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Author

Dieter P. Reinhardt

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Open access Oct 2026

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...

Júlia Huguet Herrero, P. Arnaud, A. Bibimbou et al. · 0 citations
Open access Aug 2026

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.

Junedh M. Amrute, Lihua Jiang, Nikhita Bolar et al. · 0 citations

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