Publications:

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs2287622

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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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: rs2287622

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 Factors and Their Role in the Pathogenesis of Biliary Atresia.

Frontiers In Pediatrics

Wu, Li-Na LN; Zhu, Zhi-Jun ZJ; Sun, Li-Ying LY

Publication Date: 2022

Variant appearance in text: rs2287622

PubMed Link: 35844731

Variant Present in the following documents:

• Main text
• fped-10-912154.pdf

View BVdb publication page

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Genetic Variant ABCC1 rs45511401 Is Associated with Increased Response to Statins in Patients with Familial Hypercholesterolemia.

Pharmaceutics

Dagli-Hernandez, Carolina C; Borges, Jéssica Bassani JB; Marçal, Elisangela da Silva Rodrigues EDSR; de Freitas, Renata Caroline Costa RCC; Mori, Augusto Akira AA; Gonçalves, Rodrigo Marques RM; Faludi, Andre Arpad AA; de Oliveira, Victor Fernandes VF; Ferreira, Glaucio Monteiro GM; Bastos, Gisele Medeiros GM; Zhou, Yitian Y; Lauschke, Volker M VM; Cerda, Alvaro A; Hirata, Mario Hiroyuki MH; Hirata, Rosario Dominguez Crespo RDC

Publication Date: 2022-04-27

Variant appearance in text: rs2287622

PubMed Link: 35631530

Variant Present in the following documents:

• Main text
• pharmaceutics-14-00944.pdf

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: rs2287622

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia.

Journal Of Personalized Medicine

Hindi, Nagham N NN; Alenbawi, Jamil J; Nemer, Georges G

Publication Date: 2021-08-31

Variant appearance in text: rs2287622

PubMed Link: 34575654

Variant Present in the following documents:

• Main text
• jpm-11-00877.pdf

View BVdb publication page

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Gene Variants Determine Placental Transfer of Perfluoroalkyl Substances (PFAS), Mercury (Hg) and Lead (Pb), and Birth Outcome: Findings From the UmMuKi Bratislava-Vienna Study.

Frontiers In Genetics

Gundacker, Claudia C; Graf-Rohrmeister, Klaudia K; Gencik, Martin M; Hengstschläger, Markus M; Holoman, Karol K; Rosa, Petra P; Kroismayr, Renate R; Offenthaler, Ivo I; Plichta, Veronika V; Reischer, Theresa T; Teufl, Isabella I; Raffesberg, Wolfgang W; Scharf, Sigrid S; Köhler-Vallant, Birgit B; Delissen, Zoja Z; Weiß, Stefan S; Uhl, Maria M

Publication Date: 2021

Variant appearance in text: rs2287622

PubMed Link: 34220941

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype.

Pharmacogenomics And Personalized Medicine

Fonseca, Dora Janeth DJ; Morel, Adrien A; Llinás-Caballero, Kevin K; Bolívar-Salazar, David D; Laissue, Paul P

Publication Date: 2021

Variant appearance in text: rs2287622

PubMed Link: 33688237

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs2287622

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

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: rs2287622

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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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs2287622

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Statin-Related Myotoxicity: A Comprehensive Review of Pharmacokinetic, Pharmacogenomic and Muscle Components.

Journal Of Clinical Medicine

Turner, Richard Myles RM; Pirmohamed, Munir M

Publication Date: 2019-12-20

Variant appearance in text: rs2287622

PubMed Link: 31861911

Variant Present in the following documents:

• jcm-09-00022-s001.pdf

View BVdb publication page

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Exome Sequencing Reveals Immune Genes as Susceptibility Modifiers in Individuals with α1-Antitrypsin Deficiency.

Scientific Reports

Rigobello, Chiara C; Baraldo, Simonetta S; Tinè, Mariaenrica M; Ferrarotti, Ilaria I; Corsico, Angelo Guido AG; Bazzan, Erica E; Turato, Graziella G; Balestro, Elisabetta E; Biondini, Davide D; Valle, Giorgio G; Saetta, Marina M; Cosio, Manuel G MG

Publication Date: 2019-09-11

Variant appearance in text: rs2287622

PubMed Link: 31511551

Variant Present in the following documents:

• Main text
• 41598_2019_Article_49409.pdf

View BVdb publication page

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Reproducibility of pharmacogenetics findings for paclitaxel in a heterogeneous population of patients with lung cancer.

Plos One

Sissung, Tristan M TM; Rajan, Arun A; Blumenthal, Gideon M GM; Liewehr, David J DJ; Steinberg, Seth M SM; Berman, Arlene A; Giaccone, Giuseppe G; Figg, William D WD

Publication Date: 2019

Variant appearance in text: rs2287622

PubMed Link: 30817750

Variant Present in the following documents:

• Main text
• pone.0212097.pdf

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs2287622

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

View BVdb publication page

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Phase I study of PF‐04895162, a Kv7 channel opener, reveals unexpected hepatotoxicity in healthy subjects, but not rats or monkeys: clinical evidence of disrupted bile acid homeostasis.

Pharmacology Research & Perspectives

Aleo, Michael D MD; Aubrecht, Jiri J; D Bonin, Paul P; Burt, Deborah A DA; Colangelo, Jennifer J; Luo, Lina L; Schomaker, Shelli S; Swiss, Rachel R; Kirby, Simon S; C Rigdon, Greg G; Dua, Pinky P

Publication Date: 2019-02

Variant appearance in text: rs2287622

PubMed Link: 30784208

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional analysis of the correlation between ABCB11 gene mutation and primary intrahepatic stone.

Molecular Medicine Reports

Gan, Lang L; Pan, Shuguang S; Cui, Jinchi J; Bai, Jie J; Jiang, Peng P; He, Yu Y

Publication Date: 2019-01

Variant appearance in text: rs2287622

PubMed Link: 30431138

Variant Present in the following documents:

• Main text

View BVdb publication page

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Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis.

Bmc Gastroenterology

Sharma, Anjali A; Poddar, Ujjal U; Agnihotry, Shikha S; Phadke, Shubha R SR; Yachha, Surender K SK; Aggarwal, Rakesh R

Publication Date: 2018-07-04

Variant appearance in text: rs2287622

PubMed Link: 29973134

Variant Present in the following documents:

• Main text

View BVdb publication page

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An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy.

Scientific Reports

Dixon, Peter H PH; Sambrotta, Melissa M; Chambers, Jennifer J; Taylor-Harris, Pamela P; Syngelaki, Argyro A; Nicolaides, Kypros K; Knisely, A S AS; Thompson, Richard J RJ; Williamson, Catherine C

Publication Date: 2017-09-18

Variant appearance in text: rs2287622

PubMed Link: 28924228

Variant Present in the following documents:

• Main text
• 41598_2017_Article_11626.pdf

View BVdb publication page

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NOD2 gene variants confer risk for secondary sclerosing cholangitis in critically ill patients.

Scientific Reports

Jüngst, Christoph C; Stadlbauer, Vanessa V; Reichert, Matthias C MC; Zimmer, Vincent V; Weber, Susanne N SN; Ofner-Ziegenfuß, Lisa L; Voigtländer, Torsten T; Spindelböck, Walter W; Fickert, Peter P; Kirchner, Gabriele I GI; Lammert, Frank F; Lankisch, Tim O TO; Krawczyk, Marcin M

Publication Date: 2017-08-01

Variant appearance in text: rs2287622

PubMed Link: 28765628

Variant Present in the following documents:

• Main text
• 41598_2017_Article_6268.pdf
• 41598_2017_6268_MOESM1_ESM.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs2287622

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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A preliminary investigation on single nucleotide polymorphism rs2287622 of bile salt export pump gene in patients with chronic hepatitis C virus infection in Hunan, China.

Bmc Gastroenterology

Lei, Jian-Hua JH; Yang, Xu X; Xiao, Xin-Qiang XQ; Chen, Zi Z; Peng, Feng F

Publication Date: 2017-03-14

Variant appearance in text: rs2287622

PubMed Link: 28292275

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs2287622

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

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Clinical and molecular study of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency.

Experimental And Therapeutic Medicine

Deng, Mei M; Mao, Man M; Guo, Li L; Chen, Feng-Ping FP; Wen, Wang-Rong WR; Song, Yuan-Zong YZ

Publication Date: 2016-11

Variant appearance in text: rs2287622

PubMed Link: 27882152

Variant Present in the following documents:

• etm-12-05-3294.pdf

View BVdb publication page

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Role of polymorphic bile salt export pump (BSEP, ABCB11) transporters in anti-tuberculosis drug-induced liver injury in a Chinese cohort.

Scientific Reports

Chen, Ru R; Wang, Jing J; Tang, Shaowen S; Zhang, Yuan Y; Lv, Xiaozhen X; Wu, Shanshan S; Yang, Zhirong Z; Xia, Yinyin Y; Chen, Dafang D; Zhan, Siyan S

Publication Date: 2016-06-13

Variant appearance in text: rs2287622

PubMed Link: 27293027

Variant Present in the following documents:

• Main text
• srep27750.pdf

View BVdb publication page

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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: N/A

PubMed Link: 26659599

Variant Present in the following documents:

View BVdb publication page

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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: V444D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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: rs2287622

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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Polymorphisms in ABCB11 and ATP8B1 Associated with Development of Severe Intrahepatic Cholestasis in Hodgkin's Lymphoma.

Journal Of Clinical And Experimental Hepatology

Blackmore, Laura L; Knisely, A S AS; Hartley, Jane L JL; McKay, Kirsten K; Gissen, Paul P; Marcus, Robert R; Shawcross, Debbie L DL

Publication Date: 2013-06

Variant appearance in text: rs2287622

PubMed Link: 25755490

Variant Present in the following documents:

• Main text

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: rs2287622

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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A comprehensive analysis of common genetic variation around six candidate loci for intrahepatic cholestasis of pregnancy.

The American Journal Of Gastroenterology

Dixon, Peter H PH; Wadsworth, Christopher A CA; Chambers, Jennifer J; Donnelly, Jennifer J; Cooley, Sharon S; Buckley, Rebecca R; Mannino, Ramona R; Jarvis, Sheba S; Syngelaki, Argyro A; Geenes, Victoria V; Paul, Priyadarshini P; Sothinathan, Meera M; Kubitz, Ralf R; Lammert, Frank F; Tribe, Rachel M RM; Ch'ng, Chin Lye CL; Marschall, Hanns-Ulrich HU; Glantz, Anna A; Khan, Shahid A SA; Nicolaides, Kypros K; Whittaker, John J; Geary, Michael M; Williamson, Catherine C

Publication Date: 2014-01

Variant appearance in text: rs2287622

PubMed Link: 24366234

Variant Present in the following documents:

• Main text
• ajg2013406a.pdf

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs2287622

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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Sequencing and analysis of a South Asian-Indian personal genome.

Bmc Genomics

Gupta, Ravi R; Ratan, Aakrosh A; Rajesh, Changanamkandath C; Chen, Rong R; Kim, Hie Lim HL; Burhans, Richard R; Miller, Webb W; Santhosh, Sam S; Davuluri, Ramana V RV; Butte, Atul J AJ; Schuster, Stephan C SC; Seshagiri, Somasekar S; Thomas, George G

Publication Date: 2012-08-31

Variant appearance in text: rs2287622

PubMed Link: 22938532

Variant Present in the following documents:

• 1471-2164-13-440-S2.xlsx, sheet 11

View BVdb publication page

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Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics

Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W

Publication Date: 2008-06-11

Variant appearance in text: rs2287622

PubMed Link: 18547414

Variant Present in the following documents:

• 1755-8794-1-24-S1.xls, sheet 1

View BVdb publication page

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