Cargando…

Genes implicated in thiopurine-induced toxicity: Comparing TPMT enzyme activity with clinical phenotype and exome data in a paediatric IBD cohort

The aim of our study was to assess the utility of next generation sequencing (NGS) for predicting toxicity and clinical response to thiopurine drugs in paediatric patients with inflammatory bowel disease. Exome data for 100 patients were assessed against biochemically measured TPMT enzyme activity,...

Descripción completa

Detalles Bibliográficos
Autores principales:	Coelho, Tracy, Andreoletti, Gaia, Ashton, James J., Batra, Akshay, Afzal, Nadeem Ahmad, Gao, Yifang, Williams, Anthony P., Beattie, Robert M., Ennis, Sarah
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5050412/ https://www.ncbi.nlm.nih.gov/pubmed/27703193 http://dx.doi.org/10.1038/srep34658

Ejemplares similares

Exome Analysis of Patients with Concurrent Pediatric Inflammatory Bowel Disease and Autoimmune Disease
por: Andreoletti, Gaia, et al.
Publicado: (2015)

Exome Analysis of Rare and Common Variants within the NOD Signaling Pathway
por: Andreoletti, Gaia, et al.
Publicado: (2017)

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

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)

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

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)

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)

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

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

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)

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)

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

The Pediatric Crohn Disease Morbidity Index (PCD-MI): Development of a Tool to Assess Long-Term Disease Burden Using a Data-Driven Approach
por: Ashton, James J., et al.
Publicado: (2023)

A practical guide to thiopurine prescribing and monitoring in IBD
por: Warner, Ben, et al.
Publicado: (2018)

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)

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)

Expression profile of the matricellular protein periostin in paediatric inflammatory bowel disease
por: Coelho, Tracy, et al.
Publicado: (2021)

De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease
por: Takahashi, Shinichi, et al.
Publicado: (2017)

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)

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

Interplay between IL6 and CRIM1 in thiopurine intolerance due to hematological toxicity in leukemic patients with wild-type NUDT15 and TPMT
por: Kim, Hyery, et al.
Publicado: (2021)

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)

Ileal Transcriptomic Analysis in Paediatric Crohn’s Disease Reveals IL17- and NOD-signalling Expression Signatures in Treatment-naïve Patients and Identifies Epithelial Cells Driving Differentially Expressed Genes
por: Ashton, James J, et al.
Publicado: (2020)

Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes
por: Ashton, James J., et al.
Publicado: (2020)

16S sequencing and functional analysis of the fecal microbiome during treatment of newly diagnosed pediatric inflammatory bowel disease
por: Ashton, James J., et al.
Publicado: (2017)

Thiopurine Exposure During Pregnancy is Not Associated With Anemia in Infants Born to Mothers With IBD
por: Yeaman, Fiona, et al.
Publicado: (2023)

Prediction of Crohn’s Disease Stricturing Phenotype Using a NOD2-derived Genomic Biomarker
por: Ashton, James J, et al.
Publicado: (2022)

Allopurinol in combination with thiopurine induces mucosal healing and improves clinical and metabolic outcomes in IBD
por: Moreau, Brigitte, et al.
Publicado: (2017)

Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes
por: Christodoulou, Katja, et al.
Publicado: (2013)

Deleterious Genetic Variation Across the NOD Signaling Pathway Is Associated With Reduced NFKB Signaling Transcription and Upregulation of Alternative Inflammatory Transcripts in Pediatric Inflammatory Bowel Disease
por: Ashton, James J, et al.
Publicado: (2022)

Classification of Paediatric Inflammatory Bowel Disease using Machine Learning
por: Mossotto, E., et al.
Publicado: (2017)

A SNP profiling panel for sample tracking in whole-exome sequencing studies
por: Pengelly, Reuben J, et al.
Publicado: (2013)

Erratum to: a SNP profiling panel for sample tracking in whole-exome sequencing studies
por: Pengelly, Reuben J, et al.
Publicado: (2015)

One amino acid makes a difference–Characterization of a new TPMT allele and the influence of SAM on TPMT stability
por: Iu, Yan Ping Heidi, et al.
Publicado: (2017)

Biosimilar infliximab use in paediatric IBD
por: Richmond, Lisa, et al.
Publicado: (2018)

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)

Plasma lipidomic profiling of thiopurine-induced leukopenia after NUDT15 genotype-guided dosing in Chinese IBD patients
por: Li, Pan, et al.
Publicado: (2023)

Pharmacogenetics of thiopurine therapy: from thiopurine S-methyltransferase to S-adenosylmethionine
por: Mlinarič-Raščan, Irena, et al.
Publicado: (2009)

Pharmacogenetics of thiopurines
por: Franca, Raffaella, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_ht22nqa820js4mo6625muka0v4