PACSIN2 polymorphism influences TPMT activity and mercaptopurine-related gastrointestinal toxicity.

PubWeight™: 1.66‹?› | Rank: Top 3%

🔗 View Article (PMC 3471396)

Published in Hum Mol Genet on July 30, 2012

Authors

Gabriele Stocco1, Wenjian Yang, Kristine R Crews, William E Thierfelder, Giuliana Decorti, Margherita Londero, Raffaella Franca, Marco Rabusin, Maria Grazia Valsecchi, Deqing Pei, Cheng Cheng, Steven W Paugh, Laura B Ramsey, Barthelemy Diouf, Joseph Robert McCorkle, Terreia S Jones, Ching-Hon Pui, Mary V Relling, William E Evans

Author Affiliations

1: Department of Pharmaceutical Sciences, St Jude Children's Research Hospital, Memphis, TN 38105, USA.

Associated clinical trials:

Therapy for Newly Diagnosed Patients With Acute Lymphoblastic Leukemia | NCT00137111

Articles citing this

5-Aminoimidazole-4-carboxamide ribonucleotide-transformylase and inosine-triphosphate-pyrophosphatase genes variants predict remission rate during methotrexate therapy in patients with juvenile idiopathic arthritis. Rheumatol Int (2014) 1.41

NUDT15 R139C causes thiopurine-induced early severe hair loss and leukopenia in Japanese patients with IBD. Pharmacogenomics J (2015) 0.90

Thiopurine pharmacogenomics: association of SNPs with clinical response and functional validation of candidate genes. Pharmacogenomics (2014) 0.83

Genomewide Approach Validates Thiopurine Methyltransferase Activity Is a Monogenic Pharmacogenomic Trait. Clin Pharmacol Ther (2016) 0.82

Association of ITPA genotype with event-free survival and relapse rates in children with acute lymphoblastic leukemia undergoing maintenance therapy. PLoS One (2014) 0.82

Multilocus genotypes of relevance for drug metabolizing enzymes and therapy with thiopurines in patients with acute lymphoblastic leukemia. Front Genet (2013) 0.82

Tip-to-tip interaction in the crystal packing of PACSIN 2 is important in regulating tubulation activity. Protein Cell (2013) 0.80

PACSIN2 does not influence thiopurine-related toxicity in patients with inflammatory bowel disease. Am J Gastroenterol (2014) 0.80

TPMT genetic variants are associated with increased rejection with azathioprine use in heart transplantation. Pharmacogenet Genomics (2013) 0.79

Polymorphic variation in TPMT is the principal determinant of TPMT phenotype: a meta-analysis of three genome-wide association studies. Clin Pharmacol Ther (2016) 0.78

PACSIN2 polymorphism is associated with thiopurine-induced hematological toxicity in children with acute lymphoblastic leukaemia undergoing maintenance therapy. Sci Rep (2016) 0.77

Exome sequencing and array-based comparative genomic hybridisation analysis of preferential 6-methylmercaptopurine producers. Pharmacogenomics J (2015) 0.75

Pharmacogenomics in Pediatric Oncology: Review of Gene-Drug Associations for Clinical Use. Int J Mol Sci (2016) 0.75

Pharmacogenetics and induction/consolidation therapy toxicities in acute lymphoblastic leukemia patients treated with AIEOP-BFM ALL 2000 protocol. Pharmacogenomics J (2015) 0.75

Genes implicated in thiopurine-induced toxicity: Comparing TPMT enzyme activity with clinical phenotype and exome data in a paediatric IBD cohort. Sci Rep (2016) 0.75

The Promise of Pharmacogenomics in Reducing Toxicity During Acute Lymphoblastic Leukemia Maintenance Treatment. Genomics Proteomics Bioinformatics (2017) 0.75

Differential effects of thiopurine methyltransferase (TPMT) and multidrug resistance-associated protein gene 4 (MRP4) on mercaptopurine toxicity. Cancer Chemother Pharmacol (2017) 0.75

Articles cited by this

The human genome browser at UCSC. Genome Res (2002) 168.23

Network organization of the human autophagy system. Nature (2010) 11.38

Treatment of acute lymphoblastic leukemia. N Engl J Med (2006) 11.30

Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS. PLoS Genet (2010) 10.75

Bif-1 interacts with Beclin 1 through UVRAG and regulates autophagy and tumorigenesis. Nat Cell Biol (2007) 8.29

Treating childhood acute lymphoblastic leukemia without cranial irradiation. N Engl J Med (2009) 7.95

ENCODE whole-genome data in the UCSC Genome Browser. Nucleic Acids Res (2009) 5.98

Clinical Pharmacogenetics Implementation Consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing. Clin Pharmacol Ther (2011) 5.44

ENCODE whole-genome data in the UCSC genome browser (2011 update). Nucleic Acids Res (2010) 4.50

Biology, risk stratification, and therapy of pediatric acute leukemias: an update. J Clin Oncol (2011) 4.34

Improved outcome for children with acute lymphoblastic leukemia: results of Total Therapy Study XIIIB at St Jude Children's Research Hospital. Blood (2004) 4.21

Local-pooled-error test for identifying differentially expressed genes with a small number of replicated microarrays. Bioinformatics (2003) 3.75

Mercaptopurine therapy intolerance and heterozygosity at the thiopurine S-methyltransferase gene locus. J Natl Cancer Inst (1999) 3.58

CD28-dependent Rac1 activation is the molecular target of azathioprine in primary human CD4+ T lymphocytes. J Clin Invest (2003) 2.97

Syndapin isoforms participate in receptor-mediated endocytosis and actin organization. J Cell Biol (2000) 2.61

Chemotherapeutic drug susceptibility associated SNPs are enriched in expression quantitative trait loci. Proc Natl Acad Sci U S A (2010) 2.43

Long-term results of St Jude Total Therapy Studies 11, 12, 13A, 13B, and 14 for childhood acute lymphoblastic leukemia. Leukemia (2009) 2.24

Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects. J Clin Oncol (2009) 2.20

Late MRD response determines relapse risk overall and in subsets of childhood T-cell ALL: results of the AIEOP-BFM-ALL 2000 study. Blood (2011) 2.18

Molecular mechanism of membrane constriction and tubulation mediated by the F-BAR protein Pacsin/Syndapin. Proc Natl Acad Sci U S A (2009) 1.91

Genetic polymorphism of inosine triphosphate pyrophosphatase is a determinant of mercaptopurine metabolism and toxicity during treatment for acute lymphoblastic leukemia. Clin Pharmacol Ther (2008) 1.82

Thiopurine methyltransferase (TPMT) genotype and early treatment response to mercaptopurine in childhood acute lymphoblastic leukemia. JAMA (2005) 1.74

All three PACSIN isoforms bind to endocytic proteins and inhibit endocytosis. J Cell Sci (2000) 1.65

Lymphoblastoid cell lines in pharmacogenomic discovery and clinical translation. Pharmacogenomics (2012) 1.63

Thiopurine S-methyltransferase pharmacogenetics: insights, challenges and future directions. Oncogene (2006) 1.62

Ancestry and pharmacogenetics of antileukemic drug toxicity. Blood (2007) 1.52

Thiopurine methyltransferase activity in American white subjects and black subjects. Clin Pharmacol Ther (1994) 1.51

The syndapin protein family: linking membrane trafficking with the cytoskeleton. J Cell Sci (2004) 1.50

Bif-1 regulates Atg9 trafficking by mediating the fission of Golgi membranes during autophagy. Autophagy (2011) 1.44

Drug methylation in cancer therapy: lessons from the TPMT polymorphism. Oncogene (2003) 1.40

The F-BAR domain protein PACSIN2 associates with Rac1 and regulates cell spreading and migration. J Cell Sci (2011) 1.23

A comprehensive siRNA screen for kinases that suppress macroautophagy in optimal growth conditions. Autophagy (2011) 1.16

Using HapMap tools in pharmacogenomic discovery: the thiopurine methyltransferase polymorphism. Clin Pharmacol Ther (2007) 1.11

Enhanced proteasomal degradation of mutant human thiopurine S-methyltransferase (TPMT) in mammalian cells: mechanism for TPMT protein deficiency inherited by TPMT*2, TPMT*3A, TPMT*3B or TPMT*3C. Pharmacogenetics (1999) 1.11

Association of thymidylate synthase variants with 5-fluorouracil cytotoxicity. Pharmacogenet Genomics (2009) 1.05

PACSIN 2 represses cellular migration through direct association with cyclin D1 but not its alternate splice form cyclin D1b. Cell Cycle (2011) 0.99

Analysis of thiopurine methyltransferase variant alleles in childhood acute lymphoblastic leukaemia. Br J Haematol (1999) 0.99

Trinucleotide repeat variants in the promoter of the thiopurine S-methyltransferase gene of patients exhibiting ultra-high enzyme activity. Pharmacogenet Genomics (2008) 0.90

Cancer pharmacogenomics. Clin Pharmacol Ther (2011) 0.89

Thiopurine S-methyltransferase pharmacogenetics: autophagy as a mechanism for variant allozyme degradation. Pharmacogenet Genomics (2008) 0.87

Articles by these authors

Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia. Nature (2007) 17.68

Classification, subtype discovery, and prediction of outcome in pediatric acute lymphoblastic leukemia by gene expression profiling. Cancer Cell (2002) 11.83

Treatment of acute lymphoblastic leukemia. N Engl J Med (2006) 11.30

Deletion of IKZF1 and prognosis in acute lymphoblastic leukemia. N Engl J Med (2009) 10.54

BCR-ABL1 lymphoblastic leukaemia is characterized by the deletion of Ikaros. Nature (2008) 10.12

The genetic basis of early T-cell precursor acute lymphoblastic leukaemia. Nature (2012) 9.89

Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N Engl J Med (2009) 8.20

Treating childhood acute lymphoblastic leukemia without cranial irradiation. N Engl J Med (2009) 7.95

Acute lymphoblastic leukemia. N Engl J Med (2004) 7.83

Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome. Science (2013) 5.64

Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia. N Engl J Med (2014) 5.37

A subtype of childhood acute lymphoblastic leukaemia with poor treatment outcome: a genome-wide classification study. Lancet Oncol (2009) 5.22

Ancestry and pharmacogenomics of relapse in acute lymphoblastic leukemia. Nat Genet (2011) 4.93

Early T-cell precursor leukaemia: a subtype of very high-risk acute lymphoblastic leukaemia. Lancet Oncol (2009) 4.89

Implementing genomic medicine in the clinic: the future is here. Genet Med (2013) 4.89

Genetic alterations activating kinase and cytokine receptor signaling in high-risk acute lymphoblastic leukemia. Cancer Cell (2012) 4.41

Rearrangement of CRLF2 in B-progenitor- and Down syndrome-associated acute lymphoblastic leukemia. Nat Genet (2009) 4.35

The tumor lysis syndrome. N Engl J Med (2011) 4.29

Improved outcome for children with acute lymphoblastic leukemia: results of Total Therapy Study XIIIB at St Jude Children's Research Hospital. Blood (2004) 4.21

Molecular response to treatment redefines all prognostic factors in children and adolescents with B-cell precursor acute lymphoblastic leukemia: results in 3184 patients of the AIEOP-BFM ALL 2000 study. Blood (2010) 4.17

Gene-expression patterns in drug-resistant acute lymphoblastic leukemia cells and response to treatment. N Engl J Med (2004) 4.16

A treatment protocol for infants younger than 1 year with acute lymphoblastic leukaemia (Interfant-99): an observational study and a multicentre randomised trial. Lancet (2007) 3.94

"Inside-out" signaling of sphingosine-1-phosphate: therapeutic targets. Pharmacol Rev (2008) 3.80

Gene expression profiling of pediatric acute myelogenous leukemia. Blood (2004) 3.77

Minimal residual disease-directed therapy for childhood acute myeloid leukaemia: results of the AML02 multicentre trial. Lancet Oncol (2010) 3.76

CREBBP mutations in relapsed acute lymphoblastic leukaemia. Nature (2011) 3.72

Germline genomic variants associated with childhood acute lymphoblastic leukemia. Nat Genet (2009) 3.71

Effect of thalidomide on clinical remission in children and adolescents with refractory Crohn disease: a randomized clinical trial. JAMA (2013) 3.67

Extended follow-up of long-term survivors of childhood acute lymphoblastic leukemia. N Engl J Med (2003) 3.57

Multicenter independent assessment of outcomes in chronic myeloid leukemia patients treated with imatinib. J Natl Cancer Inst (2011) 3.51

The genomic landscape of hypodiploid acute lymphoblastic leukemia. Nat Genet (2013) 3.43

Key pathways are frequently mutated in high-risk childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group. Blood (2011) 3.40

Guidelines for the management of pediatric and adult tumor lysis syndrome: an evidence-based review. J Clin Oncol (2008) 3.34

Anthracycline-related cardiomyopathy after childhood cancer: role of polymorphisms in carbonyl reductase genes--a report from the Children's Oncology Group. J Clin Oncol (2011) 3.05

Moving towards individualized medicine with pharmacogenomics. Nature (2004) 2.99

Pharmacogenomics and individualized drug therapy. Annu Rev Med (2006) 2.95

Direct ubiquitination of pattern recognition receptor FLS2 attenuates plant innate immunity. Science (2011) 2.93

Robust estimation of the false discovery rate. Bioinformatics (2006) 2.87

NKAML: a pilot study to determine the safety and feasibility of haploidentical natural killer cell transplantation in childhood acute myeloid leukemia. J Clin Oncol (2010) 2.85

Pediatric acute lymphoblastic leukemia: where are we going and how do we get there? Blood (2012) 2.82

Results of therapy for acute lymphoblastic leukemia in black and white children. JAMA (2003) 2.77

Improving false discovery rate estimation. Bioinformatics (2004) 2.77

Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia. JAMA (2009) 2.72

Acute mixed lineage leukemia in children: the experience of St Jude Children's Research Hospital. Blood (2009) 2.70

Sphingosine kinases, sphingosine 1-phosphate, apoptosis and diseases. Biochim Biophys Acta (2006) 2.62

Outcomes after induction failure in childhood acute lymphoblastic leukemia. N Engl J Med (2012) 2.60

Deep-sequencing approach for minimal residual disease detection in acute lymphoblastic leukemia. Blood (2012) 2.55