Dehydrated Hereditary Stomatocytosislinked to gain-of-function mutations in mechanically activated PIEZO1 ion channels

Dehydrated hereditary stomatocytosis (DHS) is a genetic condition with defective red blood cell (RBC) membrane properties that causes an imbalance in intracellular cation concentrations. Recently, two missense mutations inthe mechanically activated PIEZO1(FAM38A) ion channel were associated with DHS...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Albuisson, Juliette, Murthy, Swetha E., Bandell, Michael, Coste, Bertrand, Louis-dit-Picard, Hélène, Mathur, Jayanti, Fénéant-Thibault, Madeleine, Tertian, Gérard, de Jaureguiberry, Jean-Pierre, Syfuss, Pierre-Yves, Cahalan, Stuart, Garçon, Loic, Toutain, Fabienne, Rohrlich, Pierre Simon, Delaunay, Jean, Picard, Véronique, Jeunemaitre, Xavier, Patapoutian, Ardem
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2013
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3674779/
https://ncbi.nlm.nih.gov/pubmed/23695678
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms2899
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