Non-coding and intergenic genetic variants of human arylamine N-acetyltransferase 2 (NAT2) gene are associated with differential plasma lipid and cholesterol levels and cardiometabolic disorders.
Frontiers In Pharmacology
Hong, Kyung U KU; Walls, Kennedy M KM; Hein, David W DW
NAT2 global landscape: Genetic diversity and acetylation statuses from a systematic review.
Plos One
Gutiérrez-Virgen, Jorge E JE; Piña-Pozas, Maricela M; Hernández-Tobías, Esther A EA; Taja-Chayeb, Lucia L; López-González, Ma de Lourdes ML; Meraz-Ríos, Marco A MA; Gómez, Rocío R
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
Embo Molecular Medicine
El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W
Publication Date: 2023-03-14
Variant appearance in text: NAT2: 803G>A; Arg268Lys
CYP2C19-rs4986893 confers risk to major depressive disorder and bipolar disorder in the Han Chinese population whereas ABCB1-rs1045642 acts as a protective factor.
Bmc Psychiatry
Zhang, Ting T; Rao, Qingmin Q; Lin, Kangguang K; He, Yongyin Y; Cai, Jintai J; Yang, Mengxin M; Xu, Ying Y; Hou, Le L; Lin, Yulong Y; Liu, Haiying H
Global estimates and determinants of antituberculosis drug pharmacokinetics in children and adolescents: a systematic review and individual patient data meta-analysis.
The European Respiratory Journal
Gafar, Fajri F; Wasmann, Roeland E RE; McIlleron, Helen M HM; Aarnoutse, Rob E RE; Schaaf, H Simon HS; Marais, Ben J BJ; Agarwal, Dipti D; Antwi, Sampson S; Bang, Nguyen D ND; Bekker, Adrie A; Bell, David J DJ; Chabala, Chishala C; Choo, Louise L; Davies, Geraint R GR; Day, Jeremy N JN; Dayal, Rajeshwar R; Denti, Paolo P; Donald, Peter R PR; Engidawork, Ephrem E; Garcia-Prats, Anthony J AJ; Gibb, Diana D; Graham, Stephen M SM; Hesseling, Anneke C AC; Heysell, Scott K SK; Idris, Misgana I MI; Kabra, Sushil K SK; Kinikar, Aarti A; Hemanth Kumar, Agibothu K AK; Kwara, Awewura A; Lodha, Rakesh R; Magis-Escurra, Cecile C; Martinez, Nilza N; Mathew, Binu S BS; Mave, Vidya V; Mduma, Estomih E; Mlotha-Mitole, Rachel R; Mpagama, Stellah G SG; Mukherjee, Aparna A; Nataprawira, Heda M HM; Peloquin, Charles A CA; Pouplin, Thomas T; Ramachandran, Geetha G; Ranjalkar, Jaya J; Roy, Vandana V; Ruslami, Rovina R; Shah, Ira I; Singh, Yatish Y; Sturkenboom, Marieke G G MGG; Svensson, Elin M EM; Swaminathan, Soumya S; Thatte, Urmila U; Thee, Stephanie S; Thomas, Tania A TA; Tikiso, Tjokosela T; Touw, Daan J DJ; Turkova, Anna A; Velpandian, Thirumurthy T; Verhagen, Lilly M LM; Winckler, Jana L JL; Yang, Hongmei H; Yunivita, Vycke V; Taxis, Katja K; Stevens, Jasper J; Alffenaar, Jan-Willem C JC; ,
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
Outcomes of Genetic Testing-Based Cardiac Rehabilitation Program in Patients with Acute Myocardial Infarction after Percutaneous Coronary Intervention.
Influence of N-acetyltransferase 2 (NAT2) genotype/single nucleotide polymorphisms on clearance of isoniazid in tuberculosis patients: a systematic review of population pharmacokinetic models.
European Journal Of Clinical Pharmacology
Thomas, Levin L; Raju, Arun Prasath AP; Chaithra, ; M, Sonal Sekhar SS; Varma, Muralidhar M; Saravu, Kavitha K; Banerjee, Mithu M; Sv, Chidananda Sanju CS; Mallayasamy, Surulivelrajan S; Rao, Mahadev M
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: NAT2: 803G>A; Arg268Lys; rs1208
Allelic and genotypic frequencies of NAT2, CYP2E1, and AADAC genes in a cohort of Peruvian tuberculosis patients.
Molecular Genetics & Genomic Medicine
Levano, Kelly S KS; Jaramillo-Valverde, Luis L; Tarazona, David D DD; Sanchez, Cesar C; Capristano, Silvia S; Vásquez-Loarte, Tania T; Solari, Lely L; Mendoza-Ticona, Alberto A; Soto, Alonso A; Rojas, Christian C; Zegarra-Chapoñan, Roberto R; Guio, Heinner H
Allelic and genotypic frequencies of NAT2, CYP2E1, and AADAC genes in a cohort of Peruvian tuberculosis patients.
Molecular Genetics & Genomic Medicine
Levano, Kelly S KS; Jaramillo-Valverde, Luis L; Tarazona, David D DD; Sanchez, Cesar C; Capristano, Silvia S; Vásquez-Loarte, Tania T; Solari, Lely L; Mendoza-Ticona, Alberto A; Soto, Alonso A; Rojas, Christian C; Zegarra-Chapoñan, Roberto R; Guio, Heinner H
Population Pharmacokinetics and Significant Under-Dosing of Anti-Tuberculosis Medications in People with HIV and Critical Illness.
Antibiotics (Basel, Switzerland)
Rao, Prakruti S PS; Moore, Christopher C CC; Mbonde, Amir A AA; Nuwagira, Edwin E; Orikiriza, Patrick P; Nyehangane, Dan D; Al-Shaer, Mohammad H MH; Peloquin, Charles A CA; Gratz, Jean J; Pholwat, Suporn S; Arinaitwe, Rinah R; Boum, Yap Y; Mwanga-Amumpaire, Juliet J; Houpt, Eric R ER; Kagan, Leonid L; Heysell, Scott K SK; Muzoora, Conrad C
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021
Variant appearance in text: NAT2: 803G>A; R268K; rs1208
Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype.
Pharmacogenomics And Personalized Medicine
Fonseca, Dora Janeth DJ; Morel, Adrien A; Llinás-Caballero, Kevin K; Bolívar-Salazar, David D; Laissue, Paul P
Publication Date: 2021
Variant appearance in text: NAT2: 803G>A; Arg268Lys; rs1208
Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Acetylator Genotype-Dependent Dyslipidemia in Rats Congenic for N-Acetyltransferase 2.
Toxicology Reports
Hong, Kyung U KU; Doll, Mark A MA; Lykoudi, Angeliki A; Salazar-González, Raúl A RA; Habil, Mariam R MR; Walls, Kennedy M KM; Bakr, Alaa F AF; Ghare, Smita S SS; Barve, Shirish S SS; Arteel, Gavin E GE; Hein, David W DW