Results 111 to 120 of about 256,625 (325)

Breakpoint Cloning and Haplotype Analysis Indicate a Single Origin of the Common Inv(10)(p11.2q21.2) Mutation among Northern Europeans [PDF]

, 2006
Mette Gilling, J Dullinger, Stefan Gesk, Simone Metzke‐Heidemann, Reiner Siebert, Thomas Meyer, Karen Brøndum‐Nielsen, Niels Tommerup, Hans‐Hilger Ropers, Zeynep Tümer, Vera M. Kalscheuer, N. Simon Thomas   +11 more
openalex   +1 more source

Lower Dose‐Normalized Tacrolimus Exposure in CYP3A5*6 vs. *3 Loss‐of‐Function Allele Carriers: A Longitudinal Retrospective Real‐World Study in Kidney Transplant Recipients

Clinical Pharmacology &Therapeutics, EarlyView.
Pharmacogenomic research has historically focused on individuals of European ancestry, leading to the underrepresentation of genetic variants common in non‐European populations. This bias is exemplified by CYP3A5*6, a functionally consequential variant common in individuals of African ancestry (MAF: 11–19%) but virtually absent in Europeans (MAF: 0.15%)
Amar D. Levens, Dirk Jan A. R. Moes, Yanick Boer, Aiko P. J. de Vries, Dorottya K. de Vries, Danny van der Helm, Soufian Meziyerh, Dave L. Roelen, Stefan Böhringer, Teun Van Gelder, Jesse J. Swen   +10 more
wiley   +1 more source

Monitoring drought responses of barley genotypes with semi-robotic phenotyping platform and association analysis between recorded traits and allelic variants of some stress genes [PDF]

, 2013
Genetic improvement of complex traits such as drought adaptation can be advanced by the combination of genomic and phenomic approaches. Semi-robotic phenotyping platform was used for computer-controlled watering, digital and thermal imaging of barley ...
Cseri, András, Dudits, Dénes, Pauk, János, Sass, László, Törjék, Ottó, Vass, Imre   +5 more
core  

Neither Donor nor Recipient Mitochondrial Haplotypes Are Associated with Unrelated Donor Transplant Outcomes: A Validation Study from the CIBMTR

, 2021
Logan G. Spector, Stephen R. Spellman, Bharat Thyagarajan, Kenneth B. Beckman, Cody Hoffmann, John Garbe, Theresa Hahn, Lara E. Sucheston‐Campbell, Michaela Richardson, Todd E De For, Jakub Tolar, Michael R. Verneris   +11 more
openalex   +1 more source

Type 1 diabetes mellitus after cord blood transplantation from an unrelated donor with a disease‐sensitive haplotype [PDF]

, 2022
Kensuke Matsumoto, Taisuke Matsuyama, Ritsu Sumiyoshi, Takuji Matsuo, Tadashi Yamamoto, Ryosuke Shirasaki, Haruko Tashiro   +6 more
openalex   +1 more source

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

A key to selected rockfishes (Sebastes spp.) based on mitochondrial DNA restriction fragment analysis [PDF]

, 2006
Larval and juvenile rockfishes (Sebastes spp.) are difficult to identify using morphological characters. We developed a key based on sizes of restriction endonuclease fragments of the NADH dehydrogenase-3 and -4 (ND3/ND4) and 12S and 16S ribosomal RNA ...
Asahida, Takashi, Gharrett, Anthony J., Goto, Akira, Gray, Andrew K., Li, Zhuozhuo, Love, Milton S.   +5 more
core  

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

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