Publications:

---

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: SLCO1B1: L191L; rs4149057

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

---

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: SLCO1B1: L191L; rs4149057

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2

View BVdb publication page

---

A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: SLCO1B1: L191L; rs4149057

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

---

Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers.

Frontiers In Pharmacology

Nie, Shanshan S; Chen, Kaifeng K; Guo, Chengxian C; Pei, Qi Q; Zou, Chan C; Yao, Liangyuan L; Yuan, Hongbo H; Zhao, Xia X; Xie, Ran R; He, Xu X; Huang, Jie J; Yang, Guoping G

Publication Date: 2021

Variant appearance in text: rs4149057

PubMed Link: 35280252

Variant Present in the following documents:

• Main text
• fphar-12-797278.pdf

View BVdb publication page

---

Pharmacogenetics of Drugs Used in the Treatment of Cancers.

Genes

Franczyk, Beata B; Rysz, Jacek J; Gluba-Brzózka, Anna A

Publication Date: 2022-02-07

Variant appearance in text: rs4149057

PubMed Link: 35205356

Variant Present in the following documents:

• Main text
• genes-13-00311.pdf

View BVdb publication page

---

Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Npj Genomic Medicine

Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C

Publication Date: 2022-02-18

Variant appearance in text: SLCO1B1: L191=

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Ensemble learning for the early prediction of neonatal jaundice with genetic features.

Bmc Medical Informatics And Decision Making

Deng, Haowen H; Zhou, Youyou Y; Wang, Lin L; Zhang, Cheng C

Publication Date: 2021-12-01

Variant appearance in text: rs4149057

PubMed Link: 34852805

Variant Present in the following documents:

• Main text
• 12911_2021_Article_1701.pdf

View BVdb publication page

---

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: SLCO1B1: 571T>C; L191L; rs4149057

PubMed Link: 34621706

Variant Present in the following documents:

• Main text
• tcp-29-135-s001.xls, sheet 1
• tcp-29-135.pdf

View BVdb publication page

---

Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: SLCO1B1: L191L; rs4149057

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

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: SLCO1B1: L191L; rs4149057

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

---

Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: SLCO1B1: 571T>C; L191L; rs4149057

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

---

Comprehensive Custom NGS Panel Validation for the Improvement of the Stratification of B-Acute Lymphoblastic Leukemia Patients.

Journal Of Personalized Medicine

Montaño, Adrián A; Hernández-Sánchez, Jesús J; Forero-Castro, Maribel M; Matorra-Miguel, María M; Lumbreras, Eva E; Miguel, Cristina C; Santos, Sandra S; Ramírez-Maldonado, Valentina V; Fuster, José Luís JL; de Las Heras, Natalia N; García-de Coca, Alfonso A; Sierra, Magdalena M; Dávila, Julio J; de la Fuente, Ignacio I; Olivier, Carmen C; Olazabal, Juan J; Martínez, Joaquín J; Vega-García, Nerea N; González, Teresa T; Hernández-Rivas, Jesús María JM; Benito, Rocío R

Publication Date: 2020-09-21

Variant appearance in text: rs4149057

PubMed Link: 32967112

Variant Present in the following documents:

• jpm-10-00137-s001.pdf

View BVdb publication page

---

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: SLCO1B1: 571T>C; L191L; rs4149057

PubMed Link: 32607875

Variant Present in the following documents:

• Main text
• 40262_2020_913_MOESM3_ESM.xlsx, sheet 1
• 40262_2020_Article_913.pdf
• 40262_2020_913_MOESM1_ESM.pdf

View BVdb publication page

---

Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Plos One

Singh, Richa R; Das, Shreya S; Datta, Sila S; Mazumdar, Anjana A; Biswas, Nidhan K NK; Maitra, Arindam A; Majumder, Partha P PP; Ghose, Sandip S; Roy, Bidyut B

Publication Date: 2020

Variant appearance in text: SLCO1B1: L191L; rs4149057

PubMed Link: 32492030

Variant Present in the following documents:

• pone.0233058.s001.xlsx, sheet 11
• pone.0233058.s001.xlsx, sheet 20

View BVdb publication page

---

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: rs4149057

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Genetic Diversity in Drug Transporters: Impact in African Populations.

Clinical And Translational Science

Rajman, Iris I; Knapp, Laura L; Hanna, Imad I

Publication Date: 2020-09

Variant appearance in text: rs4149057

PubMed Link: 32100958

Variant Present in the following documents:

• Main text
• CTS-13-848.pdf

View BVdb publication page

---

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: SLCO1B1: 571T>C; Leu191=

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

---

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: SLCO1B1: 571T>C; Leu191=; rs4149057

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

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: SLCO1B1: L191L; rs4149057

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

The Kronos Early Estrogen Prevention Study (KEEPS): what have we learned?

Menopause (New York, N.Y.)

Miller, Virginia M VM; Naftolin, Fredrick F; Asthana, Sanjay S; Black, Dennis M DM; Brinton, Eliot A EA; Budoff, Matthew J MJ; Cedars, Marcelle I MI; Dowling, N Maritza NM; Gleason, Carey E CE; Hodis, Howard N HN; Jayachandran, Muthuvel M; Kantarci, Kejal K; Lobo, Rogerio A RA; Manson, JoAnn E JE; Pal, Lubna L; Santoro, Nanette F NF; Taylor, Hugh S HS; Harman, S Mitchell SM

Publication Date: 2019-09

Variant appearance in text: rs4149057

PubMed Link: 31453973

Variant Present in the following documents:

• Main text
• menop-26-1071.pdf

View BVdb publication page

---

Pharmacogenomics Clinical Annotation Tool (PharmCAT).

Clinical Pharmacology And Therapeutics

Sangkuhl, Katrin K; Whirl-Carrillo, Michelle M; Whaley, Ryan M RM; Woon, Mark M; Lavertu, Adam A; Altman, Russ B RB; Carter, Lester L; Verma, Anurag A; Ritchie, Marylyn D MD; Klein, Teri E TE

Publication Date: 2020-01

Variant appearance in text: rs4149057

PubMed Link: 31306493

Variant Present in the following documents:

• CPT-107-203-s004.pdf
• CPT-107-203-s003.pdf

View BVdb publication page

---

A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: SLCO1B1: 571T>C

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

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: SLCO1B1: L191L; rs4149057

PubMed Link: 31159795

Variant Present in the following documents:

• 12920_2019_527_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

---

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: SLCO1B1: 571T>C; rs4149057

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

---

Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs4149057

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

---

A remarkable response to pazopanib, despite recurrent liver toxicity, in a patient with a high grade endometrial stromal sarcoma, a case report.

Bmc Cancer

Verschoor, Arie J AJ; Warmerdam, Fabiënne A R M FARM; Bosse, Tjalling T; Bovée, Judith V M G JVMG; Gelderblom, Hans H

Publication Date: 2018-01-22

Variant appearance in text: rs4149057

PubMed Link: 29357824

Variant Present in the following documents:

• Main text
• 12885_2018_Article_3999.pdf

View BVdb publication page

---

Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: SLCO1B1: L191L; rs4149057

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

---

Pharmacogenetic Analysis of the Model-Based Pharmacokinetics of Five Anti-HIV Drugs: How Does This Influence the Effect of Aging?

Clinical And Translational Science

Chen, Jingxian J; Akhtari, Farida S FS; Wagner, Michael J MJ; Suzuki, Oscar O; Wiltshire, Tim T; Motsinger-Reif, Alison A AA; Dumond, Julie B JB

Publication Date: 2018-03

Variant appearance in text: SLCO1B1: 571T>C; L191L; rs4149057

PubMed Link: 29205871

Variant Present in the following documents:

• Main text
• CTS-11-226.pdf

View BVdb publication page

---

Transporter Expression in Noncancerous and Cancerous Liver Tissue from Donors with Hepatocellular Carcinoma and Chronic Hepatitis C Infection Quantified by LC-MS/MS Proteomics.

Drug Metabolism And Disposition: The Biological Fate Of Chemicals

Billington, Sarah S; Ray, Adrian S AS; Salphati, Laurent L; Xiao, Guangqing G; Chu, Xiaoyan X; Humphreys, W Griffith WG; Liao, Mingxiang M; Lee, Caroline A CA; Mathias, Anita A; Hop, Cornelis E C A CECA; Rowbottom, Christopher C; Evers, Raymond R; Lai, Yurong Y; Kelly, Edward J EJ; Prasad, Bhagwat B; Unadkat, Jashvant D JD

Publication Date: 2018-02

Variant appearance in text: rs4149057

PubMed Link: 29138286

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: rs4149057

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

---

Molecular pathways associated with blood pressure and hexadecanedioate levels.

Plos One

Menni, Cristina C; Metrustry, Sarah J SJ; Ehret, Georg G; Dominiczak, Anna F AF; Chowienczyk, Phil P; Spector, Tim D TD; Padmanabhan, Sandosh S; Valdes, Ana M AM

Publication Date: 2017

Variant appearance in text: rs4149057

PubMed Link: 28403188

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: rs4149057

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

---

Loss of organic anion transporting polypeptide 1B3 function causes marked delay in indocyanine green clearance without any clinical symptoms.

Hepatology (Baltimore, Md.)

Kagawa, Tatehiro T; Adachi, Yukihiko Y; Hashimoto, Naoaki N; Mitsui, Hiroshi H; Ohashi, Tomohiko T; Yoneda, Masashi M; Hasegawa, Izumi I; Hirose, Shunji S; Tsuruya, Kota K; Anzai, Kazuya K; Mine, Tetsuya T

Publication Date: 2017-03

Variant appearance in text: SLCO1B1: 571T>C; L191L; rs4149057

PubMed Link: 27863442

Variant Present in the following documents:

• Main text
• HEP-65-1065.pdf

View BVdb publication page

---

Transporter Expression in Liver Tissue from Subjects with Alcoholic or Hepatitis C Cirrhosis Quantified by Targeted Quantitative Proteomics.

Drug Metabolism And Disposition: The Biological Fate Of Chemicals

Wang, Li L; Collins, Carol C; Kelly, Edward J EJ; Chu, Xiaoyan X; Ray, Adrian S AS; Salphati, Laurent L; Xiao, Guangqing G; Lee, Caroline C; Lai, Yurong Y; Liao, Mingxiang M; Mathias, Anita A; Evers, Raymond R; Humphreys, William W; Hop, Cornelis E C A CE; Kumer, Sean C SC; Unadkat, Jashvant D JD

Publication Date: 2016-11

Variant appearance in text: OATP1B1: L191L; rs4149057

PubMed Link: 27543206

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Clinically relevant genetic variants of drug-metabolizing enzyme and transporter genes detected in Thai children and adolescents with autism spectrum disorder.

Neuropsychiatric Disease And Treatment

Medhasi, Sadeep S; Pasomsub, Ekawat E; Vanwong, Natchaya N; Ngamsamut, Nattawat N; Puangpetch, Apichaya A; Chamnanphon, Montri M; Hongkaew, Yaowaluck Y; Limsila, Penkhae P; Pinthong, Darawan D; Sukasem, Chonlaphat C

Publication Date: 2016

Variant appearance in text: SLCO1B1: L191L; rs4149057

PubMed Link: 27110117

Variant Present in the following documents:

• Main text
• ndt-12-843.pdf

View BVdb publication page

---

Frequencies of single-nucleotide polymorphisms and haplotypes of the SLCO1B1 gene in selected populations of the western balkans.

Balkan Journal Of Medical Genetics : Bjmg

Grapci, A Daka AD; Dimovski, A J AJ; Kapedanovska, A A; Vavlukis, M M; Eftimov, A A; Geshkovska, N Matevska NM; Labachevski, N N; Jakjovski, K K; Gorani, D D; Kedev, S S; Mladenovska, K K

Publication Date: 2015-06

Variant appearance in text: SLCO1B1: 571T>C; Leu191Leu

PubMed Link: 26929901

Variant Present in the following documents:

• Main text
• bjmg-18-01-05.pdf

View BVdb publication page

---

Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: SLCO1B1: L191L; rs4149057

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2
• mmc3.xlsx, sheet 1

View BVdb publication page

---

Drug Metabolizing Enzyme and Transporter Gene Variation, Nicotine Metabolism, Prospective Abstinence, and Cigarette Consumption.

Plos One

Bergen, Andrew W AW; Michel, Martha M; Nishita, Denise D; Krasnow, Ruth R; Javitz, Harold S HS; Conneely, Karen N KN; Lessov-Schlaggar, Christina N CN; Hops, Hyman H; Zhu, Andy Z X AZ; Baurley, James W JW; McClure, Jennifer B JB; Hall, Sharon M SM; Baker, Timothy B TB; Conti, David V DV; Benowitz, Neal L NL; Lerman, Caryn C; Tyndale, Rachel F RF; Swan, Gary E GE; ,

Publication Date: 2015

Variant appearance in text: rs4149057

PubMed Link: 26132489

Variant Present in the following documents:

• Main text
• pone.0126113.pdf

View BVdb publication page

---

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: SLCO1B1: L191L; rs4149057

PubMed Link: 25944692

Variant Present in the following documents:

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

View BVdb publication page

---

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: rs4149057

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

---

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: SLCO1B1: L191L; rs4149057

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

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: N/A

PubMed Link: 25333361

Variant Present in the following documents:

View BVdb publication page

---

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: rs4149057

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

---

Interindividual variability in hepatic organic anion-transporting polypeptides and P-glycoprotein (ABCB1) protein expression: quantification by liquid chromatography tandem mass spectroscopy and influence of genotype, age, and sex.

Drug Metabolism And Disposition: The Biological Fate Of Chemicals

Prasad, Bhagwat B; Evers, Raymond R; Gupta, Anshul A; Hop, Cornelis E C A CE; Salphati, Laurent L; Shukla, Suneet S; Ambudkar, Suresh V SV; Unadkat, Jashvant D JD

Publication Date: 2014-01

Variant appearance in text: OATP1B1: L191L; rs4149057

PubMed Link: 24122874

Variant Present in the following documents:

• Main text

View BVdb publication page

---

OATP1B1-related drug-drug and drug-gene interactions as potential risk factors for cerivastatin-induced rhabdomyolysis.

Pharmacogenetics And Genomics

Tamraz, Bani B; Fukushima, Hisayo H; Wolfe, Alan R AR; Kaspera, Rüdiger R; Totah, Rheem A RA; Floyd, James S JS; Ma, Benjamin B; Chu, Catherine C; Marciante, Kristin D KD; Heckbert, Susan R SR; Psaty, Bruce M BM; Kroetz, Deanna L DL; Kwok, Pui-Yan PY

Publication Date: 2013-07

Variant appearance in text: SLCO1B1: L191L; rs4149057

PubMed Link: 23652407

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genotyping of OATP2 Variants in a Group of Malaysian Neonates Using High-Resolution Melting Analysis.

Bioresearch Open Access

Wong, Fei Liang FL; Boo, Nem Yun NY; Othman, Ainoon A

Publication Date: 2012-04

Variant appearance in text: SLCO1B1: 571T>C

PubMed Link: 23514972

Variant Present in the following documents:

• Main text
• biores.2012.0219.pdf

View BVdb publication page

---