Publications:

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs8187858

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: ABCC1: Y568Y; rs8187858

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

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: ABCC1: 1704C>T; Y568Y; rs8187858

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)

Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI

Publication Date: 2020

Variant appearance in text: rs8187858

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 3

View BVdb publication page

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Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Saudi Journal Of Biological Sciences

Aboul-Soud, Mourad A M MAM; Alzahrani, Alhussain J AJ; Mahmoud, Amer A

Publication Date: 2021-01

Variant appearance in text: ABCC1: Y568Y; rs8187858

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, 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: ABCC1: 1704C>T; Y568Y; rs8187858

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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Targeted next generation sequencing as a tool for precision medicine.

Bmc Medical Genomics

Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI

Publication Date: 2019-06-03

Variant appearance in text: ABCC1: Y568Y; rs8187858

PubMed Link: 31159795

Variant Present in the following documents:

• 12920_2019_527_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Genetic variants and cognitive functions in patients with brain tumors.

Neuro-Oncology

Correa, Denise D DD; Satagopan, Jaya J; Martin, Axel A; Braun, Erica E; Kryza-Lacombe, Maria M; Cheung, Kenneth K; Sharma, Ajay A; Dimitriadoy, Sofia S; O'Connell, Kelli K; Leong, Siok S; Karimi, Sasan S; Lyo, John J; DeAngelis, Lisa M LM; Orlow, Irene I

Publication Date: 2019-10-09

Variant appearance in text: rs8187858

PubMed Link: 31123752

Variant Present in the following documents:

• Main text

View BVdb publication page

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ATP-Binding Cassette Transporters in the Clinical Implementation of Pharmacogenetics.

Journal Of Personalized Medicine

López-Fernández, Luis A LA

Publication Date: 2018-12-05

Variant appearance in text: ABCC1: 1704C>T; Tyr568Tyr; rs8187858

PubMed Link: 30563187

Variant Present in the following documents:

• jpm-08-00040-s001.xlsx, sheet 1

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: ABCC1: Y568Y

PubMed Link: 29285300

Variant Present in the following documents:

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

View BVdb publication page

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A human neurodevelopmental model for Williams syndrome.

Nature

Chailangkarn, Thanathom T; Trujillo, Cleber A CA; Freitas, Beatriz C BC; Hrvoj-Mihic, Branka B; Herai, Roberto H RH; Yu, Diana X DX; Brown, Timothy T TT; Marchetto, Maria C MC; Bardy, Cedric C; McHenry, Lauren L; Stefanacci, Lisa L; Järvinen, Anna A; Searcy, Yvonne M YM; DeWitt, Michelle M; Wong, Wenny W; Lai, Philip P; Ard, M Colin MC; Hanson, Kari L KL; Romero, Sarah S; Jacobs, Bob B; Dale, Anders M AM; Dai, Li L; Korenberg, Julie R JR; Gage, Fred H FH; Bellugi, Ursula U; Halgren, Eric E; Semendeferi, Katerina K; Muotri, Alysson R AR

Publication Date: 2016-08-18

Variant appearance in text: rs8187858

PubMed Link: 27509850

Variant Present in the following documents:

• NIHMS800474-supplement-supp_info.pdf

View BVdb publication page

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Neurocognitive functioning and genetic variation in patients with primary brain tumours.

The Lancet. Oncology

Wefel, Jeffrey S JS; Noll, Kyle R KR; Scheurer, Michael E ME

Publication Date: 2016-03

Variant appearance in text: rs8187858

PubMed Link: 26972863

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic polymorphisms are associated with hair, blood, and urine mercury levels in the American Dental Association (ADA) study participants.

Environmental Research

Parajuli, Rajendra Prasad RP; Goodrich, Jaclyn M JM; Chou, Hwai-Nan HN; Gruninger, Stephen E SE; Dolinoy, Dana C DC; Franzblau, Alfred A; Basu, Niladri N

Publication Date: 2016-08

Variant appearance in text: rs8187858

PubMed Link: 26673400

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation of the ABC transporter gene ABCC1 (Multidrug resistance protein 1-MRP1) in the Polish population.

Bmc Genetics

Słomka, Marcin M; Sobalska-Kwapis, Marta M; Korycka-Machała, Małgorzata M; Bartosz, Grzegorz G; Dziadek, Jarosław J; Strapagiel, Dominik D

Publication Date: 2015-09-23

Variant appearance in text: ABCC1: Tyr568=; rs8187858

PubMed Link: 26395522

Variant Present in the following documents:

• Main text
• 12863_2015_Article_271.pdf

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: ABCC1: Y568Y; rs8187858

PubMed Link: 25944692

Variant Present in the following documents:

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

View BVdb publication page

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Genetic Modulation of Neurocognitive Function in Glioma Patients.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Liu, Yanhong Y; Zhou, Renke R; Sulman, Erik P EP; Scheurer, Michael E ME; Boehling, Nicholas N; Armstrong, Georgina N GN; Tsavachidis, Spiridon S; Liang, Fu-Wen FW; Etzel, Carol J CJ; Conrad, Charles A CA; Gilbert, Mark R MR; Armstrong, Terri S TS; Bondy, Melissa L ML; Wefel, Jeffrey S JS

Publication Date: 2015-07-15

Variant appearance in text: rs8187858

PubMed Link: 25904748

Variant Present in the following documents:

• Main text

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: rs8187858

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

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: ABCC1: Y568Y; rs8187858

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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: rs8187858

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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Pharmacogenomic characterization of gemcitabine response--a framework for data integration to enable personalized medicine.

Pharmacogenetics And Genomics

Harris, Michael M; Bhuvaneshwar, Krithika K; Natarajan, Thanemozhi T; Sheahan, Laura L; Wang, Difei D; Tadesse, Mahlet G MG; Shoulson, Ira I; Filice, Ross R; Steadman, Kenneth K; Pishvaian, Michael J MJ; Madhavan, Subha S; Deeken, John J

Publication Date: 2014-02

Variant appearance in text: rs8187858

PubMed Link: 24401833

Variant Present in the following documents:

• Main text

View BVdb publication page

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Nucleotide sequence analyses of the MRP1 gene in four populations suggest negative selection on its coding region.

Bmc Genomics

Wang, Zihua Z; Sew, Pui-Hoon PH; Ambrose, Helen H; Ryan, Stephen S; Chong, Samuel S SS; Lee, Edmund J D EJ; Lee, Caroline G L CG

Publication Date: 2006-05-10

Variant appearance in text: rs8187858

PubMed Link: 16684361

Variant Present in the following documents:

• Main text
• 1471-2164-7-111.pdf

View BVdb publication page

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