Results 51 to 60 of about 2,479 (192)

Supervised learning of protein variant effects across large-scale mutagenesis datasets. [PDF]

open access: yesProtein Sci
Abstract The increasing availability of data from multiplexed assays of variant effects (MAVEs) enables supervised model training against large quantities of experimental data to learn sequence‐function relationships. Variant effect scores from MAVEs can, however, be influenced by the experimental method and library composition, resulting in experiment‐
Schulze TK   +3 more
europepmc   +2 more sources

Second Korean Guideline for the Management of Ulcerative Colitis [PDF]

open access: yes, 2017
Ulcerative colitis (UC) is a chronic inflammatory bowel disease characterized by a relapsing and remitting course. The direct and indirect costs of the treatment of UC are high, and the quality of life of patients is reduced, especially during ...
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core   +1 more source

Azathioprine dose tailoring based on pharmacogenetic information: Insights of clinical implementation [PDF]

open access: yes, 2023
Supplementary data associated with this article can be found in the online version at doi:10.1016/j.biopha.2023.115706Azathioprine is commonly used as an immunosuppressive antimetabolite in the treatment of acute lymphoblastic leukemia, autoimmune ...
Cabeza Barrera, José   +7 more
core   +1 more source

Second Korean guidelines for the management of ulcerative colitis [PDF]

open access: yes, 2017
Ulcerative colitis (UC) is a chronic inflammatory bowel disease characterized by a relapsing and remitting course. The direct and indirect costs of the treatment of UC are high, and the quality of life of patients is reduced, especially during ...
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core   +1 more source

Predicted efficacy of a pharmacogenetic passport for inflammatory bowel disease [PDF]

open access: yes, 2020
BACKGROUND: High inter-individual variability in therapeutic response to drugs used in the management of Inflammatory Bowel Disease (IBD) leads to high morbidity and high costs.
Auton   +34 more
core   +1 more source

Implementation of CYP2D6 copy-number imputation panel and frequency of key pharmacogenetic variants in Finnish individuals with a psychotic disorder [PDF]

open access: yes, 2022
We demonstrate that CYP2D6 copy-number variation (CNV) can be imputed using existing imputation algorithms. Additionally, we report frequencies of key pharmacogenetic variants in individuals with a psychotic disorder from the genetically bottle-necked ...
Ahola-Olli, Ari V.   +26 more
core   +6 more sources

Genomic medicine in inflammatory bowel disease [PDF]

open access: yes, 2020
Inflammatory bowel disease (IBD) is a term for two conditions (Crohn’s disease [CD] and ulcerative colitis [UC]) that are characterised by chronic inflammation of the gastrointestinal tract.
Voskuil, Michiel
core   +2 more sources

The Effect of NUDT15, TPMT, APEX1, and ITPA Genetic Variations on Mercaptopurine Treatment of Pediatric Acute Lymphoblastic Leukemia

open access: yesChildren, 2021
Mercaptopurine (MP) is a commonly used maintenance regimen for childhood acute lymphoblastic leukemia (ALL). However, 6-MP has a narrow therapeutic index, which causes dose-limiting toxicities in hematopoietic tissues.
Jae Min Lee   +4 more
doaj   +1 more source

Mercaptopurine induced myelosuppression in a child with a NUDT15 rs116855232 homozygous variant

open access: yesJournal of Oncology Pharmacy Practice, 2022
Introduction Mercaptopurine (6-MP) is the backbone of the consolidation and maintenance therapy for paediatric acute lymphoblastic leukaemia (ALL). Nevertheless, it can cause critical myelosuppression. Predicting adverse reactions to 6-MP often involves the investigation of pharmacogenetic variants; in particular thiopurine S-methyltransferase ( TPMT ...
Navya Gupta   +5 more
openaire   +5 more sources

DNA-thioguanine nucleotide as a treatment marker in acute lymphoblastic leukemia patients with NUDT15 variant genotypes.

open access: yesPLoS ONE, 2021
BackgroundLarge inter-individual variations in drug metabolism pose a challenge in determining 6-mercaptopurine (6MP) doses. As the last product of 6MP metabolism, DNA-thioguanine nucleotide (DNA-TGN) could reflect the efficacy of 6MP, especially in ...
Hee Young Ju   +10 more
doaj   +1 more source

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