The DOI matches its Crossref record; 58 of the 58 references it cites were found in a registry or an index.
A Gain-of-Function Mutation in TRPA1 Causes Familial Episodic Pain Syndrome
Open accessAbstract
Human monogenic pain syndromes have provided important insights into the molecular mechanisms that underlie normal and pathological pain states. We describe an autosomal-dominant familial episodic pain syndrome characterized by episodes of debilitating upper body pain, triggered by fasting and physical stress. Linkage and haplotype analysis mapped this phenotype to a 25 cM region on chromosome 8q12-8q13. Candidate gene sequencing identified a point mutation (N855S) in the S4 transmembrane segment of TRPA1, a key sensor for environmental irritants. The mutant channel showed a normal pharmacological profile but altered biophysical properties, with a 5-fold increase in inward current on activation at normal resting potentials. Quantitative sensory testing demonstrated normal baseline sensory thresholds but an enhanced secondary hyperalgesia to punctate stimuli on treatment with mustard oil. TRPA1 antagonists inhibit the mutant channel, promising a useful therapy for this disorder. Our findings provide evidence that variation in the TRPA1 gene can alter pain perception in humans.
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Cites
Strategies for multilocus linkage analysis in humans.
Lathrop, G. M., Lalouel, J. M., Julier, C., & Ott, J. (1984) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.81.11.3443 · Cited by 2,559
ANKTM1, a TRP-like Channel Expressed in Nociceptive Neurons, Is Activated by Cold Temperatures
Story, G. M., Peier, A. M., Reeve, A. J., Eid, S. R., Mosbacher, J., Hricik, T. R., Earley, T. J., Hergarden, A. C., Andersson, D. A., Hwang, S. W., et al. (2003) · Cell · doi:10.1016/s0092-8674(03)00158-2 · Cited by 2,486
TRPA1 Mediates the Inflammatory Actions of Environmental Irritants and Proalgesic Agents
Bautista, D. M., Jordt, S.-E., Nikai, T., Tsuruda, P. R., Read, A. J., Poblete, J., Yamoah, E. N., Basbaum, A. I., & Julius, D. (2006) · Cell · doi:10.1016/j.cell.2006.02.023 · Cited by 1,932
Mustard oils and cannabinoids excite sensory nerve fibres through the TRP channel ANKTM1
Jordt, S.-E., Bautista, D. M., Chuang, H.-H., McKemy, D. D., Zygmunt, P. M., Högestätt, E. D., Meng, I. D., & Julius, D. (2004) · Nature · doi:10.1038/nature02282 · Cited by 1,899
Noxious Cold Ion Channel TRPA1 Is Activated by Pungent Compounds and Bradykinin
Bandell, M., Story, G. M., Hwang, S. W., Viswanath, V., Eid, S. R., Petrus, M. J., Earley, T. J., & Patapoutian, A. (2004) · Neuron · doi:10.1016/s0896-6273(04)00150-3 · Cited by 1,827
An SCN9A channelopathy causes congenital inability to experience pain
Cox, J. J., Reimann, F., Nicholas, A. K., Thornton, G., Roberts, E., Springell, K., Karbani, G., Jafri, H., Mannan, J., Raashid, Y., et al. (2006) · Nature · doi:10.1038/nature05413 · Cited by 1,600
Self-citationEasy calculations of lod scores and genetic risks on small computers.
Lathrop, M. G., & Lalouel, J.-M. (1984) · Europe PMC (PubMed Central) · Cited by 1,526
Kwan, K. Y., Allchorne, A. J., Vollrath, M. A., Christensen, A. P., Zhang, D.-S., Woolf, C. J., & Corey, D. P. (2006) · Neuron · doi:10.1016/j.neuron.2006.03.042 · Cited by 1,267
Sobel, E. M., & Lange, K. L. (1996) · PubMed Central · Cited by 1,176
Noxious compounds activate TRPA1 ion channels through covalent modification of cysteines
Macpherson, L. J., Dubin, A. E., Evans, M. J., Marr, F., Schultz, P. G., Cravatt, B. F., & Patapoutian, A. (2007) · Nature · doi:10.1038/nature05544 · Cited by 1,116
Cited by
TRPA1 is required for histamine-independent, Mas-related G protein–coupled receptor–mediated itch
Wilson, S. R., Gerhold, K. A., Bifolck-Fisher, A., Liu, Q., Patel, K. N., Dong, X., & Bautista, D. M. (2011) · Nature Neuroscience · doi:10.1038/nn.2789 · Cited by 599
Advances in TRP channel drug discovery: from target validation to clinical studies
Koivisto, A.-P., Belvisi, M. G., Gaudet, R., & Szallasi, A. (2022) · Nature Reviews Drug Discovery · doi:10.1038/s41573-021-00268-4 · Cited by 537
Transient receptor potential (TRP) channels: a clinical perspective
Kaneko, Y., & Szallasi, A. (2014) · British Journal of Pharmacology · doi:10.1111/bph.12414 · Cited by 370
Toward a Mechanism-Based Approach to Pain Diagnosis
Vardeh, D., Mannion, R. J., & Woolf, C. J. (2016) · The Journal of Pain · doi:10.1016/j.jpain.2016.03.001 · Cited by 319
Chen, J., Joshi, S. K., DiDomenico, S., Perner, R. J., Mikusa, J. P., Gauvin, D. M., Segreti, J. A., Han, P., Zhang, X.-F., Niforatos, W., et al. (2011) · Pain · doi:10.1016/j.pain.2011.01.049 · Cited by 276
Metadata
- Authors
- Kremeyer, B., Lopera, F., Cox, J. J., Momin, A., Rugiero, F., Marsh, S., Woods, C. G., Jones, N. G., Paterson, K. J., Fricker, F. R., Villegas, A., Acosta, N., Pineda-Trujillo, N. G., Ramírez, J. D., Zea, J., Burley, M.-W., Bedoya, G., Bennett, D. L. H., Wood, J. N., & Ruiz-Linares, A.
- Venue
- Neuron
- Publisher
- Elsevier BV
- Published
- 2010-06
- Volume
- 66
- Issue
- 5
- Pages
- 671-680
- ISSN
- 0896-6273 (ISSN-L)
- OpenAlex
- W1974213802
- Cited by
- 443
- References
- 58
- FWCI
- 16.38
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Kremeyer, B., Lopera, F., Cox, J. J., Momin, A., Rugiero, F., Marsh, S., Woods, C. G., Jones, N. G., Paterson, K. J., Fricker, F. R., Villegas, A., Acosta, N., Pineda-Trujillo, N. G., Ramírez, J. D., Zea, J., Burley, M.-W., Bedoya, G., Bennett, D. L. H., Wood, J. N., & Ruiz-Linares, A. (2010). A Gain-of-Function Mutation in TRPA1 Causes Familial Episodic Pain Syndrome. Neuron. https://doi.org/10.1016/j.neuron.2010.04.030
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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.
