Results 81 to 90 of about 69,154 (279)

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

open access: yesClinical 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   +18 more
wiley   +1 more source

Pharmacogenetics of antipsychotic adverse effects: Case studies and a literature review for clinicians

open access: yesNeuropsychiatric Disease and Treatment, 2007
Adriana Foster1, Zixuan Wang2, Manzoor Usman1, Edna Stirewalt1, Peter Buckley11Department of Psychiatry and Health Behavior and 2Department of Medicine and Pathology, Medical College of Georgia, Augusta, GA, USAAbstract: There is a growing body of ...
Adriana Foster   +4 more
doaj  

Pharmacogenetic testing: current state of the issue

open access: yesAktualʹnì Pitannâ Farmacevtičnoï ì Medičnoï Nauki ta Praktiki
Aim. The purpose of this work is to emphasize the importance and practical benefits of pharmacogenetics in medicine, demonstrating how the integration of pharmacogenetics into clinical practice can improve treatment outcomes and enhance the safety of ...
O. V. Kraidashenko   +2 more
doaj   +1 more source

Pharmacogenetics of antidepressant response: An update

open access: yesHuman Genomics, 2009
The past few decades have witnessed much progress in the field of pharmacogenetics. The identification of the genetic background that regulates the antidepressant response has benefited from these advances.
Drago Antonio   +2 more
doaj   +1 more source

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes   +6 more
wiley   +1 more source

The association between white blood cell count and relative risk of non-small cell lung cancer

open access: yesDiscover Oncology
Background High abundance of eosinophils has been proved to associated with favorable disease progression in non-small cell lung cancer (NSCLC) in the previous observational studies, but the causal relationship remains unclear. It is also unclear whether
Xiao Yang   +4 more
doaj   +1 more source

Presence of the ABCB1 (MDR1) deletion mutation causing ivermectin hypersensitivity in certain dog breeds in Belgium [PDF]

open access: yes, 2009
Hypersensitivity to ivermectin and certain other drugs in Collies and related breeds is caused by a 4-base pair deletion mutation in the ABCB1 gene, better known as the MDR1 gene, encoding P-glycoprotein.
Daminet, Sylvie   +9 more
core   +2 more sources

Rapid diagnostic tests for molecular surveillance of Plasmodium falciparum malaria -assessment of DNA extraction methods and field applicability [PDF]

open access: yes, 2013
Background: The need for new malaria surveillance tools and strategies is critical, given improved global malaria control and regional elimination efforts.
Abdullah S Ali   +26 more
core   +2 more sources

Next‐generation sequencing in newborn screening: Current status, challenges, and future perspectives

open access: yesPediatric Investigation, EarlyView.
Newborn screening shifts from biochemical to genetic methods. Global exploration is promising but requires overcoming challenges and international collaboration to optimize implementation. ABSTRACT Newborn screening (NBS) is a key public health intervention that improves children's health outcomes by enabling precise intervention through the early ...
Zhelan Huang, Wenhao Zhou
wiley   +1 more source

A loss-of-function human ADAR variant activates innate immune response and promotes bowel inflammation

open access: yesNature Communications
Inflammatory bowel disease (IBD) arises from genetic-environmental interactions. Adenosine deaminases acting on RNA 1 (ADAR), an RNA-editing enzyme converting adenosine (A) to inosine (I), is essential for tissue homeostasis.
Pengfei Xu   +11 more
doaj   +1 more source

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