2018
DOI: 10.1113/jp275718
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Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes?

Abstract: PIEZO1 is a large mechanosensitive ion channel protein. Diseases associated with PIEZO1 include autosomal recessive generalised lymphatic dysplasia of Fotiou (GLDF) and autosomal dominant dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal oedema (DHS). The two disorders show overlapping features, fetal hydrops/perinatal oedema have been reported in both. Electrophysiological studies suggest opposite mechanisms of action: the mutations identified in GLDF patients cause a lo… Show more

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Cited by 39 publications
(61 citation statements)
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“…The fourth gene, PIEZO1 , encodes a mechanically activated ion‐channel and is important in red blood cell morphology and development of lymphatic structures. A recent review (Martin‐Almedina, Mansour, & Ostergaard, ) discussed two distinct phenotypes caused by PIEZO mutations. Gain‐of‐function mutations in this gene are a known cause of Dehydrated Hereditary Stomatocytosis leading to hemolytic anemia (Albuisson et al, ; Bae, Gnanasambandam, Nicolai, Sachs, & Gottlieb, ).…”
Section: Discussionmentioning
confidence: 99%
“…The fourth gene, PIEZO1 , encodes a mechanically activated ion‐channel and is important in red blood cell morphology and development of lymphatic structures. A recent review (Martin‐Almedina, Mansour, & Ostergaard, ) discussed two distinct phenotypes caused by PIEZO mutations. Gain‐of‐function mutations in this gene are a known cause of Dehydrated Hereditary Stomatocytosis leading to hemolytic anemia (Albuisson et al, ; Bae, Gnanasambandam, Nicolai, Sachs, & Gottlieb, ).…”
Section: Discussionmentioning
confidence: 99%
“…Here we present a review series associated with our 'Piezo channel mechanisms and disease' symposium at the International Union of Physiological Sciences (IUPS) congress in Rio de Janeiro on 3 August 2017. The series focuses on three key topics from the symposium: Piezo1 channel structure , Piezo1 in vascular physiology (Beech, 2018) and Piezo1 in genetic disease (Martin-Almedina et al 2018). The structure article reviews the breakthrough in determining the tri-blade propeller-like arrangement of Piezo1 channels and discusses the hypothesis that the channels comprise discrete mechano-transduction and ion-conducting modules which coordinate to fulfil the overall purpose of the channels .…”
Section: Focus Of the Review Seriesmentioning
confidence: 99%
“…The physiology article reviews current knowledge of the role of Piezo1 channels in the endothelium, discussing the hypothesis that the channels are key sensors of the frictional force of blood flow, leading them to be essential in vascular development and necessary for redistribution of blood flow in exercise and optimal physical performance (Beech, 2018). The disease article reviews PIEZO1 mutations which cause disease, discussing the relationship between stomatocytosis and lymphatic dysplasia and the challenges of understanding the disease consequences of loss-of-function and gain-of-function mutations (Martin-Almedina et al 2018).…”
Section: Focus Of the Review Seriesmentioning
confidence: 99%
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