Publications by authors named "R Santacroce"
Article Synopsis
- Wiedemann-Steiner syndrome (WSS) is a rare genetic condition linked to impaired gene expression due to mutations affecting chromatin proteins, leading to various developmental issues.
- A study focused on a 10-year-old girl with signs of WSS utilized whole exome sequencing (WES) and Sanger resequencing to identify a new mutation in the KMT2A gene, which is considered likely pathogenic.
- Computational modeling of the mutated protein indicated that this change could disrupt its functionality by altering its DNA binding capabilities, providing further insight into the genetic basis of WSS.
Background: Brugada syndrome (BrS) is an inherited primary channelopathy syndrome associated with the risk of ventricular fibrillation (VF) and sudden cardiac death in a structurally normal heart.
Aim Of The Study: The aim of this study was to clinically and genetically evaluate a large family with severe autosomal dominant Brugada syndrome.
Methods: Clinical and genetic studies were performed.
Background: In the recent years, there was an important improvement in the understanding of the pathogenesis of hereditary angioedema (HAE). Notwithstanding, in a large portion of patients with unknown mutation (HAE-UNK) the genetic cause remains to be identified.
Objectives: To identify new genetic targets associated with HAE, a large Argentine family with HAE-UNK spanning 3 generations was studied.
Article Synopsis
- Gene-gene interactions are believed to play a significant role in the development of multifactorial diseases like cerebral venous thrombosis (CVT), highlighting potential causes of unexplained heritability.
- A study involving 882 CVT patients and 1,205 control participants found that specific gene variants significantly increased the likelihood of developing CVT, particularly when individuals had certain blood types.
- The research concluded that the interactions between specific genes could raise the risk of CVT by as much as 14 times, underscoring the importance of understanding these genetic factors in disease etiology.