The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia
Open accessAbstract
Piezo1 ion channels are mediators of mechanotransduction in several cell types including the vascular endothelium, renal tubular cells and erythrocytes. Gain-of-function mutations in PIEZO1 cause an autosomal dominant haemolytic anaemia in humans called dehydrated hereditary stomatocytosis. However, the phenotypic consequence of PIEZO1 loss of function in humans has not previously been documented. Here we discover a novel role of this channel in the lymphatic system. Through whole-exome sequencing, we identify biallelic mutations in PIEZO1 (a splicing variant leading to early truncation and a non-synonymous missense variant) in a pair of siblings affected with persistent lymphoedema caused by congenital lymphatic dysplasia. Analysis of patients’ erythrocytes as well as studies in a heterologous system reveal greatly attenuated PIEZO1 function in affected alleles. Our results delineate a novel clinical category of PIEZO1-associated hereditary lymphoedema.
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Fiji: an open-source platform for biological-image analysis
Schindelin, J., Arganda-Carreras, I., Frise, E., Kaynig, V., Longair, M., Pietzsch, T., Preibisch, S., Rueden, C., Saalfeld, S., Schmid, B., et al. (2012) · Nature Methods · doi:10.1038/nmeth.2019 · Cited by 66,890
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
Genome engineering using the CRISPR-Cas9 system
Ran, F. A., Hsu, P. D., Wright, J., Agarwala, V., Scott, D. A., & Zhang, F. (2013) · Nature Protocols · doi:10.1038/nprot.2013.143 · Cited by 11,133
Sabine, A., Agalarov, Y., Maby-El Hajjami, H., Jaquet, M., Hägerling, R., Pollmann, C., Bebber, D., Pfenniger, A., Miura, N., Dormond, O., et al. (2012) · Developmental Cell · doi:10.1016/j.devcel.2011.12.020 · Cited by 411
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
Self-citationStructure and mechanogating mechanism of the Piezo1 channel
Zhao, Q., Zhou, H., Chi, S., Wang, Y., Wang, J., Geng, J., Wu, K., Liu, W., Zhang, T., Dong, M.-Q., et al. (2018) · Nature · doi:10.1038/nature25743 · Cited by 628
Endothelial cation channel PIEZO1 controls blood pressure by mediating flow-induced ATP release
Wang, S., Chennupati, R., Kaur, H., Iring, A., Wettschureck, N., & Offermanns, S. (2016) · Journal of Clinical Investigation · doi:10.1172/jci87343 · Cited by 616
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
Self-citationDavis, M. J., Earley, S., Li, Y.-S., & Chien, S. (2023) · Physiological Reviews · doi:10.1152/physrev.00053.2021 · Cited by 273
Metadata
- Authors
- Lukacs, V., Mathur, J., Mao, R., Bayrak-Toydemir, P., Procter, M., Cahalan, S. M., Kim, H. J., Bandell, M., Longo, N., Day, R. W., Stevenson, D. A., Patapoutian, A., & Krock, B. L.
- Venue
- Nature Communications
- Published
- 2015-09-21
- Volume
- 6
- Issue
- 1
- Pages
- 8329-8329
- ISSN
- 2041-1723 (ISSN-L)
- OpenAlex
- W2256087259
- Cited by
- 304
- References
- 4
- FWCI
- 8.06
- Type
- journal article
- Language
- en
- Open access
- gold
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