Publications by authors named "J Reifenberger"

Article Synopsis
  • Malignant sweat gland tumors, particularly eccrine porocarcinoma (EP), are rare, with about 18% of benign eccrine poroma (EPO) cases progressing to EP, highlighting a need for more understanding of EP biology and mutations involved in this transformation.
  • Transcriptome profiling of 23 EP and normal skin samples showed significant gene expression diversity and downregulation in EP, including specific genes that indicated a stepwise transition from normal skin to EPO to EP.
  • The study suggests that EP has a complex molecular nature linked to tumor development, with potential involvement of the p53 and EGFR pathways, and calls for further research with larger sample sizes to validate these findings.
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Background: The coronavirus disease 2019 (COVID-19) is associated with a wide clinical spectrum of skin manifestations, including urticarial, vesicular, vasculitic and chilblain-like lesions. Recently, delayed skin reactions have been reported in 1% individuals following mRNA vaccination against SARS-CoV-2. The exact pathophysiology and the risk factors still remain unclear.

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Malignant sweat gland tumours are rare, with the most common form being Eccrine porocarcinoma (EP). To investigate the mutational landscape of EP, we performed whole-exome sequencing (WES) on 14 formalin-fixed paraffin-embedded samples of matched primary EP and healthy surrounding tissue. Mutational profiling revealed a high overall median mutation rate.

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The preparation of sequence-defined macromolecules using cyclic sulfamidates on solid-phase is outlined. The challenges surrounding an AB+CD approach are described with focus on understanding the formation of ring-opened side products when using amide coupling reagents. To avoid undesired side product formation, a strategy of iterative ring-openings of cyclic sulfamidates on solid-phase is explored.

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