The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Human Hypertension Caused by Mutations in WNK Kinases
Abstract
Hypertension is a major public health problem of largely unknown cause. Here, we identify two genes causing pseudohypoaldosteronism type II, a Mendelian trait featuring hypertension, increased renal salt reabsorption, and impaired K + and H + excretion. Both genes encode members of the WNK family of serine-threonine kinases. Disease-causing mutations in WNK1 are large intronic deletions that increase WNK1 expression. The mutations in WNK4 are missense, which cluster in a short, highly conserved segment of the encoded protein. Both proteins localize to the distal nephron, a kidney segment involved in salt, K + , and pH homeostasis. WNK1 is cytoplasmic, whereas WNK4 localizes to tight junctions. The WNK kinases and their associated signaling pathway(s) may offer new targets for the development of antihypertensive drugs.
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Cites
Predicting coiled coils from protein sequences.
Lupas, A., Van Dyke, M., & Stock, J. (1991) · Science · doi:10.1126/science.252.5009.1162 · Cited by 3,953
Molecular Mechanisms of Human Hypertension
Lifton, R. P., Gharavi, A. G., & Geller, D. S. (2001) · Cell · doi:10.1016/s0092-8674(01)00241-0 · Cited by 1,686
Self-citation
Cited by
Flynn, J. T., Kaelber, D. C., Baker-Smith, C. M., Blowey, D., Carroll, A. E., Daniels, S. R., de Ferranti, S. D., Dionne, J. M., Falkner, B., Flinn, S. K., et al. (2017) · Pediatrics · doi:10.1542/peds.2017-1904 · Cited by 3,651
Inwardly Rectifying Potassium Channels: Their Structure, Function, and Physiological Roles
Hibino, H., Inanobe, A., Furutani, K., Murakami, S., Findlay, I., & Kurachi, Y. (2010) · Physiological Reviews · doi:10.1152/physrev.00021.2009 · Cited by 1,539
Physiology of cell volume regulation in vertebrates
Hoffmann, E. K., Lambert, I. H., & Pedersen, S. F. (2009) · Physiological Reviews · doi:10.1152/physrev.00037.2007 · Cited by 1,441
Crosstalk of tight junction components with signaling pathways
González-Mariscal, L., Tapia, R., & Chamorro, D. (2008) · Biochimica et Biophysica Acta (BBA) - Biomembranes · doi:10.1016/j.bbamem.2007.08.018 · Cited by 759
Vitari, A. C., Deak, M., Morrice, N. A., & Alessi, D. R. (2005) · Biochemical Journal · doi:10.1042/bj20051180 · Cited by 503
Metadata
- Authors
- Wilson, F. H., Disse-Nicodème, S., Choate, K. A., Ishikawa, K., Nelson-Williams, C., Desitter, I., Gunel, M., Milford, D. V., Lipkin, G. W., Achard, J.-M., Feely, M. P., Dussol, B., Berland, Y., Unwin, R. J., Mayan, H., Simon, D. B., Farfel, Z., Jeunemaitre, X., & Lifton, R. P.
- Venue
- Science
- Published
- 2001-08-10
- Volume
- 293
- Issue
- 5532
- Pages
- 1107-1112
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2142766228
- Cited by
- 1,487
- References
- 2
- FWCI
- 14.87
- Type
- journal article
- Language
- en
- Open access
- closed
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- Wilson, F. H., Disse-Nicodème, S., Choate, K. A., Ishikawa, K., Nelson-Williams, C., Desitter, I., Gunel, M., Milford, D. V., Lipkin, G. W., Achard, J.-M., Feely, M. P., Dussol, B., Berland, Y., Unwin, R. J., Mayan, H., Simon, D. B., Farfel, Z., Jeunemaitre, X., & Lifton, R. P. (2001). Human Hypertension Caused by Mutations in WNK Kinases. Science. https://doi.org/10.1126/science.1062844
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