Yvonne Gloor

Busulfan resistance in AML is associated with changes in mitochondrial copy number and lipid metabolism

Vid Mlakar, Simona Jurković Mlakar, Yvonne Gloor, Isabelle Dupanloup et autres

Busulfan (BU) is DNA-damaging and also a reactive oxygen species (ROS) generating agent. Both mitochondrial DNA copy number (mtDNA-CN) and ROS levels have been associated with the sensitivity of solid tumor cells to ROS-generating cisplatin. However, the changes of mtDNA-CN during the …

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Physiologically Based Pharmacokinetic Virtual Twin Approach for Fludarabine Dosing in Pediatric Hematopoietic Stem Cell Transplantation

Mourad Mseddi, Christa Ellen Nath, Khalil Ben Hassine, Vid Mlakar et autres

ABSTRACT Fludarabine (Flu), administered as a prodrug Flu monophosphate, is a lymphodepleting agent used prior to hematopoietic stem cell transplantation (HSCT) which exhibits substantial pharmacokinetics (PK) variability, contributing to suboptimal outcomes. This study developed and validated a physiologically based pharmacokinetic (PBPK) model …

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Molecular Profiling of SYT-SSX Fusion Transcripts for Enhanced Diagnosis of Synovial Sarcomas

Sara Louati, Kaoutar Bentayebi, Ibtissam Saad, Yvonne Gloor et autres

Background/Objectives: Synovial sarcoma (SS) is an aggressive soft-tissue tumor characterized by the chromosomal translocation t(X;18) (p11.2;q11.2), most commonly involving the fusion of the SYT gene on chromosome 18 with the SSX1 or SSX2 genes on chromosome X. This study aims to explore …

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Genetic polymorphisms contributing to hearing loss in children treated with platinum agents: a systematic review and meta-analysis protocol

Lara Chavaz, Jakica Ćavar Pavić, Isabelle Dupanloup, Brice Fresneau et autres

INTRODUCTION: The improved survival rates of children with cancer have heightened concerns about treatment-related chronic health conditions, including platinum-induced hearing loss (PIHL). Cisplatin and carboplatin, widely used in paediatric cancer therapies, frequently cause irreversible sensorineural hearing loss. PIHL affects 1.7-90.1% of patients …

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Molecular and Pharmacogenetic marker evaluation in relation to the toxicity and clinical response of acute lymphoblastic leukemia treatment in Indian children (MPGx-INDALL): A Prospective observational cohort study protocol (Preprint)

Swetambri Sharma, Shuvadeep Ganguly, Kamali Murugadoss, Smita Kayal et autres

BACKGROUND Understanding inter-individual variability in treatment response and toxicity is essential for optimizing outcomes in pediatric acute lymphoblastic leukemia (ALL). Molecular and pharmacogenetic markers hold promise in predicting treatment efficacy and adverse effects, particularly in genetically diverse populations. This protocol outlines the …

Roles of HLA-DRB107 :01 and HLA-B15 :01 in the risk of acute Graft Versus Host Disease in pediatric patients undergoing HSCT

Maja Krajinović, Covida Mootoosamy, Marc Ansari, Vincent Gagné et autres

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Cytochrome P450 phenotyping using the Geneva cocktail improves metabolic capacity prediction in a hospitalized patient population

Yvonne Gloor, Médéric Mouterde, Jean E. Terrier, Camille Lenoir et autres

AIMS: Liver cytochromes (CYPs) play an important role in drug metabolism but display a large interindividual variability resulting both from genetic and environmental factors. Most drug dose adjustment guidelines are based on genetics performed in healthy volunteers. However, hospitalized patients are not …

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Microcavity-assisted cloning (MAC) of hard-to-clone HepG2 cell lines: cloning made easy

Vid Mlakar, Laurence Lesne, Stefania Vossio, Isabelle Dupanloup et autres

Cloning is a key molecular biology procedure for obtaining a genetically homogenous population of organisms or cell lines. It requires the expansion of new cell populations starting from single genetically modified cells. Despite the technical progress, cloning of many cell lines remains …

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Phenoconversion Due to Drug–Drug Interactions in CYP2C19 Genotyped Healthy Volunteers

Kenza Abouir, Nadia Exquis, Yvonne Gloor, Youssef Daali et autres

To compensate for drug response variability, drug metabolism phenotypes are determined based on the results of genetic testing, and if necessary, drug dosages are adjusted. In some cases, discrepancies between predicted and observed phenotypes (phenoconversion) may occur due to drug-drug interactions caused …

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Haplotype Inference Using Long-Read Nanopore Sequencing: Application to GSTA1 Promoter

Vid Mlakar, Isabelle Dupanloup, Yvonne Gloor, Marc Ansari

Recovering true haplotypes can have important clinical consequences. The laboratory process is difficult and is, therefore, most often done through inference. In this paper, we show that when using the Oxford nanopore sequencing technology, we could recover the true haplotypes of the …

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Simulation-Based Optimization of Sampling Schedules for Model-Informed Precision Dosing of Once-Daily and 4-Times-Daily Busulfan in Pediatric Patients

Khalil Ben Hassine, Youssef Daali, Yvonne Gloor, Tiago Nava et autres

BACKGROUND: Therapeutic drug monitoring (TDM) is crucial in optimizing the outcomes of hematopoietic stem cell transplantation by guiding busulfan (Bu) dosing. Limited sampling strategies show promise for efficiently adjusting drug doses. However, comprehensive assessments and optimization of sampling schedules for Bu TDM …

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Impact of SARS-CoV-2 infection (COVID-19) on cytochromes P450 activity assessed by the Geneva cocktail.

Camille Lenoir, Jean E. Terrier, Yvonne Gloor, François Curtin et autres

Background and purpose Coronavirus Disease 2019 (COVID-19), caused by SARS-CoV-2 infection, is a severe acute respiratory syndrome with an underlying inflammatory state. We have previously demonstrated that acute inflammation modulates cytochromes P450 (CYP) activities in an isoform-specific manner. We therefore hypothesized that …

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