Article
The Microphthalmia-Associated Transcription Factor p.E318K Mutation Does Not Play a Major Role in Sporadic Renal Cell Tumors from Caucasian Patients.
Pathobiology : journal of immunopathology, molecular and cellular biology - 1 Jan 2016
Stoehr Christine G, Walter Bernhard, Denzinger Stefan, Ghiorzo Paola, Sturm Richard A, Hinze Raoul, Moch Holger, Junker Kerstin, Hartmann Arndt, Stoehr Robert
Abstract excerpt
OBJECTIVE: The transcription factor MITF (microphthalmia-associated transcription factor) is known to induce expression of hypoxia-inducible factor (HIF1-α), 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 by renal cell...
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