Sequencing of NOTCH1 gene in an Italian population with bicuspid aortic valve: Preliminary results from the GISSI OUTLIERS VAR study.

CONCLUSIONS: Completing the genotyping of 62 BAV patients we found 11 new variants in the NOTCH1 gene never yet reported. These findings confirm that the identification of new, clinically remarkable biomarkers for BAV requires a deeper genetic understanding of the NOTCH1 gene variants, which could be targeted by future diagnostic and therapeutic strategies.
PMID: 31330235 [PubMed - as supplied by publisher]

Source: Gene - July 18, 2019 Category: Genetics & Stem Cells Authors: Pileggi S, De Chiara B, Magnoli M, Franzosi MG, Merlanti B, Bianchini F, Moreo A, Romeo G, Russo CF, Rizzo S, Basso C, Martinelli L, Maseri A, VAR Study Group Tags: Gene Source Type: research