Elastin-driven genetic diseases.
Ontology highlight
ABSTRACT:
SUBMITTER: Duque Lasio ML
PROVIDER: S-EPMC8409172 | biostudies-literature | 2018 Oct
REPOSITORIES: biostudies-literature
Publications
Elastin-driven genetic diseases.
Duque Lasio Maria Laura ML Kozel Beth A BA
Matrix biology : journal of the International Society for Matrix Biology 20180228
Elastic fibers provide recoil to tissues that undergo repeated deformation, such as blood vessels, lungs and skin. Composed of elastin and its accessory proteins, the fibers are produced within a restricted developmental window and are stable for decades. Their eventual breakdown is associated with a loss of tissue resiliency and aging. Rare alteration of the elastin (ELN) gene produces disease by impacting protein dosage (supravalvar aortic stenosis, Williams Beuren syndrome and Williams Beuren ...[more]
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