Article
Synonymous variants in HTRA1 implicated in AMD susceptibility impair its capacity to regulate TGF-β signaling.
Human molecular genetics - 15 Nov 2015
Friedrich Ulrike, Datta Shyamtanu, Schubert Thomas, Plössl Karolina, Schneider Magdalena, Grassmann Felix, Fuchshofer Rudolf, Tiefenbach Klaus-Jürgen, Längst Gernot, Weber Bernhard H F
Abstract excerpt
High-temperature requirement A1 (HTRA1) is a secreted serine protease reported to play a role in the development of several cancers and neurodegenerative diseases. Still, the mechanism underlying the disease processes largely remains undetermined. In age-related macular degeneration (AMD), a common cause of vision impairment and blindness in industrialized societies, two synonymous polymorphisms (rs1049331:C>T,...
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