The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1
Abstract
Key Points: Dehydrated hereditary stomatocytosis is characterized by abnormal RBC morphology but may involve pseudohyperkalemia and perinatal edema. This syndrome is associated with germline mutations in PIEZO1, encoding a transmembrane protein that induces mechanosensitive currents.
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Cites
A method and server for predicting damaging missense mutations.
Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010) · Nature Methods · doi:10.1038/nmeth0410-248 · Cited by 13,194
MutationTaster evaluates disease-causing potential of sequence alterations
Schwarz, J. M., Rödelsperger, C., Schuelke, M., & Seelow, D. (2010) · Nature Methods · doi:10.1038/nmeth0810-575 · Cited by 2,975
The Mechanosensitive Ion Channel Piezo1 Is Inhibited by the Peptide GsMTx4
Bae, C., Sachs, F., & Gottlieb, P. A. (2011) · Biochemistry · doi:10.1021/bi200770q · Cited by 566
Cited by
Structure of the mechanically activated ion channel Piezo1
Saotome, K., Murthy, S. E., Kefauver, J. M., Whitwam, T., Patapoutian, A., & Ward, A. B. (2018) · Nature · doi:10.1038/nature25453 · Cited by 649
Piezos thrive under pressure: mechanically activated ion channels in health and disease
Murthy, S. E., Dubin, A. E., & Patapoutian, A. (2017) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm.2017.92 · Cited by 582
Piezo Proteins: Regulators of Mechanosensation and Other Cellular Processes
Bagriantsev, S. N., Gracheva, E. O., & Gallagher, P. G. (2014) · Journal of Biological Chemistry · doi:10.1074/jbc.r114.612697 · Cited by 249
Force Sensing by Piezo Channels in Cardiovascular Health and Disease
Beech, D. J., & Kalli, A. C. (2019) · Arteriosclerosis, Thrombosis, and Vascular Biology · doi:10.1161/atvbaha.119.313348 · Cited by 242
Piezo1 ion channel pore properties are dictated by C-terminal region
Coste, B., Murthy, S. E., Mathur, J., Schmidt, M., Mechioukhi, Y., Delmas, P., & Patapoutian, A. (2015) · Nature Communications · doi:10.1038/ncomms8223 · Cited by 239
Metadata
- Authors
- Andolfo, I., Alper, S. L., De Franceschi, L., Auriemma, C., Russo, R., De Falco, L., Vallefuoco, F., Esposito, M. R., Vandorpe, D. H., Shmukler, B. E., Narayan, R., Montanaro, D., D’Armiento, M., Vetro, A., Limongelli, I., Zuffardi, O., Glader, B. E., Schrier, S. L., Brugnara, C., Stewart, G. W., Delaunay, J., & Iolascon, A.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2013-05-09
- Volume
- 121
- Issue
- 19
- Pages
- 3925-3935
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W2092526634
- Cited by
- 321
- References
- 3
- FWCI
- 13.47
- Type
- journal article
- Language
- en
- Open access
- closed
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- The paper
- Andolfo, I., Alper, S. L., De Franceschi, L., Auriemma, C., Russo, R., De Falco, L., Vallefuoco, F., Esposito, M. R., Vandorpe, D. H., Shmukler, B. E., Narayan, R., Montanaro, D., D’Armiento, M., Vetro, A., Limongelli, I., Zuffardi, O., Glader, B. E., Schrier, S. L., Brugnara, C., . . . Iolascon, A. (2013). Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. Blood. https://doi.org/10.1182/blood-2013-02-482489
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
