Search Results - "Largiadèr, Carlo"
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Clinical importance of risk variants in the dihydropyrimidine dehydrogenase gene for the prediction of early‐onset fluoropyrimidine toxicity
Published in International journal of cancer (01-02-2015)“…We investigated the clinical relevance of dihydropyrimidine dehydrogenase gene (DPYD) variants to predict severe early‐onset fluoropyrimidine (FP) toxicity, in…”
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Using the PharmCAT tool for Pharmacogenetic clinical decision support
Published in Briefings in bioinformatics (22-11-2023)“…Here, we will provide our insights into the usage of PharmCAT as part of a pharmacogenetic clinical decision support pipeline, which addresses the challenges…”
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Association of the Intestinal Microbiome with the Development of Neovascular Age-Related Macular Degeneration
Published in Scientific reports (17-01-2017)“…Age-related macular degeneration (AMD) is the most frequent cause of blindness in the elderly. There is evidence that nutrition, inflammation and genetic risk…”
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Annual incidence and severity of acute episodes in hereditary thrombotic thrombocytopenic purpura
Published in Blood (24-06-2021)“…Hereditary thrombotic thrombocytopenic purpura (hTTP) is a rare thrombotic microangiopathy characterized by severe congenital ADAMTS13 deficiency and recurring…”
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Fluoropyrimidine chemotherapy: recommendations for DPYD genotyping and therapeutic drug monitoring of the Swiss Group of Pharmacogenomics and Personalised Therapy
Published in Swiss medical weekly (24-11-2020)“…Fluoropyrimidines (FPs), mainly 5-fluorouracil (5-FU) and its oral prodrug capecitabine (Cap), remain the backbone of the treatment of many different solid…”
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Haplotype structure defines effects of common DPYD variants c.85T > C (rs1801265) and c.496A > G (rs2297595) on dihydropyrimidine dehydrogenase activity: Implication for 5‐fluorouracil toxicity
Published in British journal of clinical pharmacology (01-08-2021)“…Aims The aim of this study was to identify risk variants and haplotypes that impair dihydropyrimidine dehydrogenase (DPD) activity and are, therefore,…”
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The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017
Published in Haematologica (Roma) (01-10-2019)“…Congenital thrombotic thrombocytopenic purpura is an autosomal recessive inherited disease with a clinically heterogeneous course and an incompletely…”
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Determinants of Interpatient Variability in Treosulfan Pharmacokinetics in AML Patients Undergoing Autologous Stem Cell Transplantation
Published in International journal of molecular sciences (01-08-2024)“…Limited data on treosulfan pharmacokinetics in adults, particularly regarding autologous stem cell transplantation (ASCT) in acute myeloid leukemia (AML), is…”
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LC-MS/MS method for simultaneous analysis of uracil, 5,6-dihydrouracil, 5-fluorouracil and 5-fluoro-5,6-dihydrouracil in human plasma for therapeutic drug monitoring and toxicity prediction in cancer patients
Published in Biomedical chromatography (01-01-2013)“…ABSTRACT The chemotherapeutic drug 5‐fluorouracil (5‐FU) is widely used for treating solid tumors. Response to 5‐FU treatment is variable with 10–30% of…”
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Dihydropyrimidine Dehydrogenase Testing prior to Treatment with 5-Fluorouracil, Capecitabine, and Tegafur: A Consensus Paper
Published in Oncology research and treatment (01-11-2020)“…5-Fluorouracil (FU) is one of the most commonly used cytostatic drugs in the systemic treatment of cancer. Treatment with FU may cause severe or…”
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Approach for Phased Sequence-Based Genotyping of the Critical Pharmacogene Dihydropyrimidine Dehydrogenase ( DPYD )
Published in International journal of molecular sciences (11-07-2024)“…Pre-treatment genotyping of four well-characterized toxicity risk-variants in the dihydropyrimidine dehydrogenase gene ( ) has been widely implemented in…”
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Genotype-guided fluoropyrimidine dosing: ready for implementation
Published in The lancet oncology (01-11-2018)“…More than 20 years have passed since dihydropyrimidine dehydrogenase (DPD; encoded by the gene DPYD) deficiency was first described as a pharmacogenetic…”
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Clinical relevance of DPYD variants c.1679T>G, c.1236G>A/HapB3, and c.1601G>A as predictors of severe fluoropyrimidine-associated toxicity: a systematic review and meta-analysis of individual patient data
Published in The lancet oncology (01-12-2015)“…Summary Background The best-known cause of intolerance to fluoropyrimidines is dihydropyrimidine dehydrogenase (DPD) deficiency, which can result from…”
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The gut microbiome and HLA-B27-associated anterior uveitis: a case-control study
Published in Journal of neuroinflammation (07-05-2024)“…The human gut microbiome (GM) is involved in inflammation and immune response regulation. Dysbiosis, an imbalance in this ecosystem, facilitates pathogenic…”
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Increased erythroferrone levels in malarial anaemia
Published in British journal of haematology (01-05-2024)“…Summary We assessed the diagnostic potential of erythroferrone as a biomarker for iron homeostasis comparing iron deficiency cases with anaemia of inflammation…”
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Rs895819 in MIR27A improves the predictive value of DPYD variants to identify patients at risk of severe fluoropyrimidine‐associated toxicity
Published in International journal of cancer (01-06-2016)“…The objective of this study was to determine whether genotyping of MIR27A polymorphisms rs895819A>G and rs11671784C>T can be used to improve the predictive…”
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Serological testing for SARS‐CoV‐2 antibodies in clinical practice: A comparative diagnostic accuracy study
Published in Allergy (Copenhagen) (01-07-2022)“…Background Serological tests are a powerful tool in the monitoring of infectious diseases and the detection of host immunity. However, manufacturers often…”
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Comparison of methods for donor-derived cell-free DNA quantification in plasma and urine from solid organ transplant recipients
Published in Frontiers in genetics (27-01-2023)“…In allograft monitoring of solid organ transplant recipients, liquid biopsy has emerged as a novel approach using quantification of donor-derived cell-free DNA…”
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Recent habitat fragmentation caused by major roads leads to reduction of gene flow and loss of genetic variability in ground beetles
Published in Proceedings of the Royal Society. B, Biological sciences (22-02-2003)“…estimates, whereas the age of the road and the geographical distance between locations were not significant factors. Furthermore, a comparison of allelic…”
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Come a long way, still a ways to go: from predicting and preventing fluoropyrimidine toxicity to increased efficacy?
Published in Pharmacogenomics (01-06-2018)“…[...]450 exonic variants in DPYD with potentially damaging effect have been reported (7). [...]to 5-FU, capecitabine and its downstream metabolites are…”
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