Results 161 to 170 of about 2,479 (192)

Low NUDT15 expression levels due to biallelic NUDT15 variants and 6‐mercaptopurine intolerance

British Journal of Haematology, 2022
Summary6‐Mercaptopurine (6‐MP) is widely used for the treatment of paediatric leukaemia and lymphoma. Recently, germline variants in the NUDT15 gene have been identified as one of the major genetic causes for 6‐MP–associated adverse effects such as myelosuppression.
Masanori Yoshida, Scott A. Brown, Takaya Moriyama, Rina Nishii, Shin‐ichi Tsujimoto, Yuji Yamada, Kaoru Yoshida, Ryota Shirai, Tomoo Osumi, Tomoyuki Utano, Reiji Fukano, Ko Kudo, Kimiyoshi Sakaguchi, Yuki Arakawa, Katsuyoshi Koh, Masahiro Sekiguchi, Masahiro Sekimizu, Takako Miyamura, Hisashi Ishida, Takeshi Inukai, Daisuke Tomizawa, Nobutaka Kiyokawa, Motohiro Kato, Jun J. Yang   +23 more
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NUDT15 variants affect mercaptopurine tolerance in children [PDF]

Nature Reviews Clinical Oncology, 2015
exaly   +2 more sources

A common missense variant in NUDT15 confers susceptibility to thiopurine-induced leukopenia [PDF]

Nature Genetics, 2014
Thiopurine therapy, commonly used in autoimmune conditions, can be complicated by life-threatening leukopenia. This leukopenia is associated with genetic variation in TPMT (encoding thiopurine S-methyltransferase). Despite a lower frequency of TPMT mutations in Asians, the incidence of thiopurine-induced leukopenia is higher in Asians than in ...
Suk-Kyun Yang, Hyunchul Choi, Talin Haritunians   +2 more
exaly   +3 more sources

NUDT15: A bench to bedside success story

Clinical Biochemistry, 2021
Recently, the enzyme nudix hydrolase 15 (NUDT15) has been identified as an additional component of the thiopurine metabolism pathway. NUDT15 (also known as MTH2) catalyzes the dephosphorylation of 6-thioguanosine triphosphate (6-TGTP) and 6-thio-deoxyguanosine triphosphate (6-TdGTP), which is the active metabolite of thiopurine medications.
openaire   +2 more sources

NUDT15 genotype distributions in the Korean population

Pharmacogenetics and Genomics, 2017
Thiopurines have a narrow therapeutic range because of frequent toxicity (i.e. marrow suppression), which is only partly explained by TPMT genetic polymorphisms, especially within Asian populations. Recent studies have identified NUDT15 variation as another important factor affecting thiopurine metabolism.
Hyoung-Tae, Kim, Rihwa, Choi, Hong-Hee, Won, Yon Ho, Choe, Ben, Kang, Kiwuk, Lee, Hong Hoe, Koo, Keon Hee, Yoo, Young-Ho, Kim, Soo-Youn, Lee   +9 more
openaire   +2 more sources

Cost-effectiveness analysis of pretreatment screening for NUDT15 defective alleles

Pharmacogenetics and Genomics, 2020
Background Nucleotide triphosphate diphosphatase (NUDT15) genetic testing in addition to thiopurine methyl transferase (TPMT) is recommended to reduce the incidence of adverse severe myelotoxicity episodes induced by thiopurines. Objective We assessed the cost-effectiveness ratio of
Kevin, Zarca, Albain, Chansavang, Marie-Anne, Loriot, Isabelle, Durand-Zaleski, Nicolas, Pallet   +4 more
openaire   +2 more sources

Childhood acute lymphoblastic leukemia mercaptopurine intolerance is associated with NUDT15 variants

Pediatric Research, 2020
Mercaptopurine-induced neutropenia can interrupt chemotherapy and expose patients to infection during childhood acute lymphoblastic leukemia (ALL) treatment. Previously, six candidate gene variants associated with mercaptopurine intolerance were reported.
Der-Shiun, Wang, Chih-Hsiang, Yu, Chien-Yu, Lin, Ya-Hsuan, Chang, Kai-Hsin, Lin, Dong-Tsamn, Lin, Shiann-Tarng, Jou, Meng-Yao, Lu, Hsiu-Hao, Chang, Shu-Wha, Lin, Hsuan-Yu, Chen, Yung-Li, Yang   +11 more
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NUDT15 polymorphism in healthy children with Bai nationality in Yunnan of China

Pediatrics International, 2021
AbstractBackgroundThiopurine methyltransferase (TPMT) polymorphism is one of the causes of the toxicity of thiopurines, but this is rarely seen in Asian populations. Rather, the nucleoside diphosphate‐linked X‐component motif 15 (NUDT15) gene is frequently linked to mercaptopurine (MP) intolerance and myelotoxicity in children with acute lymphoblastic ...
Gangling Pu, Yali Wang, Shaoqin Duan, Jingpei Chen, Chunhui Yang, Tingting Cui, Chunlian Fang, Yan Zhou, Han Zhang, Xin Tian   +9 more
openaire   +2 more sources

Preemptive NUDT15 genotyping: redefining the management of patients with thiopurine-induced toxicity

Drug Metabolism and Personalized Therapy, 2018
AbstractBackground:Thiopurine methyltransferase (TPMT) gene variants have achieved limited success in predicting the outcome of thiopurine therapy, which shows wide inter-individual variations. The literature indicates a strong association between theNUDT15gene variant and thiopurine-induced toxicity in Asian patients.
Swarup A.V. Shah, Minal U. Paradkar, Devendra C. Desai, Tester F. Ashavaid   +3 more
openaire   +2 more sources

472 - NUDT15 Variants Contribute to Thiopurine-Induced Myelosuppression in European Populations

Gastroenterology, 2018
Introduction Thiopurines are commonly used in the maintenance treatment of inflammatory bowel disease (IBD) but this is limited by myelosuppression in 7% of patients.1 Thiopurine S-methyltransferase (TPMT) variants only explain 20% of thiopurine-induced myelosuppression (TIM) in Europeans suggesting the presence of other genetic determinants.2 We ...
Gareth J. Walker, James W. Harrison, Michiel D. Voskuil, Graham A. Heap, Neel Heerasing, Peter J. Hendy, Jukka Koskela, Mark J. Daly, Harry Sokol, Rinse K. Weersma, Dermot McGovern, Claire M. Bewshea, Mike Weedon, James Goodhand, Nicholas A. Kennedy, Tariq Ahmad   +15 more
openaire   +1 more source