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Aspects morphologiques et moléculaires des tumeurs malignes associées à une dérégulation des complexes BAF

Archive ouverte | Le Quang, Mégane | CCSD

International audience. BAF complexes are chromatin remodelling complexes made up of 15 subunits which overview transcription regulation. A subset of their subunits are notoriously linked to cancer, with the example...

Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA).

Archive ouverte | Courtois, Sarah | CCSD

International audience. Mitochondrial diseases are genetic disorders impairing mitochondrial functions. Here we describe a patient with a neurodegenerative condition associated with myopia, bilateral sensorineural h...

NTRK ‐rearranged spindle cell neoplasms are ubiquitous tumours of myofibroblastic lineage with a distinct methylation class

Archive ouverte | Tauziède‐espariat, Arnault | CCSD

International audience. AIMS : NTRK gene fusions have been described in a wide variety of central nervous system (CNS) and soft tissue tumours, including the provisional tumour type ‘spindle cell neoplasm, NTRK-rear...

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