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
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: UGT2B7: 372A>G; Arg124=; rs28365063
Evaluation of clinical and genetic factors in the population pharmacokinetics of carbamazepine.
British Journal Of Clinical Pharmacology
Yip, Vincent L M VLM; Pertinez, Henry H; Meng, Xiaoli X; Maggs, James L JL; Carr, Daniel F DF; Park, B Kevin BK; Marson, Anthony G AG; Pirmohamed, Munir M
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: UGT2B7: R124R; rs28365063
Effects of Comedication and Genetic Factors on the Population Pharmacokinetics of Lamotrigine: A Prospective Analysis in Chinese Patients With Epilepsy.
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: UGT2B7: R124R; rs28365063
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: UGT2B7: 372A>G; Arg124Arg; rs28365063
An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3'-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients.
Frontiers In Genetics
Swart, Marelize M; Evans, Jonathan J; Skelton, Michelle M; Castel, Sandra S; Wiesner, Lubbe L; Smith, Peter J PJ; Dandara, Collet C
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: UGT2B7: R124R; rs28365063
Comprehensive variant screening of the UGT gene family.
Yonsei Medical Journal
Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Byung Lae BL; Kim, Lyoung Hyo LH; Namgoong, Suhg S; Kim, Ji On JO; Kim, Hae Deun HD; Kim, Young Hoon YH; Chung, Myeon Woo MW; Han, Soon Young SY; Shin, Hyoung Doo HD
IL1RN coding variant is associated with lower risk of acute respiratory distress syndrome and increased plasma IL-1 receptor antagonist.
American Journal Of Respiratory And Critical Care Medicine
Meyer, Nuala J NJ; Feng, Rui R; Li, Mingyao M; Zhao, Yang Y; Sheu, Chau-Chyun CC; Tejera, Paula P; Gallop, Robert R; Bellamy, Scarlett S; Rushefski, Melanie M; Lanken, Paul N PN; Aplenc, Richard R; O'Keefe, Grant E GE; Wurfel, Mark M MM; Christiani, David C DC; Christie, Jason D JD
Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy.
Pharmacogenomics
Puranik, Yogita Ghodke YG; Birnbaum, Angela K AK; Marino, Susan E SE; Ahmed, Ghada G; Cloyd, James C JC; Remmel, Rory P RP; Leppik, Ilo E IE; Lamba, Jatinder K JK