Common and rare variants in patients with early onset drusen maculopathy.
Clinical Genetics
de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI
Publication Date: 2022-11
Variant appearance in text: NAT1: 559C>T; Arg187Ter
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: NAT1: 559C>T; Arg187Ter; rs5030839
560G>A (rs4986782) (R187Q) Single Nucleotide Polymorphism in Arylamine N-Acetyltransferase 1 Increases Affinity for the Aromatic Amine Carcinogens 4-Aminobiphenyl and N-Hydroxy-4-Aminobiphenyl: Implications for Cancer Risk Assessment.
The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations.
Frontiers In Pharmacology
da Rocha, Jorge E B JEB; Othman, Houcemeddine H; Botha, Gerrit G; Cottino, Laura L; Twesigomwe, David D; Ahmed, Samah S; Drögemöller, Britt I BI; Fadlelmola, Faisal M FM; Machanick, Philip P; Mbiyavanga, Mamana M; Panji, Sumir S; Wright, Galen E B GEB; Adebamowo, Clement C; Matshaba, Mogomotsi M; Ramsay, Michéle M; Simo, Gustave G; Simuunza, Martin C MC; Tiemessen, Caroline T CT; Baldwin, Sandra S; Chiano, Mathias M; Cox, Charles C; Gross, Annette S AS; Thomas, Pamela P; Gamo, Francisco-Javier FJ; Hazelhurst, Scott S
Individualized Drugs' Selection by Evaluation of Drug Properties, Pharmacogenomics and Clinical Parameters: Performance of a Bioinformatic Tool Compared to a Clinically Established Counselling Process.
Pharmacogenomics And Personalized Medicine
Borro, Marina M; Gentile, Giovanna G; Preissner, Sally H SH; Pomes, Leda Marina LM; Gohlke, Björn-Oliver BO; Del Casale, Antonio A; Eckert, Andreas A; Marchetti, Paolo P; Preissner, Saskia S; Preissner, Robert R; Simmaco, Maurizio M
Drug-Drug Interactions and Pharmacogenomic Evaluation in Colorectal Cancer Patients: The New Drug-PIN® System Comprehensive Approach.
Pharmaceuticals (Basel, Switzerland)
Roberto, Michela M; Rossi, Alessandro A; Panebianco, Martina M; Pomes, Leda Marina LM; Arrivi, Giulia G; Ierinò, Debora D; Simmaco, Maurizio M; Marchetti, Paolo P; Mazzuca, Federica F
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: NAT1: 559C>T; R187X; rs5030839
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: NAT1: R187X; rs5030839
K-variant BCHE and pesticide exposure: Gene-environment interactions in a case-control study of Parkinson's disease in Egypt.
Scientific Reports
Rösler, Thomas W TW; Salama, Mohamed M; Shalash, Ali S AS; Khedr, Eman M EM; El-Tantawy, Abdelhalim A; Fawi, Gharib G; El-Motayam, Amal A; El-Seidy, Ehab E; El-Sherif, Mohamed M; El-Gamal, Mohamed M; Moharram, Mohamed M; El-Kattan, Mohammad M; Abdel-Naby, Muhammad M; Ashour, Samia S; Müller, Ulrich U; Dempfle, Astrid A; Kuhlenbäumer, Gregor G; Höglinger, Günter U GU
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01
Variant appearance in text: NAT1: R187X; rs5030839
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25
Variant appearance in text: NAT1: R187X; rs5030839
Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy.
Vision Research
Ung, Cindy C; Sanchez, Angie V AV; Shen, Lishuang L; Davoudi, Samaneh S; Ahmadi, Tina T; Navarro-Gomez, Daniel D; Chen, Ching J CJ; Hancock, Heather H; Penman, Alan A; Hoadley, Suzanne S; Consugar, Mark M; Restrepo, Carlos C; Shah, Vinay A VA; Arboleda-Velasquez, Joseph F JF; Sobrin, Lucia L; Gai, Xiaowu X; Kim, Leo A LA
Sacral agenesis: a pilot whole exome sequencing and copy number study.
Bmc Medical Genetics
Porsch, Robert M RM; Merello, Elisa E; De Marco, Patrizia P; Cheng, Guo G; Rodriguez, Laura L; So, Manting M; Sham, Pak C PC; Tam, Paul K PK; Capra, Valeria V; Cherny, Stacey S SS; Garcia-Barcelo, Maria-Mercè MM; Campbell, Desmond D DD
Publication Date: 2016-12-22
Variant appearance in text: NAT1: 559C>T; R187*; rs5030839
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
Fire Usage and Ancient Hominin Detoxification Genes: Protective Ancestral Variants Dominate While Additional Derived Risk Variants Appear in Modern Humans.
Plos One
Aarts, Jac M M J G JM; Alink, Gerrit M GM; Scherjon, Fulco F; MacDonald, Katharine K; Smith, Alison C AC; Nijveen, Harm H; Roebroeks, Wil W
Publication Date: 2016
Variant appearance in text: NAT1: Arg187Ter; rs5030839
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
Screening for 392 polymorphisms in 141 pharmacogenes.
Biomedical Reports
Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Tae-Joon TJ; Shin, Hee Jung HJ; Seo, Doo Won DW; Na, Han Sung HS; Chung, Myeon Woo MW; Shin, Hyoung Doo HD
Publication Date: 2014-07
Variant appearance in text: NAT1: 559C>T; R187X; rs5030839
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Using gene-environment interaction analyses to clarify the role of well-done meat and heterocyclic amine exposure in the etiology of colorectal polyps.
The American Journal Of Clinical Nutrition
Fu, Zhenming Z; Shrubsole, Martha J MJ; Li, Guoliang G; Smalley, Walter E WE; Hein, David W DW; Chen, Zhi Z; Shyr, Yu Y; Cai, Qiuyin Q; Ness, Reid M RM; Zheng, Wei W
Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control study.
Bmc Medical Genetics
Potts, Lisa F LF; Cambon, Alex C AC; Ross, Owen A OA; Rademakers, Rosa R; Dickson, Dennis W DW; Uitti, Ryan J RJ; Wszolek, Zbigniew K ZK; Rai, Shesh N SN; Farrer, Matthew J MJ; Hein, David W DW; Litvan, Irene I
No association between variant N-acetyltransferase genes, cigarette smoking and Prostate Cancer susceptibility among men of African descent.
Biomarkers In Cancer
Kidd, La Creis Renee LC; Vancleave, Tiva T TT; Doll, Mark A MA; Srivastava, Daya S DS; Thacker, Brandon B; Komolafe, Oyeyemi O; Pihur, Vasyl V; Brock, Guy N GN; Hein, David W DW