Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia

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,...

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Detalles Bibliográficos
Autores principales: Lukacs, Viktor, Mathur, Jayanti, Mao, Rong, Bayrak-Toydemir, Pinar, Procter, Melinda, Cahalan, Stuart M., Kim, Helen J., Bandell, Michael, Longo, Nicola, Day, Ronald W., Stevenson, David A., Patapoutian, Ardem, Krock, Bryan L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4578306/
https://www.ncbi.nlm.nih.gov/pubmed/26387913
http://dx.doi.org/10.1038/ncomms9329

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