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And he was surprised by what he learned. And so it goes in the fledgling genome field. James Lupski of the Baylor College of Medicine in Houston studied his own entire DNA map and sequenced the genomes of family members — including his deceased grandfather — to diagnose the mutation causing his rare genetic nerve disease, called Charcot-Marie-Tooth syndrome.

We have also analyzed the treatment after the disease progression on TKIs, and the particularities of the definition of progression in these cases. Another theme approached in this piece of work was cancer genetic mutations acquired resistance to TKIs and the management of this resistance.

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Mutaţii BRCA1 şi BRCA2 – cancer ereditar sân/ovar

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APELA (apelin receptor early endogenous ligand)

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Un receptor activ ErbB este format de unirea a două molecule, un proces numit dimerizare.

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