Results 21 to 30 of about 2,433 (185)

A direct sequencing assay for pharmacogenetic testing of thiopurine-intolerant NUDT15 alleles in an Asian population

BMC Research Notes, 2022
Objective The nucleoside diphosphate linked moiety X (Nudix)-Type motif 15 (NUDT15) enzyme is involved in thiopurine metabolism. Genetic variants in the NUDT15 gene result in decreased NUDT15 activity, which in addition to decreased thiopurine S ...
Kok-Siong Poon, Izz Irfan B. Imran, Silvester Kheng-Han Chew, Patrice Tan, Karen Mei-Ling Tan   +4 more
doaj   +1 more source

Pharmacogenomic Calling From Whole-Exome Sequencing in the Taiwanese Population-A Real-World Experience. [PDF]

Mol Genet Genomic Med
This study evaluated pharmacogenomic (PGx) calling from whole‐exome sequencing (WES) in 3562 Taiwanese individuals. Fourteen pharmacogenes were reliably identified, with each person carrying an average of ~2.4 actionable phenotypes. The high actionable frequencies of G6PD deficiency and HLA‐B*58:01 highlight ethnic differences and support WES as a ...
Lin HH, Tsai MM, Chen HA, Hsu RH, Lin YS, Lin YL, Hsu C, Chien YH, Hwu WL, Lee NC.   +9 more
europepmc   +2 more sources

NUDT15-mediated hydrolysis limits the efficacy of anti-HCMV drug ganciclovir [PDF]

Cell Chemical Biology, 2021
Ganciclovir (GCV) is the first-line therapy against human cytomegalovirus (HCMV), a widespread infection that is particularly dangerous for immunodeficient individuals. Closely resembling deoxyguanosine triphosphate, the tri-phosphorylated metabolite of GCV (GCV-TP) is preferentially incorporated by the viral DNA polymerase, thereby terminating chain ...
Zhang, Si Min, Rehling, Daniel, Jemth, Ann-Sofie, Throup, Adam, Landázuri, Natalia, Almlöf, Ingrid, Göttmann, Mona, Valerie, Nicholas C.K., Borhade, Sanjay R., Wakchaure, Prasad, Page, Brent D.G., Desroses, Matthieu, Homan, Evert J., Scobie, Martin, Rudd, Sean G., Berglund, Ulrika Warpman, Söderberg-Nauclér, Cecilia, Stenmark, Pål, Helleday, Thomas   +18 more
openaire   +2 more sources

Association of NUDT15 gene polymorphism with adverse reaction, treatment efficacy, and dose of 6-mercaptopurine in patients with acute lymphoblastic leukemia: a systematic review and meta-analysis

Haematologica, 2023
6-mercaptopurine (6-MP) serves as the backbone in the maintenance regimens of acute lymphoblastic leukemia (ALL). We aimed to evaluate the influence of NUDT15 gene polymorphism on the risk of myelosupression, hepatotoxicity and interruption of 6-MP, as ...
Shan Du, Xuefei Huang, Xia He, Mian Mao, Min Chen, Rong Zhang, Huikai Shao, Ziyan Lv, Xinxia Liu, Junlan Chuan   +9 more
doaj   +1 more source

Prevention of thiopurine-induced early leukopenia in a Korean pediatric patient with Crohn’s disease who turned out to possess homozygous mutations in R139C [PDF]

Yeungnam University Journal of Medicine, 2020
Homozygous mutations in NUDT15 R139C are known as the major factor associated with thiopurine-induced early leukopenia, particularly in Asian patients. Therefore, NUDT15 genotyping is currently recommended before thiopurine treatment to identify patients
Jaewoan Bae, Byung-Ho Choe, Ben Kang
doaj   +1 more source

Loss of Nudt15 thiopurine detoxification increases direct DNA damage in hematopoietic stem cells

Scientific Reports, 2023
Thiopurines, such as 6-mercaptopurine (6-MP), are widely used as cytotoxic agents and immunosuppressants for leukemia and autoimmune or inflammatory diseases.
Noriaki Yamashita, Masahiro Kawahara, Takayuki Imai, Goichi Tatsumi, Ai Asai-Nishishita, Akira Andoh   +5 more
doaj   +1 more source

Nudix Hydroxylase 15 Mutations Strongly Predict Thiopurine-Induced Leukopenia Across Different Asian Ethnicities: Implications for Screening in a Diverse Population

Frontiers in Medicine, 2022
Background and AimsThiopurines, which are immunosuppressive drugs for maintaining remission for inflammatory bowel disease, are known to cause myelotoxicity in patients with Nudix Hydroxylase 15 (NUDT15) genetic variants in some Asian countries with ...
Xin-Hui Khoo, Shin Yee Wong, Nik Razima Wan Ibrahim, Ruey Terng Ng, Kee Seang Chew, Way Seah Lee, Zhi Qin Wong, Raja Affend Raja Ali, Shahreedhan Shahrani, Alex Hwong-Ruey Leow, Ida Normiha Hilmi, Ida Normiha Hilmi   +11 more
doaj   +1 more source

Genetic effect of an InDel in the promoter region of the NUDT15 and its effect on myoblast proliferation in chickens

BMC Genomics, 2022
Background Molecular breeding accelerates the speed of animal breeding. Screening molecular markers that can affect economic traits through genome-wide association studies (GWAS) can provide a theoretical basis for molecular breeding. At present, a large
Chengjie Wei, Yufang Niu, Bingjie Chen, Panpan Qin, Yanxing Wang, Dan Hou, Tong Li, Ruiting Li, Chunxiu Wang, Huadong Yin, Ruili Han, Huifen Xu, Yadong Tian, Xiaojun Liu, Xiangtao Kang, Zhuanjian Li   +15 more
doaj   +1 more source

The heterozygous NUDT15 variant is not associated with the severity of 6-mercaptopurine-related side effects in early intensification therapy for childhood acute lymphoblastic leukemia

EJC Paediatric Oncology, 2023
Background: In the treatment of childhood acute lymphoblastic leukemia (ALL), 6-mercaptopurine (6-MP) is essential for early intensification and maintenance of therapy.
Jimei Zhao, Masahiro Ueki, Saori Sawai, Minako Sugiyama, Yukayo Terashita, Shinsuke Hirabayashi, Yuko Cho, Ryoji Kobayashi, Yoichi Tanaka, Atsushi Manabe   +9 more
doaj   +1 more source

Pharmacogenomics in clinical practice: Biomarker information in Brazilian drug labels. [PDF]

Br J Clin Pharmacol
This review examines the PGx annotations in package inserts (bulas in Brazilian Portuguese) approved by ANVISA, the Brazilian Health Regulatory Agency, for 19 gene–drug pairs with strong or moderate recommendations for initial dosing alteration in the CPIC (Clinical Pharmacogenetic Implementation Consortion) guidelines and PGx testing required or ...
Suarez-Kurtz G.
europepmc   +2 more sources