ; Wang, Shan-Shan SS; Chen, Mo-Xian MX; Zhou, Shaoming S; Chen, Chen C

Publication Date: 2021

Variant appearance in text: MDR3: 175C>T

PubMed Link: 34651015

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: ABCB4: 175C>T; L59L; rs2302387

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: ABCB4: 175C>T; L59L; rs2302387

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Pharmacogenetics of tenofovir and emtricitabine penetration into cerebrospinal fluid.

Southern African Journal Of Hiv Medicine

Decloedt, Eric H EH; Sinxadi, Phumla Z PZ; Wiesner, Lubbe L; Joska, John A JA; Haas, David W DW; Maartens, Gary G

Publication Date: 2021

Variant appearance in text: rs2302387

PubMed Link: 34007475

Variant Present in the following documents:

• Main text

View BVdb publication page

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

Annals Of Translational Medicine

Bai, Jie J; Li, Lu L; Liu, Hui H; Liu, Shuang S; Bai, Li L; Ning, Hanbing H; Song, Wenyan W; Zou, Huaibin H; Wang, Xinxin X; Chen, Yu Y; Zheng, Sujun S; Duan, Zhongping Z

Publication Date: 2021-03

Variant appearance in text: ABCB4: 175C>T; L59L

PubMed Link: 33842647

Variant Present in the following documents:

• Main text
• atm-09-05-426.pdf

View BVdb publication page

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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: ABCB4: 175C>T; L59L; rs2302387

PubMed Link: 32607875

Variant Present in the following documents:

• 40262_2020_913_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: ABCB4: 175C>T; Leu59=; rs2302387

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: ABCB4: L59L; rs2302387

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Pharmacogenomic Biomarkers in Docetaxel Treatment of Prostate Cancer: From Discovery to Implementation.

Genes

Varnai, Reka R; Koskinen, Leena M LM; Mäntylä, Laura E LE; Szabo, Istvan I; FitzGerald, Liesel M LM; Sipeky, Csilla C

Publication Date: 2019-08-08

Variant appearance in text: rs2302387

PubMed Link: 31398933

Variant Present in the following documents:

• Main text
• genes-10-00599.pdf

View BVdb publication page

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Severe Hepatotoxicity of Mithramycin Therapy Caused by Altered Expression of Hepatocellular Bile Transporters.

Molecular Pharmacology

Sissung, Tristan M TM; Huang, Phoebe A PA; Hauke, Ralph J RJ; McCrea, Edel M EM; Peer, Cody J CJ; Barbier, Roberto H RH; Strope, Jonathan D JD; Ley, Ariel M AM; Zhang, Mary M; Hong, Julie A JA; Venzon, David D; Jackson, Jonathan P JP; Brouwer, Kenneth R KR; Grohar, Patrick P; Glod, Jon J; Widemann, Brigitte C BC; Heller, Theo T; Schrump, David S DS; Figg, William D WD

Publication Date: 2019-08

Variant appearance in text: ABCB4: L59L; rs2302387

PubMed Link: 31175181

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs2302387

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: ABCB4: 175C>T; rs2302387

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: ABCB4: 175C>T; rs2302387

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 3
• MGG3-6-739-s002.xlsx, sheet 6
• MGG3-6-739-s002.xlsx, sheet 2

View BVdb publication page

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Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Oncotarget

Kürschner, Gerrit G; Zhang, Qingzhou Q; Clima, Rosanna R; Xiao, Yi Y; Busch, Jonas Felix JF; Kilic, Ergin E; Jung, Klaus K; Berndt, Nikolaus N; Bulik, Sascha S; Holzhütter, Hermann-Georg HG; Gasparre, Giuseppe G; Attimonelli, Marcella M; Babu, Mohan M; Meierhofer, David D

Publication Date: 2017-12-01

Variant appearance in text: ABCB4: L59L

PubMed Link: 29285300

Variant Present in the following documents:

• oncotarget-08-105882-s002.xlsx, sheet 1

View BVdb publication page

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Association of genetic variations with pharmacokinetics and lipid-lowering response to atorvastatin in healthy Korean subjects.

Drug Design, Development And Therapy

Woo, Hye In HI; Kim, Suk Ran SR; Huh, Wooseong W; Ko, Jae-Wook JW; Lee, Soo-Youn SY

Publication Date: 2017

Variant appearance in text: rs2302387

PubMed Link: 28435225

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of novel SNPs associated with risk and prognosis in patients with castration-resistant prostate cancer.

Pharmacogenomics

Sissung, Tristan M TM; Deeken, John J; Leibrand, Crystal R CR; Price, Douglas K DK; Ehrlich, Sheryl S; Steinberg, Seth M SM; Liewehr, David J DJ; Dahut, William W; Figg, William D WD

Publication Date: 2016-12

Variant appearance in text: rs2302387

PubMed Link: 27883295

Variant Present in the following documents:

• Main text

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: ABCB4: L59L; rs2302387

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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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: rs2302387

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3.

World Journal Of Gastroenterology

Sun, Hao-Zhe HZ; Shi, Hong H; Zhang, Shun-Cai SC; Shen, Xi-Zhong XZ

Publication Date: 2015-01-14

Variant appearance in text: ABCB4: 175C>T; L59L; rs2302387

PubMed Link: 25593501

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: ABCB4: L59L; rs2302387

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: ABCB4: L59L

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s003.xls, sheet 3

View BVdb publication page

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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: rs2302387

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones.

World Journal Of Gastroenterology

Jirsa, Milan M; Bronský, Jiří J; Dvořáková, Lenka L; Šperl, Jan J; Šmajstrla, Vít V; Horák, Jiří J; Nevoral, Jiří J; Hřebíček, Martin M

Publication Date: 2014-05-21

Variant appearance in text: ABCB4: 175C>T; rs2302387

PubMed Link: 24914347

Variant Present in the following documents:

• Main text

View BVdb publication page

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TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Plos One

Ogata, Tsutomu T; Niihori, Tetsuya T; Tanaka, Noriko N; Kawai, Masahiko M; Nagashima, Takeshi T; Funayama, Ryo R; Nakayama, Keiko K; Nakashima, Shinichi S; Kato, Fumiko F; Fukami, Maki M; Aoki, Yoko Y; Matsubara, Yoichi Y

Publication Date: 2014

Variant appearance in text: rs2302387

PubMed Link: 24637876

Variant Present in the following documents:

• pone.0091598.s006.pdf

View BVdb publication page

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: ABCB4: L59L; rs2302387

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

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Genetic associations with thalidomide mediated venous thrombotic events in myeloma identified using targeted genotyping.

Blood

Johnson, David C DC; Corthals, Sophie S; Ramos, Christine C; Hoering, Antje A; Cocks, Kim K; Dickens, Nicholas J NJ; Haessler, Jeff J; Goldschmidt, Harmut H; Child, J Anthony JA; Bell, Sue E SE; Jackson, Graham G; Baris, Dalsu D; Rajkumar, S Vincent SV; Davies, Faith E FE; Durie, Brian G M BG; Crowley, John J; Sonneveld, Pieter P; Van Ness, Brian B; Morgan, Gareth J GJ

Publication Date: 2008-12-15

Variant appearance in text: rs2302387

PubMed Link: 18805967

Variant Present in the following documents:

• Main text

View BVdb publication page

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