Byers Peter H, Murray Mitzi L
Department of Pathology, University of Washington, Seattle, WA 98195-7470, United States; Department of Medicine (Medical Genetics), University of Washington, Seattle, WA 98195-7470, United States.
Department of Pathology, University of Washington, Seattle, WA 98195-7470, United States; Department of Medicine (Medical Genetics), University of Washington, Seattle, WA 98195-7470, United States.
Matrix Biol. 2014 Jan;33:10-5. doi: 10.1016/j.matbio.2013.07.005. Epub 2013 Aug 3.
The Ehlers-Danlos syndromes (EDS) are genetically and clinically diverse disorders in which affected individuals share a number of physical characteristics, including joint hypermobility, skin extensibility, and tissue friability. Clinical investigations opened the door to identifying the biochemical and molecular etiologies of this diverse but overlapping group of disorders. In this article, we provide an overview of how these disorders inform our understanding of matrix biology, including the role of collagens (types I, III and V), proteoglycans and other proteins.
埃勒斯-当洛综合征（EDS）是一组在遗传和临床方面具有多样性的疾病，受累个体具有一些共同的身体特征，包括关节活动过度、皮肤延展性和组织脆性。临床研究为确定这一多样但有重叠的疾病组的生化和分子病因打开了大门。在本文中，我们概述了这些疾病如何增进我们对基质生物学的理解，包括胶原蛋白（I型、III型和V型）、蛋白聚糖和其他蛋白质的作用。
