The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels
Open accessAbstract
Dehydrated hereditary stomatocytosis is a genetic condition with defective red blood cell membrane properties that causes an imbalance in intracellular cation concentrations. Recently, two missense mutations in the mechanically activated PIEZO1 (FAM38A) ion channel were associated with dehydrated hereditary stomatocytosis. However, it is not known how these mutations affect PIEZO1 function. Here, by combining linkage analysis and whole-exome sequencing in a large pedigree and Sanger sequencing in two additional kindreds and 11 unrelated dehydrated hereditary stomatocytosis cases, we identify three novel missense mutations and one recurrent duplication in PIEZO1, demonstrating that it is the major gene for dehydrated hereditary stomatocytosis. All the dehydrated hereditary stomatocytosis-associated mutations locate at C-terminal half of PIEZO1. Remarkably, we find that all PIEZO1 mutations give rise to mechanically activated currents that inactivate more slowly than wild-type currents. This gain-of-function PIEZO1 phenotype provides insight that helps to explain the increased permeability of cations in red blood cells of dehydrated hereditary stomatocytosis patients. Our findings also suggest a new role for mechanotransduction in red blood cell biology and pathophysiology. Dehydrated hereditary stomatocytosis is a genetic condition in which the permeability of red blood cells to cations in increased. Albuisson and colleagues find that mutations in the mechanically-activated PIEZO1 ion channel are the major cause of the disease and result in more slowly inactivating currents.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Gnirke, A., Melnikov, A., Maguire, J., Rogov, P., LeProust, E. M., Brockman, W., Fennell, T., Giannoukos, G., Fisher, S., Russ, C., et al. (2009) · Nature Biotechnology · doi:10.1038/nbt.1523 · Cited by 1,433 · cited 1×
“For detailed explanations of the process, see Gnirke publication in Nature Biotechnology 36 .”
Red cell membrane: past, present, and future
Mohandas, N., & Gallagher, P. G. (2008) · Blood · doi:10.1182/blood-2008-07-161166 · Cited by 1,089
McHugh, B. J., Murdoch, A., Haslett, C., & Sethi, T. (2012) · PLoS ONE · doi:10.1371/journal.pone.0040346 · Cited by 169
Cited by
Mechanically Activated Ion Channels
Ranade, S. S., Syeda, R., & Patapoutian, A. (2015) · Neuron · doi:10.1016/j.neuron.2015.08.032 · Cited by 652
Self-citationStructure 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
Self-citationPiezos 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
Self-citationCox, C. D., Bae, C., Ziegler, L., Hartley, S., Nikolova-Krstevski, V., Rohde, P. R., Ng, C.-A., Sachs, F., Gottlieb, P. A., & Martinac, B. (2016) · Nature Communications · doi:10.1038/ncomms10366 · Cited by 528
Davis, M. J., Earley, S., Li, Y.-S., & Chien, S. (2023) · Physiological Reviews · doi:10.1152/physrev.00053.2021 · Cited by 273
Ma, S., Cahalan, S., LaMonte, G., Grubaugh, N. D., Zeng, W., Murthy, S. E., Paytas, E., Gamini, R., Lukacs, V., Whitwam, T., et al. (2018) · Cell · doi:10.1016/j.cell.2018.02.047 · Cited by 250
Self-citationPiezo 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
Self-citationIon Permeation and Mechanotransduction Mechanisms of Mechanosensitive Piezo Channels
Zhao, Q., Wu, K., Geng, J., Chi, S., Wang, Y., Zhi, P., Zhang, M., & Xiao, B. (2016) · Neuron · doi:10.1016/j.neuron.2016.01.046 · Cited by 233
A role of PIEZO1 in iron metabolism in mice and humans
Ma, S., Dubin, A. E., Zhang, Y., Mousavi, S. A. R., Wang, Y., Coombs, A. M., Loud, M., Andolfo, I., & Patapoutian, A. (2021) · Cell · doi:10.1016/j.cell.2021.01.024 · Cited by 232
Self-citationPiezo1 regulates mechanotransductive release of ATP from human RBCs
Cinar, E., Zhou, S., DeCourcey, J., Wang, Y., Waugh, R. E., & Wan, J. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1507309112 · Cited by 206
Voltage gating of mechanosensitive PIEZO channels
Moroni, M., Servin-Vences, M. R., Fleischer, R., Sánchez-Carranza, O., & Lewin, G. R. (2018) · Nature Communications · doi:10.1038/s41467-018-03502-7 · Cited by 200
Picard, V., Guitton, C., Thuret, I., Rose, C., Bendelac, L., Ghazal, K., Aguilar-Martinez, P., Badens, C., Barro, C., Bénéteau, C., et al. (2019) · Haematologica · doi:10.3324/haematol.2018.205328 · Cited by 128
Self-citationTang, H., Zeng, R., He, E., Zhang, I., Ding, C., & Zhang, A. (2022) · Journal of Medicinal Chemistry · doi:10.1021/acs.jmedchem.2c00085 · Cited by 120
Andolfo, I., Rosato, B. E., Manna, F., De Rosa, G., Marra, R., Gambale, A., Girelli, D., Russo, R., & Iolascon, A. (2020) · American Journal of Hematology · doi:10.1002/ajh.25683 · Cited by 61
Andolfo, I., Manna, F., De Rosa, G., Rosato, B. E., Gambale, A., Tomaiuolo, G., Carciati, A., Marra, R., De Franceschi, L., Iolascon, A., et al. (2018) · Haematologica · doi:10.3324/haematol.2017.180687 · Cited by 25
Verkest, C., Roettger, L., Zeitzschel, N., & Lechner, S. G. (2025) · Nature Communications · doi:10.1038/s41467-025-67610-x · Cited by 12
Rosato, B. E., D'Onofrio, V., Marra, R., Nostroso, A., Esposito, F. M., Iscaro, A., Lasorsa, V. A., Capasso, M., Iolascon, A., Russo, R., et al. (2025) · American Journal of Hematology · doi:10.1002/ajh.27523 · Cited by 12
Metadata
- Authors
- Albuisson, J., Murthy, S. E., Bandell, M., Coste, B., Louis-dit-Picard, H., Mathur, J., Fénéant-Thibault, M., Tertian, G., de Jaureguiberry, J.-P., Syfuss, P.-Y., Cahalan, S., Garçon, L., Toutain, F., Simon Rohrlich, P., Delaunay, J., Picard, V., Jeunemaitre, X., & Patapoutian, A.
- Venue
- Nature Communications
- Published
- 2013-05-21
- Volume
- 4
- Issue
- 1
- Pages
- 1884-1884
- ISSN
- 2041-1723 (ISSN-L)
- OpenAlex
- W1989979419
- Cited by
- 377
- References
- 3
- FWCI
- 11.63
- Type
- journal article
- Language
- en
- Open access
- bronze
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
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.
