Genetic diseases of PIEZO1 and PIEZO2 dysfunction
SL Alper - Current topics in membranes, 2017 - Elsevier
Mutations in the genes encoding the mechanosensitive cation channels PIEZO1 and
PIEZO2 are responsible for multiple hereditary human diseases. Loss-of-function mutations
in the human PIEZO1 gene cause autosomal recessive congenital lymphatic dysplasia. Gain-
of-function mutations in the human PIEZO1 gene cause the autosomal dominant hemolytic
anemia, hereditary xerocytosis (also known as dehydrated stomatocytosis). Loss-of-function
mutations in the human PIEZO2 gene cause an autosomal recessive syndrome of muscular …
PIEZO2 are responsible for multiple hereditary human diseases. Loss-of-function mutations
in the human PIEZO1 gene cause autosomal recessive congenital lymphatic dysplasia. Gain-
of-function mutations in the human PIEZO1 gene cause the autosomal dominant hemolytic
anemia, hereditary xerocytosis (also known as dehydrated stomatocytosis). Loss-of-function
mutations in the human PIEZO2 gene cause an autosomal recessive syndrome of muscular …