The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis
Open accessAbstract
Significance: Stormorken syndrome is a rare autosomal-dominant genetic condition characterized by congenital miosis, bleeding diathesis, thrombocytopenia, and proximal muscle weakness. Other manifestations include functional or anatomical asplenia, ichthyosis, headaches, and dyslexia. A milder form of Stormorken syndrome is associated with muscle weakness and congenital miosis, but without hematologic abnormalities. Here we identify the gene mutations responsible for these syndromes and show that both conditions are caused by the hyperactivation of the Ca 2+ release-activated Ca 2+ (CRAC) channel. These findings contrast the pathologies associated with loss or diminished function of the CRAC channel, provide new molecular insights of the function of the CRAC channel, and suggest new approaches to combat these conditions by blocking CRAC channel activity.
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Citations
Cites
Store-Operated Calcium Channels
Parekh, A. B., & Putney, J. W. (2005) · Physiological Reviews · doi:10.1152/physrev.00057.2003 · Cited by 2,089
Cited by
Store-Operated Calcium Channels
Prakriya, M., & Lewis, R. S. (2015) · Physiological Reviews · doi:10.1152/physrev.00020.2014 · Cited by 1,239
Diseases caused by mutations in ORAI1 and STIM1
Lacruz, R. S., & Feske, S. (2015) · Annals of the New York Academy of Sciences · doi:10.1111/nyas.12938 · Cited by 443
A calcium/cAMP signaling loop at the ORAI1 mouth drives channel inactivation to shape NFAT induction
Zhang, X., Pathak, T., Yoast, R., Emrich, S., Xin, P., Nwokonko, R. M., Johnson, M., Wu, S., Delierneux, C., Gueguinou, M., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-09593-0 · Cited by 96
Maggi, L., Bonanno, S., Altamura, C., & Desaphy, J.-F. (2021) · Cells · doi:10.3390/cells10061521 · Cited by 51
Metadata
- Authors
- Nesin, V., Wiley, G., Kousi, M., Ong, E.-C., Lehmann, T., Nicholl, D. J., Suri, M., Shahrizaila, N., Katsanis, N., Gaffney, P. M., Wierenga, K. J., & Tsiokas, L.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2014-03-03
- Volume
- 111
- Issue
- 11
- Pages
- 4197-4202
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2156406395
- Cited by
- 238
- References
- 1
- FWCI
- 12.77
- Type
- journal article
- Language
- en
- Open access
- bronze
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- The paper
- Nesin, V., Wiley, G., Kousi, M., Ong, E.-C., Lehmann, T., Nicholl, D. J., Suri, M., Shahrizaila, N., Katsanis, N., Gaffney, P. M., Wierenga, K. J., & Tsiokas, L. (2014). Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.1312520111
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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.
