Explanipedia

Unusual Causes of β Thalassemia Trait: Discovery of another Three Novel SUPT5H Variants Open

Nik Fatma Fairuz Nik Mohd Hasan, Ahlem Achour, Tamara T. Koopmann, Adriaan van Gammeren, Joep van der Leeuw , et al. · 2025

Beta (β) thalassemia is an inherited disorder that occurs following mutations or deletions in the β globin gene. Rarely, it is caused by variants in genes coding for erythroid transcriptional factors or trans-acting factors. Here, we repor…

AUTS2-related syndrome: Insights from a large European cohort Open

Lorenzo Loberti, Loredaria Adamo, E. Antolini, Giulia Casamassima, Anne Destrèe , et al. · 2025

Digital PCR cluster predictor: a universal R-package and shiny app for the automated analysis of multiplex digital PCR data Open

Alfonso De Falco, Christophe M. Olinger, Barbara Klink, Michel Mittelbronn, Daniel Stieber · 2023

Summary Digital polymerase chain reaction (dPCR) is an emerging technology that enables accurate and sensitive quantification of nucleic acids. Most available dPCR systems have two channel optics, with ad hoc software limited to the analys…

Understanding the new BRD4 ‐related syndrome: Clinical and genomic delineation with an international cohort study Open

Guillaume Jouret, Solveig Heide, Arthur Sorlin, Laurence Faivre, Sandra Chantot‐Bastaraud , et al. · 2022

BRD4 is part of a multiprotein complex involved in loading the cohesin complex onto DNA, a fundamental process required for cohesin‐mediated loop extrusion and formation of Topologically Associating Domains. Pathogenic variations in this c…

TMOD-08. PRIMARY AND RECURRENT GLIOMA PATIENT-DERIVED ORTHOTOPIC XENOGRAFTS (PDOX) REPRESENT RELEVANT PATIENT AVATARS FOR PRECISION MEDICINE Open

Anna Golebiewska, Ann‐Christin Hau, Anaïs Oudin, Daniel Stieber, Yahaya A Yabo , et al. · 2020

Patient-derived cancer models are essential tools for studying tumor biology and for preclinical interventions. Although numerous clinical cancer trials are being conducted, many fail due to inappropriate selection of compounds at the prec…

Patient-derived organoids and orthotopic xenografts of primary and recurrent gliomas represent relevant patient avatars for precision oncology Open

Anna Golebiewska, Ann‐Christin Hau, Anaïs Oudin, Daniel Stieber, Yahaya A Yabo , et al. · 2020

GENE-02. ESTABLISHING PERSONALIZED TREATMENT OPTIONS FOR RECURRENT HIGH-GRADE GLIOMAS Open

Ann‐Christin Hau, Linsey Houben, Eliane Klein, Anaïs Oudin, Daniel Stieber , et al. · 2019

BACKGROUND High grade glioma (HGG) patients develop resistance to standard treatment leading to disease progression and limited life expectancy. Recent advances in the molecular characterisation of treatment-naïve HGGs based on next genera…

OS12.2 Targeting epigenetic pathways in the treatment of recurrent high-grade glioma Open

Ann‐Christin Hau, Linsey Houben, Eliane Klein, Anaïs Oudin, Daniel Stieber , et al. · 2019

BACKGROUND High grade glioma (HGG) patients develop resistance to standard treatment leading to disease progression and limited life expectancy. Advances in the molecular characterisation of treatment-naïve HGGs based on next-generation se…

Consistency and reproducibility of next‐generation sequencing in cytopathology: A second worldwide ring trial study on improved cytological molecular reference specimens Open

Pasquale Pisapia, Umberto Malapelle, Gianluca Roma, Sonika Saddar, Qi Zheng , et al. · 2019

Background Artificial genomic reference standards in a cytocentrifuge/cytospin format with well‐annotated genomic data are useful for validating next‐generation sequencing (NGS) on routine cytopreparations. Here, reference standards were o…

Stem cell-associated heterogeneity in Glioblastoma results from intrinsic tumor plasticity shaped by the microenvironment Open

Anne Dirkse, Anna Golebiewska, Thomas Buder, Petr V. Nazarov, Arnaud Muller , et al. · 2019

CADD-33. PERSONALIZED PHARMACOGENOMICS USING GLIOMA PATIENT-DERIVED ORTHOTOPIC XENOGRAFTS (PDOXS) Open

Ann‐Christin Hau, Anna Golebiewska, Anaïs Oudin, Linsey Houben, Daniel Stieber , et al. · 2018

It is well recognized that long term cell cultures are poor models to study human cancer, largely because of loss of clonal heterogeneity, accumulation or loss of genomic alterations and adaptation to a highly artificial environment. Patie…

TMOD-29. MOLECULAR CHARACTERIZATION OF GLIOMA PATIENT-DERIVED ORTHOTOPIC XENOGRAFTS: FROM BASIC RESEARCH TO PRECLINICAL STUDIES Open

Ann‐Christin Hau, Anna Golebiewska, Anaïs Oudin, Linsey Houben, Daniel Stieber , et al. · 2018

It is well recognized that long term cell cultures are poor models to study human cancer, largely because of loss of clonal heterogeneity, accumulation or loss of genomic alterations and adaptation to a highly artificial environment. Patie…

P04.64 Molecular characterization of glioma patient derived orthotopic xenografts to improve outcome of preclinical studies Open

Anna Golebiewska, Ann‐Christin Hau, Anaïs Oudin, Linsey Houben, Daniel Stieber , et al. · 2018

It is well recognized that long term cell cultures are poor models to study human cancer, largely because of loss of clonal heterogeneity, accumulation or loss of genomic alterations and adaptation to a highly artificial environment. Patie…

PO-197 Patient-derived xenograft (PDX) models of glioblastoma: from basic research to preclinical studies Open

Anna Golebiewska, Ann‐Christin Hau, Daniel Stieber, Anaïs Oudin, Francisco Azuaje , et al. · 2018

Introduction Animal models are essential tools for basic research and preclinical therapeutic interventions. Although numerous clinical cancer trials are being conducted, many fail due to inappropriate selection of compounds at the precli…

Stem Cell-Associated Heterogeneity in Glioblastoma Is a Result of Intrinsic Tumor Plasticity Shaped by the Microenvironment Open

Anne Dirkse, Anna Golebiewska, Thomas Buder, Petr V. Nazarov, Arnaud Muller , et al. · 2018

Issue Information Open

Justin F. Gainor, Esther Diana Rossi, Maurizio Martini, Tonia Cenci, Sara Capodimonti , et al. · 2017

This review of the literature on pediatric malignant thyroid lesions emphasizes the role of cytology in enabling the correct identification of specific malignant entities and their distribution in the diagnostic categories.The higher incid…

Multi-Center Evaluation of the Fully Automated PCR-Based Idylla™ KRAS Mutation Assay for Rapid KRAS Mutation Status Determination on Formalin-Fixed Paraffin-Embedded Tissue of Human Colorectal Cancer Open

Jérôme Solassol, Julie A. Vendrell, Bruno Märkl, Christian Haas, Beatríz Bellosillo , et al. · 2016

Since the advent of monoclonal antibodies against epidermal growth factor receptor (EGFR) in colorectal cancer therapy, the determination of RAS mutational status is needed for therapeutic decision-making. Most prevalent in colorectal canc…

P05.01 Patient-derived xenograft (PDX) model of glioblastoma: from basic research to preclinical studies Open

Anna Golebiewska, Daniel Stieber, Anaïs Oudin, Francisco Azuaje, Tony Kaoma , et al. · 2016

Animal models are essential tools for basic research and for preclinical therapeutic interventions. Although numerous clinical trials have been conducted, most fail due to inappropriate selection of the compounds at the preclinical stage. …

Molecular crosstalk between tumour and brain parenchyma instructs histopathological features in glioblastoma Open

Sébastien Bougnaud, Anna Golebiewska, Anaïs Oudin, Olivier Keunen, Patrick N. Harter , et al. · 2016

The histopathological and molecular heterogeneity of glioblastomas represents a major obstacle for effective therapies. Glioblastomas do not develop autonomously, but evolve in a unique environment that adapts to the growing tumour mass an…

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