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The Microphthalmia-Associated Transcription Factor p.E318K Mutation Does Not Play a Major Role in Sporadic Renal Cell Tumors from Caucasian Patients

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Stoehr, Christine G. ; Walter, Bernhard ; Denzinger, Stefan ; Ghiorzo, Paola ; Sturm, Richard A. ; Hinze, Raoul ; Moch, Holger ; Junker, Kerstin ; Hartmann, Arndt ; Stoehr, Robert
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Date of publication of this fulltext: 28 Aug 2018 14:24


Objective: The transcription factor MITF (microphthalmia-associated transcription factor) is known to induce expression of hypoxia-inducible factor (HIF1-alpha), which is involved in renal carcinogenesis. The MITF p.E318K mutation leads to deficient SUMOylation of MITF, resulting in enhanced activation of its target genes. A case-control study on melanoma patients who coincidentally were affected ...


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