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

@inproceedings{Albuisson2013DehydratedHS,
  title={Dehydrated Hereditary Stomatocytosislinked to gain-of-function mutations in mechanically activated PIEZO1 ion channels},
  author={Juliette Albuisson and Swetha E. Murthy and Michael Bandell and Bertrand Coste and H{\'e}l{\`e}ne Louis-dit-Picard and J. M. S. Mathur and Madeleine F{\'e}n{\'e}ant-Thibault and G{\'e}rard Tertian and Jean-Pierre de Jaur{\'e}guiberry and Pierre-Yves Syfuss and Stuart M. Cahalan and Loic Garçon and Fabienne Toutain and P. S. Rohrlich and Jean Delaunay and V{\'e}ronique Picard and Xavier Jeunema{\^i}tre and Ardem Patapoutian},
  booktitle={Nature communications},
  year={2013}
}
Dehydrated hereditary stomatocytosis is a genetic condition with defective red blood cell membrane properties that causes an imbalance in intracellular cation concentrations. Recently, two missense mutations in the mechanically activated PIEZO1 (FAM38A) ion channel were associated with dehydrated hereditary stomatocytosis. However, it is not known how these mutations affect PIEZO1 function. Here, by combining linkage analysis and whole-exome sequencing in a large pedigree and Sanger sequencing… CONTINUE READING