Ontology highlight
ABSTRACT:
INSTRUMENT(S): LTQ Orbitrap Velos
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Erythrocyte, Blood
DISEASE(S): Congenital Hemolytic Anemia
SUBMITTER: Emilie-Fleur GAUTIER
LAB HEAD: Loïc Garçon
PROVIDER: PXD031963 | Pride | 2023-03-11
REPOSITORIES: Pride
Items per page: 1 - 5 of 54 |
Frontiers in physiology 20221201
Hereditary xerocytosis is a dominant red cell membrane disorder characterized by an increased leak of potassium from the inside to outside the red blood cell membrane, associated with loss of water leading to red cell dehydration and chronic hemolysis. 90% of cases are related to heterozygous gain of function mutations in PIEZO1, encoding a mechanotransductor that translates a mechanical stimulus into a biological signaling. Data are still required to understand better PIEZO1-HX pathophysiology. ...[more]