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Byers P.H

As seen in: Cell Press, Cell Reports, The American Journal of Human Genetics, JACC (Journal of the American College of Cardiology), The Journal of Biological Chemistry, European Journal of Obstetrics & Gynaecology and Reproductive Biology, Journal of The American Society of Echocardiography, European Journal of Vascular and Endovascular Surgery, Annals of Vascular Surgery, Arthroplasty Today
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Articles

Differences in Arterial Events in Vascular Ehlers-Danlos, Loeys-Dietz, and Marfan Syndrome:

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By Superti-Furga A, Byers P.H, Putnam E.A, Zinn A.B
| JACC (Journal of the American College of Cardiology)
Introduction Pathogenic/likely pathogenic variants (PVs) in 12 genes confer a highly penetrant risk for thoracic aortic aneurysm and dissection, termed heritable thoracic aortic disease (HTAD).1 Genes associated with HTAD and the function of the corresponding proteins are the following: FBN1, LOX, and COL3A1, which encode proteins in the extracellular matrix; TGFBR1, TGFBR2, SMAD3, TGFB2, and TGFB3, which encode proteins involved the canonical TGF-β signaling pathway (termed transforming...
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Pathogenic mechanisms in genetically defined Ehlers-Danlos syndromes

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By Byers P.H, Delfien Syx, Fransiska Malfait
| Cell Press Verified
Highlights Ehlers–Danlos syndromes (EDS) are a group of multisystemic conditions that share soft and hyperextensible skin, abnormal wound healing, easy bruising, joint hypermobility, and chronic pain, with variable involvement of cardiovascular, musculoskeletal, and ocular systems. Alterations in collagen fibril morphology and organization are a unifying feature in all EDS types, despite a diverse range of underlying disease genes and molecular defects.
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Practice Patterns and Barriers to Vascular Genetic Testing among Vascular Surgeons

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By Byers P.H, James M. Dittman, Endovascular Surgery, CARE Hospitals
| Annals of Vascular Surgery Verified
Highlights • 85% of vascular surgeons wanted to incorporate aortopathy genetic testing into their practices. • The top motivating factor for incorporating testing was evidence-based society guidelines. • Top barriers were insurance coverage, genetic testing costs, and access to genetic counseling. ABSTRACT Engaging patients living with or at risk for aortic dissection via the Aortic Dissection Collaborative, physician education in vascular genetics was identified as a research priority.
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