Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia
Abstract
Piezo1 ion channels are mediators of mechanotransduction in several cell types including the vascular endothelium, renal tubular cells and erythrocytes. Gain-of-function mutations in PIEZO1 cause an autosomal dominant haemolytic anaemia in humans called dehydrated hereditary stomatocytosis. However, the phenotypic consequence of PIEZO1 loss of function in humans has not previously been documented. Here we discover a novel role of this channel in...
Paper Details
Title
Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia
Published Date
Sep 21, 2015
Journal
Volume
6
Issue
1
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