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  1. Article

    Open Access

    Augmenting MEK inhibitor efficacy in BRAF wild-type melanoma: synergistic effects of disulfiram combination therapy

    MEK inhibitors (MEKi) were shown to be clinically insufficiently effective in patients suffering from BRAF wild-type (BRAF WT) melanoma, even if the MAPK pathway was constitutively activated due to mutations i...

    Francisco Meraz-Torres, Heike Niessner in Journal of Experimental & Clinical Cancer … (2024)

  2. Article

    Open Access

    Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)?

    Homozygous mutation of TBC1 domain-containing kinase (TBCK) is the cause of a very recently defined severe childhood disorder, which is characterized by severe hypotonia, global developmental delay, intellectual ...

    Stefanie Beck-Wödl, Klaus Harzer, Marc Sturm in Acta Neuropathologica Communications (2018)

  3. No Access

    Article

    Toward the complete genomic map and molecular pathology of human chromosome 4

    The identification of disease genes via molecular DNA cloning has revolutionized human genetics and medicine. Both the candidate gene approach and positional cloning have been used successfully. The defects ca...

    Olaf Rieß, Birgit Winkelmann, Jörg T. Epplen in Human Genetics (1994)