Results 81 to 90 of about 135,110 (255)

Identification of a Functional CYP2C8 Variant Allele that Alters Splicing, Reduces Protein Expression, and Increases Drug Exposure

Clinical Pharmacology &Therapeutics, EarlyView.
This study investigated genetic determinants of the pharmacokinetics of the CYP2C8 index drugs repaglinide and gemfibrozil, and their interaction in healthy participants. Sequencing data from a study with montelukast revealed a novel functional CYP2C8 allele (rs2071426, CYP2C8*19), predicted to create an intronic splice donor site.
Anssi J. H. Mykkänen, Päivi Hirvensalo, Kathrin Klein, Dorota Kaminska, Markus Grube, Tuija Tapaninen, Johanna I. Kiiski, Mikko Neuvonen, Ville T. Männistö, Jussi Pihlajamäki, Mladen Tzvetkov, Matthias Schwab, Aleksi Tornio, Janne T. Backman, Mikko Niemi   +14 more
wiley   +1 more source

The Effect of Dicloxacillin Administration on Pharmacokinetics of Narrow Therapeutic Window Drugs: Phenytoin and Warfarin

Clinical Pharmacology &Therapeutics, EarlyView.
Dicloxacillin is a penicillinase‐resistant beta‐lactam antibiotic and potent activator of the Pregnane X receptor (PXR), known to induce CYP2C9, CYP2C19, and CYP3A4 activity. Clinical data suggest it reduces anticoagulation in warfarin‐treated patients and increases the risk of thromboembolic events.
Chanan Shaul, Waseem Mujahed, Ibrahim Idries, Maor Wanounou, Meir Bialer, Yoseph Caraco   +5 more
wiley   +1 more source

Clinical Function Assignment of NAT2 Alleles by the Clinical Pharmacogenetics Implementation Consortium Pharmacogene Curation Expert Panel

Clinical Pharmacology &Therapeutics, EarlyView.
NAT2 encodes arylamine N‐acetyltransferase 2, a key enzyme in the phase II metabolism of arylamines and arylhydrazines. NAT2 is highly polymorphic, resulting in variable distributions of rapid and poor metabolizers across global populations. Here, we detail the process undertaken by the Clinical Pharmacogenetics Implementation Consortium (CPIC) NAT2 ...
Bailey M. Tibben, David W. Hein, Michelle Whirl‐Carrillo, Andrea Gaedigk, Michael T. Eadon, Rodney F. Minchin, Sotiria Boukouvala, Adalberto Rezende Santos, Roseann S. Donnelly, José A. G. Agúndez, Kelly E. Caudle   +10 more
wiley   +1 more source

Clinical utility and genetic landscape of exome sequencing in a large pediatric epilepsy cohort: Insights from a Turkish tertiary care center

Epileptic Disorders, EarlyView.
Abstract Objective To evaluate the diagnostic utility and genetic spectrum of next‐generation sequencing (NGS) in a large, well‐phenotyped cohort of Turkish pediatric patients with epilepsy of unknown etiology. Methods Between January 2021 and December 2024, 250 children (115 female, 135 male) with unexplained epilepsy underwent either whole‐exome ...
Derya Karaer, Beste Kipçak Yüzbaşı, İpek Şahin, Olcay Güngör, Kadri Karaer   +4 more
wiley   +1 more source

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

DPYD and UGT1A1 Genotype‐Based Dosing for Fluoropyrimidines and Irinotecan Chemotherapy: Variant‐Specific Impact on Treatment Intensity and Toxicity

International Journal of Cancer, EarlyView.
Pre‐treatment DPYD and UGT1A1 genotyping is increasingly used to prevent fluoropyrimidine‐ and irinotecan‐related toxicity, but variant‐specific real‐world effects remain unclear. In an unselected cohort of cancer patients with actionable genotypes, genotype‐driven dosing improved safety while preserving treatment exposure in high‐risk DPYD c.1905+1G>A
Martina Gambron, Elena Peruzzi, Samantha Perfler, Marcella Montico, Riccardo Cecchin, Elena De Mattia, Michele Spina, Camilla Lisanti, Serena Corsetti, Luisa Foltran, Fabio Puglisi, Rossana Roncato, Erika Cecchin   +12 more
wiley   +1 more source

Genetic dissection of stem and leaf rachis prickles in diploid rose using a pedigree-based QTL analysis

Frontiers in Plant Science
IntroductionPrickles are often deemed undesirable traits in many crops, including roses (Rosa sp.), and there is demand for rose cultivars with no or very few prickles.
Zena J. Rawandoozi, Andrew Barocco, Maad Y. Rawandoozi, Patricia E. Klein, David H. Byrne, Oscar Riera-Lizarazu   +5 more
doaj   +1 more source

The importance of gene polymorphism in familial inheritance of endometriosis

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective The study aimed to investigate familial transmission patterns in women with endometriosis by generating a customized single‐nucleotide polymorphism (SNP) array. Methods Patients aged 18–45 who were diagnosed histopathologically with endometriosis were included in the study.
Hale Goksever Celik, Candan Eker, Berivan Guzelbag, Ercan Bastu, Tuba Gunel   +4 more
wiley   +1 more source

Deciphering of Genomic Loci Associated with Alkaline Tolerance in Soybean [Glycine max (L.) Merr.] by Genome-Wide Association Study

Plants
Alkaline stress is one of the major abiotic constraints that limits plant growth and development. However, the genetic basis underlying alkaline tolerance in soybean [Glycine max (L.) Merr.] remains largely unexplored.
Xinjing Yang, Ye Zhang, Javaid Akhter Bhat, Mingjing Wang, Huanbin Zheng, Moran Bu, Beifang Zhao, Suxin Yang, Xianzhong Feng   +8 more
doaj   +1 more source

Strategies and mechanisms of precision genome engineering: From gene editing to genome writing

iMetaOmics, EarlyView.
In this review, we examined the progression of genome manipulation from stochastic nuclease‐mediated cutting toward precise editing and programmable genome writing. We discussed tools like multi‐kilobase RNA‐guided integrators and Artificial Intelligence (AI)‐designed effectors and showed how these advances enable researchers to treat genomes as ...
Kerui Huang, Jianhong Tian, Wenyan Zhao, Siqin Zhang, Lixuan Xiang, Meiqing Yang, Lu Liu, Yazhou Huang, Ningyun Zhang, Lei Sun, Peng Xie, Nanyu Kuang, Hong Zhou, Chengfeng Qiu, Jun Yan, Xiaocheng Jiang, Qiang Tu, Yun Wang, Haoliang Hu, Youming Zhang   +19 more
wiley   +1 more source