Hereditary red blood cell membrane defects. Detection of PIEZO1 mutations associated with SPTA1 mutations. An unusual clinical case of hereditary xerocytosis-Reference-Cited by-同舟云学术

Hereditary red blood cell membrane defects. Detection of PIEZO1 mutations associated with SPTA1 mutations. An unusual clinical case of hereditary xerocytosis

Published:2020-11-02 Issue:2 Volume:38 Page:184-190
ISSN:0888-0018
Container-title:Pediatric Hematology and Oncology
language:en
Short-container-title:Pediatric Hematology and Oncology

Author:

Fortugno Carmelo¹,Galea Eulalia¹,Cantaffa Renato¹,Gigliotti Francesco¹,Fabiano Rachele Lucia¹,Talarico Valentina²,Raiola Giuseppe²,Galati Maria Concetta¹

Affiliation:

1. Department of Pediatric Onco-Hematology, Pugliese Ciaccio Hospital, Catanzaro, Italy

2. Department of Pediatrics, Pugliese Ciaccio Hospital, Catanzaro, Italy

Publisher

Informa UK Limited

Subject

Oncology,Hematology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/08880018.2020.1829219

Reference15 articles.

1. Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis

2. Piezo1 ion channel pore properties are dictated by C-terminal region

3. Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels

4. Piezo1 plays a role in erythrocyte volume homeostasis

5. The hereditary stomatocytoses: genetic disorders of the red cell membrane permeability to monovalent cations

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Cytoskeletal protein SPTA1 mediating the decrease in erectile function induced by high‐fat diet via Hippo signaling pathway;Andrology;2022-11-25

2. Sex-specific genetic modifiers identified susceptibility of cold stored red blood cells to osmotic hemolysis;BMC Genomics;2022-03-23

3. Multiple-ancestry genome-wide association study identifies 27 loci associated with measures of hemolysis following blood storage;Journal of Clinical Investigation;2021-07-01