Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15
Variant appearance in text: SLCO1B1: 597C>T; Phe199=
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: F199F; rs2291075
Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing.
Frontiers In Pharmacology
Silgado-Guzmán, Daniel Felipe DF; Angulo-Aguado, Mariana M; Morel, Adrien A; Niño-Orrego, María José MJ; Ruiz-Torres, Daniel-Armando DA; Contreras Bravo, Nora Constanza NC; Restrepo, Carlos Martin CM; Ortega-Recalde, Oscar O; Fonseca-Mendoza, Dora Janeth DJ
Publication Date: 2022
Variant appearance in text: SLCO1B1: 597C>T; Phe199=; rs2291075
Role of Pharmacogenetics in the Treatment of Acute Myeloid Leukemia: Systematic Review and Future Perspectives.
Pharmaceutics
Pinto-Merino, Álvaro Á; Labrador, Jorge J; Zubiaur, Pablo P; Alcaraz, Raquel R; Herrero, María José MJ; Montesinos, Pau P; Abad-Santos, Francisco F; Saiz-Rodríguez, Miriam M
Publication Date: 2022-03-03
Variant appearance in text: SLCO1B1: 597C>T; rs2291075
Pharmacogene Sequencing of a Gabonese Population with Severe Plasmodium falciparum Malaria Reveals Multiple Novel Variants with Putative Relevance for Antimalarial Treatment.
Antimicrobial Agents And Chemotherapy
Pernaute-Lau, Leyre L; Adegnika, Ayola Akim AA; Zhou, Yitian Y; Zinsou, Jeannot F JF; Gil, Jose Pedro JP; Krishna, Sanjeev S; Kremsner, Peter G PG; Lauschke, Volker M VM; Velavan, Thirumalaisamy P TP
Prevalence of pharmacogenomic variants in 100 pharmacogenes among Southeast Asian populations under the collaboration of the Southeast Asian Pharmacogenomics Research Network (SEAPharm).
Human Genome Variation
Runcharoen, Chakkaphan C; Fukunaga, Koya K; Sensorn, Insee I; Iemwimangsa, Nareenart N; Klumsathian, Sommon S; Tong, Hang H; Vo, Nam Sy NS; Le, Ly L; Hlaing, Tin Maung TM; Thant, Myo M; Zain, Shamsul Mohd SM; Mohamed, Zahurin Z; Pung, Yuh-Fen YF; Capule, Francis F; Nevado, Jose J; Silao, Catherine Lynn CL; Al-Mahayri, Zeina N ZN; Ali, Bassam R BR; Yuliwulandari, Rika R; Prayuni, Kinasih K; Zahroh, Hilyatuz H; Noor, Dzul Azri Mohamed DAM; Xangsayarath, Phonepadith P; Xayavong, Dalouny D; Kounnavong, Sengchanh S; Sayasone, Somphou S; Kordou, Zoe Z; Liopetas, Ioannis I; Tsikrika, Athina A; Tsermpini, Evangelia-Eirini EE; Koromina, Maria M; Mitropoulou, Christina C; Patrinos, George P GP; Kesornsit, Aumpika A; Charoenyingwattana, Angkana A; Wattanapokayakit, Sukanya S; Mahasirimongkol, Surakameth S; Mushiroda, Taisei T; Chantratita, Wasun W
The influence of recipient SLCO1B1 rs2291075 polymorphism on tacrolimus dose-corrected trough concentration in the early period after liver transplantation.
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: 597C>T; F199F; rs2291075
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
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: F199F; rs2291075
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: F199F; rs2291075
Evaluation of the impact of single-nucleotide polymorphisms on treatment response, survival and toxicity with cytarabine and anthracyclines in patients with acute myeloid leukaemia: a systematic review protocol.
Systematic Reviews
Puty, Taynah Cascaes TC; Sarraf, Jonathan Souza JS; Do Carmo Almeida, Tabata Cristina TC; Filho, Valter Cordeiro Barbosa VCB; de Carvalho, Luis Eduardo Werneck LEW; Fonseca, Fernando Luiz Affonso FLA; Adami, Fernando F
Gene-environment interaction and maternal arsenic methylation efficiency during pregnancy.
Environment International
Gao, Shangzhi S; Mostofa, Md Golam MG; Quamruzzaman, Quazi Q; Rahman, Mahmudur M; Rahman, Mohammad M; Su, Li L; Hsueh, Yu-Mei YM; Weisskopf, Marc M; Coull, Brent B; Christiani, David C DC
The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.
Nature Communications
Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM
Publication Date: 2018-09-10
Variant appearance in text: SLCO1B1: 597C>T; F199F
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.
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
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
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: F199F; rs2291075
Allele Frequencies of the Single Nucleotide Polymorphisms Related to the Body Burden of Heavy Metals in the Korean Population and Their Ethnic Differences.
Toxicological Research
Eom, Sang-Yong SY; Lim, Ji-Ae JA; Kim, Yong-Dae YD; Choi, Byung-Sun BS; Hwang, Myung Sil MS; Park, Jung-Duck JD; Kim, Heon H; Kwon, Ho-Jang HJ
DMET™ (Drug Metabolism Enzymes and Transporters): a pharmacogenomic platform for precision medicine.
Oncotarget
Arbitrio, Mariamena M; Di Martino, Maria Teresa MT; Scionti, Francesca F; Agapito, Giuseppe G; Guzzi, Pietro Hiram PH; Cannataro, Mario M; Tassone, Pierfrancesco P; Tagliaferri, Pierosandro P
Publication Date: 2016-08-16
Variant appearance in text: SLCO1B1: 597C>T; rs2291075
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: 597C>T; Phe199Phe; rs2291075
Inherited variation in OATP1B1 is associated with treatment outcome in acute myeloid leukemia.
Clinical Pharmacology And Therapeutics
Drenberg, C D CD; Paugh, S W SW; Pounds, S B SB; Shi, L L; Orwick, S J SJ; Li, L L; Hu, S S; Gibson, A A AA; Ribeiro, R C RC; Rubnitz, J E JE; Evans, W E WE; Sparreboom, A A; Baker, S D SD
Publication Date: 2016-06
Variant appearance in text: SLCO1B1: 597C>T; F199F; rs2291075
Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes: A GeT-RM Collaborative Project.
The Journal Of Molecular Diagnostics : Jmd
Pratt, Victoria M VM; Everts, Robin E RE; Aggarwal, Praful P; Beyer, Brittany N BN; Broeckel, Ulrich U; Epstein-Baak, Ruth R; Hujsak, Paul P; Kornreich, Ruth R; Liao, Jun J; Lorier, Rachel R; Scott, Stuart A SA; Smith, Chingying Huang CH; Toji, Lorraine H LH; Turner, Amy A; Kalman, Lisa V LV
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: F199F; rs2291075
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; ,
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