Publications by authors named "S Van Dooren"
Article Synopsis
- Brugada syndrome (BrS) is linked to dangerous heart rhythms called ventricular fibrillation (VF), and this study explores VF mapping using ECG imaging to understand the relationship between different VF mechanisms.* -
- The researchers focused on patients diagnosed with BrS who experienced VF during a specific heart procedure, analyzing various heart rhythm maps to identify spatial correlations between repolarization gradients and VF triggers.* -
- Results showed that most BrS patients had distinct "repolarization cliffs" that initiated VF, suggesting these cliffs could be important targets for treatment to prevent VF recurrence.*
In recent years, pathogenic variants in ARS genes, encoding aminoacyl-tRNA synthetases (aaRSs), have been associated with human disease. Patients harbouring pathogenic variants in ARS genes have clinical signs partly unique to certain aaRSs defects, partly overlapping between the different aaRSs defects. Diagnosis relies mostly on genetics and remains challenging, often requiring functional validation of new ARS variants.
View Article and Find Full Text PDFNuclear Speckle Splicing Regulator Protein 1 (NSRP1) is a splice factor found in nuclear speckles, which are small membrane-free organelles implicated in epigenetic regulation, chromatin organization, DNA repair, and RNA modification. Bi-allelic loss-of-function variants in NSRP1 have recently been identified in patients suffering from a severe neurodevelopmental disorder, presenting with neurodevelopmental delay, epilepsy, microcephaly, hypotonia, and spastic cerebral palsy. Described patients acquired neither independent walking nor speech and often showed anomalies on cerebral MRI.
View Article and Find Full Text PDFA DPD deficiency should be considered in case of severe toxicity even in the absence of common risk variants in DPYD.
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