Cargando…

One amino acid makes a difference–Characterization of a new TPMT allele and the influence of SAM on TPMT stability

Thiopurine induced toxicity is associated with defects in the thiopurine methyltransferase (TPMT) gene. TPMT is a polymorphic enzyme, with most of the single nucleotide polymorphisms (SNPs) causing an amino acid change, altering the enzymatic activity of the TPMT protein. In this study, we character...

Descripción completa

Detalles Bibliográficos
Autores principales:	Iu, Yan Ping Heidi, Helander, Sara, Kahlin, Anna Zimdahl, Cheng, Chun Wah, Shek, Chi Chung, Leung, Moon Ho, Wallner, Björn, Mårtensson, Lars-Göran, Appell, Malin Lindqvist
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5411961/ https://www.ncbi.nlm.nih.gov/pubmed/28462921 http://dx.doi.org/10.1038/srep46428

Ejemplares similares

In Vitro Protein Stability of Two Naturally Occurring Thiopurine S-Methyltransferase Variants: Biophysical Characterization of TPMT*6 and TPMT*8
por: Wennerstrand, Patricia, et al.
Publicado: (2017)

Pharmacogenetic studies of thiopurine methyltransferase genotype‐phenotype concordance and effect of methotrexate on thiopurine metabolism
por: Zimdahl Kahlin, Anna, et al.
Publicado: (2020)

Imputation of TPMT defective alleles for the identification of patients with high-risk phenotypes
por: Almoguera, Berta, et al.
Publicado: (2014)

Thiopurine methyltransferase (TPMT) genotyping to predict myelosuppression risk
por: Nguyen, Christine M., et al.
Publicado: (2011)

The Identification of a Novel Thiopurine S-Methyltransferase Allele, TPMT*45, in Korean Patient with Crohn’s Disease
por: Ha, Changhee, et al.
Publicado: (2020)

Implications of Tioguanine Dosing in IBD Patients with a TPMT Deficiency
por: Deben, Debbie S., et al.
Publicado: (2023)

Association Between Genetically Predicted Expression of TPMT and Azathioprine Adverse Events
por: Davis, Alyssa, et al.
Publicado: (2023)

The rs1142345 in TPMT Affects the Therapeutic Effect of Traditional Hypoglycemic Herbs in Prediabetes
por: Li, Xi, et al.
Publicado: (2013)

Comparison of TPMT and NUDT15 polymorphisms in Chinese patients with inflammatory bowel disease
por: Wang, Hong-Hui, et al.
Publicado: (2018)

Novel Tetra-Primer ARMS-PCR Assays for Thiopurine Intolerance Susceptibility Mutations NUDT15 c.415C>T and TPMT c.719A>G (TPMT*3C) in East Asians
por: Ho, Chi-Chun, et al.
Publicado: (2017)

Pharmacogenetic variants in TPMT alter cellular responses to cisplatin in inner ear cell lines
por: Bhavsar, Amit P., et al.
Publicado: (2017)

Thiopurine Drugs in the Treatment of Ulcerative Colitis: Identification of a Novel Deleterious Mutation in TPMT
por: Harmand, Pierre-Olivier, et al.
Publicado: (2020)

Enhanced Specificity of TPMT*2 Genotyping Using Unidirectional Wild-Type and Mutant Allele-Specific Scorpion Primers in a Single Tube
por: Chen, Dong, et al.
Publicado: (2014)

Measurements of 6-thioguanine nucleotide levels with TPMT and NUDT15 genotyping in patients with Crohn’s disease
por: Lee, Ji Hyeon, et al.
Publicado: (2017)

Ancestry and TPMT-VNTR Polymorphism: Relationship with Hematological Toxicity in Uruguayan Patients with Acute Lymphoblastic Leukemia
por: Burgueño-Rodríguez, Gabriela, et al.
Publicado: (2020)

Susceptibility to thiopurine toxicity by TPMT and NUDT15 variants in Colombian children with acute lymphoblastic leukemia
por: Correa-Jimenez, Oscar, et al.
Publicado: (2021)

Replication of TPMT and ABCC3 Genetic Variants Highly Associated With Cisplatin-Induced Hearing Loss in Children
por: Pussegoda, K, et al.
Publicado: (2013)

Prevalence of TPMT and ITPA gene polymorphisms and effect on mercaptopurine dosage in Chilean children with acute lymphoblastic leukemia
por: Farfan, Mauricio J, et al.
Publicado: (2014)

A Simple Method for TPMT and ITPA Genotyping Using Multiplex HRMA for Patients Treated with Thiopurine Drugs
por: Skrzypczak-Zielinska, Marzena, et al.
Publicado: (2016)

Implementation of Standardized Clinical Processes for TPMT Testing in a Diverse Multidisciplinary Population: Challenges and Lessons Learned
por: Weitzel, Kristin W., et al.
Publicado: (2018)

Population-scale predictions of DPD and TPMT phenotypes using a quantitative pharmacogene-specific ensemble classifier
por: Zhou, Yitian, et al.
Publicado: (2020)

TPMT mRNA Expression: A Novel Prognostic Biomarker for Patients with Colon Cancer by Bioinformatics Analysis
por: Jia, Wei, et al.
Publicado: (2022)

TPMT Genetic Variability and Its Association with Hematotoxicity in Indonesian Children with Acute Lymphoblastic Leukemia in Maintenance Therapy
por: Rosdiana, Dewi Selvina, et al.
Publicado: (2021)

TPMT and NUDT15 testing for thiopurine therapy: A major tertiary hospital experience and lessons learned
por: Goh, Liuh Ling, et al.
Publicado: (2022)

Comparison of variants in TPMT and NUDT15 between sequencing and genotyping methods in a multistate pediatric institution
por: Cook, Kelsey J., et al.
Publicado: (2023)

Comparison of Direct Sequencing, Real-Time PCR-High Resolution Melt (PCR-HRM) and PCR-Restriction Fragment Length Polymorphism (PCR-RFLP) Analysis for Genotyping of Common Thiopurine Intolerant Variant Alleles NUDT15 c.415C>T and TPMT c.719A>G (TPMT*3C)
por: Fong, Wai-Ying, et al.
Publicado: (2017)

TPMT and DPD Polymorphisms: Efficient Screening Method for Indian Patients Considering Taking Thiopurine and 5-FU Drugs
por: Ashavaid, T. F., et al.
Publicado: (2009)

Phenome-Wide Association Studies on a Quantitative Trait: Application to TPMT Enzyme Activity and Thiopurine Therapy in Pharmacogenomics
por: Neuraz, Antoine, et al.
Publicado: (2013)

Risk factors for thiopurine‐induced myelosuppression and infections in inflammatory bowel disease patients with a normal TPMT genotype
por: Broekman, M. M. T. J., et al.
Publicado: (2017)

Thiopurines in the Management of Crohn's Disease: Safety and Efficacy Profile in Patients with Normal TPMT Activity—A Retrospective Study
por: Benmassaoud, Amine, et al.
Publicado: (2016)

TPMT*3C as a Predictor of 6-Mercaptopurine-Induced Myelotoxicity in Thai Children with Acute Lymphoblastic Leukemia
por: Jantararoungtong, Thawinee, et al.
Publicado: (2021)

A bioinformatics approach to the identification of novel deleterious mutations of human TPMT through validated screening and molecular dynamics
por: Saxena, Sidharth, et al.
Publicado: (2022)

Population-Specific Distribution of TPMT Deficiency Variants and Ancestry Proportions in Ecuadorian Ethnic Groups: Towards Personalized Medicine
por: Gallardo-Cóndor, Jennifer, et al.
Publicado: (2023)

Variants in TPMT, ITPA, ABCC4 and ABCB1 Genes As Predictors of 6-mercaptopurine Induced Toxicity in Children with Acute Lymphoblastic Leukemia
por: Milosevic, Goran, et al.
Publicado: (2018)

Successful Azathioprine Treatment with Metabolite Monitoring in a Pediatric Inflammatory Bowel Disease Patient Homozygous for TPMT(*)3C
por: Lee, Mi-Na, et al.
Publicado: (2013)

Homozygote CRIM1 variant is associated with thiopurine-induced neutropenia in leukemic patients with both wildtype NUDT15 and TPMT
por: Park, Yoomi, et al.
Publicado: (2020)

Association of genetic variants in TPMT, ITPA, and NUDT15 with azathioprine-induced myelosuppression in southwest china patients with autoimmune hepatitis
por: Miao, Qiang, et al.
Publicado: (2021)

The Effect of NUDT15, TPMT, APEX1, and ITPA Genetic Variations on Mercaptopurine Treatment of Pediatric Acute Lymphoblastic Leukemia
por: Lee, Jae Min, et al.
Publicado: (2021)

TPMT and NUDT15 polymorphisms in thiopurine induced leucopenia in inflammatory bowel disease: a prospective study from India
por: Grover, Narinder, et al.
Publicado: (2021)

LC–MS/MS Method for Measurement of Thiopurine Nucleotides (TN) in Erythrocytes and Association of TN Concentrations With TPMT Enzyme Activity
por: Bajaj, Amol O., et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_8l5hjv7tk30r18qdc3mo4s3jn1