Results 61 to 70 of about 5,467 (204)

Development and analytical validation of a targeted short‐read next generation sequencing‐based pharmacogenetic panel for comprehensive variant detection

British Journal of Pharmacology, Volume 183, Issue 16, Page 4735-4760, August 2026.
Abstract Background and Purpose Genomic profiling of patients for genetic variants that modify the effect of specific medications has many benefits, including the possibility of avoiding toxicities and ensuring an adequate effect of the medication. Our intention was to develop a comprehensive, high‐quality pharmacogenetic test panel for clinical use ...
Anna Gréen, Nils Johan Fredriksson, Michael Andresen, Jon Jonasson, Malin Lindqvist Appell, Henrik Gréen   +5 more
wiley   +1 more source

Pyrosequencing of TPMT Alleles in a General Swedish Population and in Patients with Inflammatory Bowel Disease

, 2004
Background: Interindividual differences in therapeutic efficacy in patients treated with thiopurines might be explained by the presence of thiopurine S-methyltransferase (TPMT) alleles that encode for reduced TPMT enzymatic activity.
Peterson, Curt,, Taipalensuu, J.,, Lindqvist Appell, Malin,, Haglund, Sofie,, Almer, Sven,   +4 more
core   +1 more source

Comparison of variants in TPMT and NUDT15 between sequencing and genotyping methods in a multistate pediatric institution

Clinical and Translational Science, 2023
The risk of severe adverse events related to thiopurine therapy can be reduced by personalizing dosing based on TPMT and NUDT15 genetic polymorphisms. However, the optimal genetic testing platform has not yet been established. In this study, we report on
Kelsey J. Cook, Victoria Grusauskas, Lucy Gloe, Benjamin Q. Duong, Renee C. Gresh, E. Anders Kolb, Manisha Bansal, Allison S. Bechtel, Ramamoorthy Nagasubramanian, Susan M. Kirwin, Kathryn V. Blake, Nathan D. Seligson   +11 more
doaj   +1 more source

A Serverless Pharmacogenomic Risk Dashboard: Translating Ensemble Models and Model‐Based Scenario Rules to Clinical Decision Support

Clinical and Translational Science, Volume 19, Issue 8, August 2026.
ABSTRACT The “last mile” problem in healthcare AI—translating high‐performance models into accessible, privacy‐preserving point‐of‐care tools—remains unsolved for pharmacogenomic (PGx) risk assessment. No existing platform integrates opioid and polypharmacy risk scoring, model‐based scenario analysis, and CPIC‐based PGx patient cards within a single ...
R. Jerome Dixon, Elvin T. Price
wiley   +1 more source

Personalization of thiopurine therapy: Current recommendations and future perspectives

Acta Pharmaceutica
Despite great therapeutic advances in the field of biologics, small synthetic molecules such as thiopurines, including azathioprine, mercaptopurine, and thioguanine, remain an important therapeutic pillar in the treatment of inflammatory bowel disease ...
Urbančič Dunja, Pasha Flaka, Šmid Alenka, Mlinarič-Raščan Irena   +3 more
doaj   +1 more source

TPMT and NUDT15 polymorphisms in thiopurine induced leucopenia in inflammatory bowel disease: a prospective study from India

BMC Gastroenterology, 2021
Background Polymorphisms in thiopurine methyltransferase (TPMT) and Nudix hydrolase-15 (NUDT15) have been implicated as the predominant cause of thiopurine induced leukopenia in the Western countries and East Asia respectively.
Narinder Grover, Prateek Bhatia, Antriksh Kumar, Minu Singh, Deepesh Lad, Harshal S. Mandavdhare, Jayanta Samanta, Kaushal K. Prasad, Usha Dutta, Vishal Sharma   +9 more
doaj   +1 more source

The decline of 6‐thioguanine nucleotides is not linked to impaired efficacy or safety of thiopurines in pregnant women with inflammatory bowel disease

British Journal of Clinical Pharmacology, Volume 92, Issue 7, Page 2364-2376, July 2026.
Background Thiopurines are used to maintain remission in inflammatory bowel disease (IBD). These drugs are metabolized into 6‐thioguanine nucleotides (6‐TGN), associated with efficacy, and 6‐methylmercaptopurine ribonucleotides (6‐MMPR), associated with adverse drug reactions. Pregnancy has been linked to a shift in thiopurine metabolism, characterized
Dianne G. Bouwknegt, Paola Mian, Femke Groen, Denise van den Berg‐Zuiddam, Andrea E. van der Meulen, Femke Crouwel, Nanne K. de Boer, Debbie S. Deben, Dennis R. Wong, Luc J. J. Derijks, Gerard Dijkstra, Arno R. Bourgonje, C. Janneke van der Woude, Marijn C. Visschedijk   +13 more
wiley   +1 more source

Adverse events in relation to TPMT activity.

, 2018
Adverse events in relation to TPMT activity.
Jan Stephan F. Sanders (5076785), Abraham Rutgers (3562520), Coen A. Stegeman (344870), Arno C. Hessels (5076782)   +3 more
core   +1 more source

Seronegative Morvan Syndrome Presenting With Agrypnia Excitata and Peripheral Nerve Hyperexcitability: A Phenotype‐Supported Diagnostic and Therapeutic Approach in a Resource‐Limited Setting

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT We report a 63‐year‐old Palestinian man with seronegative Morvan syndrome presenting with the complete clinical triad: continuous neuromyotonia with visible myokymia, severe insomnia consistent with agrypnia excitata phenotype (2–3 h/night; Insomnia Severity Index [ISI] 24/28, validated Arabic version), tachycardia (118 bpm), profuse ...
Hatem Mousa Taha, Khaled Hatem Taha
wiley   +1 more source

Variants in TPMT, ITPA, ABCC4 and ABCB1 genes as predictors of 6-mercaptopurine induced toxicity in children with acute lymphoblastic leukemia [PDF]

Journal of Medical Biochemistry, 2018
Background: Acute lymphoblastic leukemia is the most common childhood malignancy. Optimal use of anti leukemic drugs has led to less toxicity and adverse reactions, and a higher survival rate. Thiopurine drugs, including 6-mercaptopurine, are mostly used
Milošević Goran, Kotur Nikola, Krstovski Nada, Lazić Jelena, Zukić Branka, Stanković Biljana, Janić Dragana, Katsila Theodora, Patrinos George P., Pavlović Sonja, Dokmanović Lidija   +10 more
doaj