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Loss of function variants in ADAMTS6: a new connective tissue disorder with heart defect, aortic aneurysm and neurodevelopmental features.
PURPOSE Marfan syndrome, Loeys-Dietz syndrome, and heritable thoracic aortic aneurysms and dissections (hTAAD) are autosomal dominant connective-tissue disorders with overlapping features and considerable genetic variability. Many cases arise from pathogenic variants affecting extracellular matrix (ECM) components or T...
Single-Cell Proteomics Uncovers Cell-Specific Proteins in Vascular Health and Marfan Syndrome Disease
The first human single-cell proteomic atlas of the aorta is established, altered FBN1 protein regulation in both human and mouse MFS is revealed, and single-cell proteomics is position as a transformative framework for decoding vascular plasticity and identifying actionable effectors in disease.