Results 91 to 100 of about 109,284 (237)

PharmVar GeneFocus: NAT2—Genetic Variation and Updated Nomenclature

Clinical Pharmacology &Therapeutics, EarlyView.
The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the highly polymorphic human N‐acetyltransferase 2 (NAT2) gene. NAT2 metabolizes several clinically used drugs including isoniazid, hydralazine, amifampridine, procainamide, and sulfonamides such as dapsone, and also some highly carcinogenic arylamines.
Georgia Papanikolaou, Estella S. Poloni, José A.G. Agúndez, Raquel L.F. Teixeira, Erin C. Boone, Adalberto Rezende Santos, Michelle Whirl‐Carrillo, Katrin Sangkuhl, Teri E. Klein, Mariam R. Habil, Giannoulis Fakis, Rodney F. Minchin, David W. Hein, Sotiria Boukouvala, Andrea Gaedigk   +14 more
wiley   +1 more source

Improving Genotype Imputation in High‐Dimensional Pharmacogenomics Using Multiple Imputation: Evaluation with Machine Learning Approaches

Clinical Pharmacology &Therapeutics, EarlyView.
Multiple imputation is well‐established for handling missing data, yet its use in high‐dimensional genetic datasets remains limited. Using pharmacokinetic tuberculosis simulations and SNP data (1000 Genomes Project), we compared machine learning (ML) and traditional approaches (e.g., mean imputation and complete‐case analysis) for imputation and ...
Innocent G. Asiimwe, Tao You, Daniel F. Carr, Munir Pirmohamed, Geraint Davies, Andrea L. Jorgensen, on behalf of the UNITE4TB Consortium   +6 more
wiley   +1 more source

Pharmacogenomics of Major Depressive Disorder in Indigenous Amazonian Populations

Clinical Pharmacology &Therapeutics, EarlyView.
Major depressive disorder is a highly prevalent psychological disorder worldwide and its main treatment is the use of Selective Serotonin Reuptake Inhibitors. However, few studies have demonstrated the relationship between the presence of genetic variants in pharmacogenes and the efficacy of these drugs, especially in populations with a unique genetic ...
Kaio Evandro Cardoso Aguiar, Natasha Monte da Silva, Juliana Carla Gomes Rodrigues, André Maurício Ribeiro‐dos‐Santos, Sandro José de Souza, Ândrea Ribeiro‐dos‐Santos, João Farias Guerreiro, Sidney Emanuel Batista dos Santos, Marianne Rodrigues Fernandes, Ney Pereira Carneiro dos Santos   +9 more
wiley   +1 more source

Haplotypes of Echinococcus granulosus sensu stricto in Chile and Their Comparison Through Sequences of the Mitochondrial cox1 Gene with Haplotypes from South America and Other Continents

Parasitologia
Cystic echinococcosis is a zoonosis caused by the cestode Echinococcus granulosus sensu stricto. Population genetic studies and phylogeographic patterns are essential to understanding the transmission dynamics of this parasite under varying environmental
Nicole Urriola-Urriola, Gabriela Rossi-Vargas, Yenny Nilo-Bustios   +2 more
doaj   +1 more source

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Thiopurine Dosing Based on TPMT and NUDT15 Genotypes: 2025 Update

Clinical Pharmacology &Therapeutics, EarlyView.
Thiopurine methyltransferase (TPMT) and Nudix hydrolase 15 (NUDT15) are key enzymes that catabolize thiopurines. Decreased or no‐function alleles in TPMT and NUDT15 are associated with reduced or no enzyme activity and predictive of pronounced adverse effects, including severe myelosuppression, that may occur among individuals treated with standard ...
Maud Maillard, Matthias Schwab, Michelle Whirl‐Carrillo, Ann M. Moyer, Guilherme Suarez‐Kurtz, Ching‐Hon Pui, C. Michael Stein, Teri E. Klein, Claire Spahn, Sooyeon Kwon, Juanda Leo Hartono, Nanne K. de Boer, Tariq Ahmad, Federico Guillermo Antillon‐Klussmann, Kelly E. Caudle, Motohiro Kato, Allen E. J. Yeoh, Kjeld Schmiegelow, Jun J. Yang   +18 more
wiley   +1 more source

AlphaFold2 Reveals Structural Patterns of Seasonal Haplotype Diversification in SARS-CoV-2 Spike Protein Variants

Biology
The slow experimental acquisition of high-quality atomic structures of the rapidly changing proteins of the COVID-19 virus challenges vaccine and therapeutic drug development efforts.
Muhammad Asif Ali, Gustavo Caetano-Anollés   +1 more
doaj   +1 more source

A systematic review evaluating the performance of eDNA methods relative to conventional methods for biodiversity monitoring

Ecography, EarlyView.
The rapid adoption of environmental DNA (eDNA) methods has drastically changed biodiversity monitoring efforts. It is often claimed that eDNA methods are more sensitive and efficient than conventional biodiversity monitoring methods, but it is often unclear what metrics support this claim.
Nicholas J. Iacaruso, Olivia P. Reves, Sara J. Merkelz, Cassidy L. Waldrep, Mark A. Davis   +4 more
wiley   +1 more source

Polymorphisms of ITGA9 Gene and Their Correlation with Milk Quality Traits in Yak (Bos grunniens)

Foods
A single-nucleotide polymorphism (SNP) is a genome-level trait that arises from a variation in a single nucleotide, leading to diversity in DNA sequences. SNP screening is commonly used to provide candidate genes for yak breeding efforts.
Mengfan Zhang, Xita Zha, Xiaoming Ma, Yongfu La, Xian Guo, Min Chu, Pengjia Bao, Ping Yan, Xiaoyun Wu, Chunnian Liang   +9 more
doaj   +1 more source

β-globin haplotypes in normal and hemoglobinopathic individuals from Reconcavo Baiano, State of Bahia, Brazil

Genetics and Molecular Biology, 2010
Five restriction site polymorphisms in the β-globin gene cluster (HincII-5'ε, HindIII-Gγ, HindIII-ªγ, HincII-'ψβ1 and HincII-3''ψβ1) were analyzed in three populations (n = 114) from Reconcavo Baiano, State of ...
Wellington dos Santos Silva, Maria de Nazaré Klautau-Guimarães, Cesar Koppe Grisolia   +2 more
doaj  

The causal relationship between systemic lupus erythematosus and juvenile myoclonic epilepsy: A Mendelian randomization study and mediation analysis

Ibrain, Volume 11, Issue 1, Page 98-105, Spring 2025.
Mendelian randomization (MR) studies were conducted using the inverse‐variance weighted (IVW) method, MR‐Egger and weighted median on juvenile myoclonic epilepsy (JME), and systemic lupus erythematosus (SLE) data from the Integrative Epidemiology Unit (IEU) Open genome‐wide association study (GWAS) database and the International League Against Epilepsy
Sirui Chen, Ningning Zhang, Ruirui Zhang, Lan Zhang, Dadong Luo, Junqiang Li, Yaqing Liu, Yunan Wang, Xinyue Duan, Xin Tian, Tiancheng Wang   +10 more
wiley   +1 more source