Publications by authors named "Lisa van den Bersselaar"
Background: Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder with a high risk for arterial, bowel, and uterine rupture, caused by heterozygous pathogenic variants in . The aim of this cohort study is to provide further insights into the natural history of vEDS and describe genotype-phenotype correlations in a Dutch multicenter cohort to optimize patient care and increase awareness of the disease.
Methods: Individuals with vEDS throughout the Netherlands were included.
Rationale: Pathogenic (P)/likely pathogenic (LP) SMAD3 variants cause Loeys-Dietz syndrome type 3 (LDS3), which is characterized by arterial aneurysms, dissections and tortuosity throughout the vascular system combined with osteoarthritis.
Objectives: Investigate the impact of P/LP SMAD3 variants with functional tests on patient-derived fibroblasts and vascular smooth muscle cells (VSMCs), to optimize interpretation of SMAD3 variants.
Methods: A retrospective analysis on clinical data from individuals with a P/LP SMAD3 variant and functional analyses on SMAD3 patient-derived VSMCs and SMAD3 patient-derived fibroblasts, differentiated into myofibroblasts.
Article Synopsis
- The study investigates the connection between genetic variants of the TNNI3K gene and various heart conditions like dilated cardiomyopathy (DCM) and cardiac conduction disease, emphasizing the inconsistent findings in previous research.
- Researchers performed genetic testing on patients with heart issues and used data from the UK Biobank, identifying a higher occurrence of rare variants in DCM patients and linking specific novel variants to DCM and atrial fibrillation.
- The results suggest that certain rare variants enhance the autophosphorylation of TNNI3K, indicating a potential mechanism for their role in causing heart diseases, while one variant appeared harmless due to reduced autophosphorylation activity. *
Neurofibromatosis type 1 (NF1) is caused by inactivating mutations in NF1. Due to the size, complexity, and high mutation rate at the NF1 locus, the identification of causative variants can be challenging. To obtain a molecular diagnosis in 15 individuals meeting diagnostic criteria for NF1, we performed transcriptome analysis (RNA-seq) on RNA obtained from cultured skin fibroblasts.
View Article and Find Full Text PDFPurpose: Heterozygous pathogenic/likely pathogenic (P/LP) variants in the ACTA2 gene confer a high risk for thoracic aortic aneurysms and aortic dissections. This retrospective multicenter study elucidates the clinical outcome of ACTA2-related vasculopathies.
Methods: Index patients and relatives with a P/LP variant in ACTA2 were included.