Publications by authors named "Alessia Bernini Di Michele"
Article Synopsis
- Channelopathies are inherited conditions from gene mutations affecting ion channels, leading to conditions like long QT syndrome and CPVT, which are difficult to diagnose, especially with certain genetic variants.
- The review highlights the abundance of splicing-site variants of unclear significance in channelopathy-related genes and emphasizes the need for further research and advanced methods like RNA sequencing and in silico studies to better understand these variants.
Sudden cardiac death (SCD) is one of the leading causes of death in the world and for this reason it has attracted the attention of numerous researchers in the field of legal medicine. It is not easy to determine the cause in a SCD case and the available methods used for diagnosis cannot always give an exhaustive answer. In addition, the molecular analysis of genes does not lead to a clear conclusion, but it could be interesting to focus attention on the expression level of miRNAs, a class of non-coding RNA of about 22 nucleotides.
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