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A germline mutation in KIT in familial diffuse cutaneous mastocytosis
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“The cause of mastocytosis is mutational hyperactivation of KIT, the tyrosine kinase receptor for stem cell factor, which mast cell development and survival depend on. These mutations are typically somatic, and germline mutations are very rare. 149 , 150 , 151 , 152 , 153 , 154 , 155”
From Mast cell ontogeny: From fetal development to life‐long health and disease (2023) · cites this paper as [151]
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Research works printed but not linked: 21
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Cited by
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Valent, P., Akin, C., Escribano, L., Födinger, M., Hartmann, K., Brockow, K., Castells, M., Sperr, W. R., Kluin‐Nelemans, H. C., Hamdy, N. A. T., et al. (2007) · European Journal of Clinical Investigation · doi:10.1111/j.1365-2362.2007.01807.x · Cited by 750
Bodemer, C., Hermine, O., Palmérini, F., Yang, Y., Grandpeix-Guyodo, C., Leventhal, P. S., Hadj-Rabia, S., Nasca, L., Georgin-Lavialle, S., Cohen-Akenine, A., et al. (2010) · Journal of Investigative Dermatology · doi:10.1038/jid.2009.281 · Cited by 397
Lyons, J. J., Sun, G., Stone, K. D., Nelson, C., Wisch, L., O'Brien, M., Jones, N., Lindsley, A., Komarow, H. D., Bai, Y., et al. (2014) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2013.11.039 · Cited by 136
Systemic mastocytosis in adults: 2023 update on diagnosis, risk stratification and management
Pardanani, A. (2023) · American Journal of Hematology · doi:10.1002/ajh.26962 · Cited by 132
Mast cell ontogeny: From fetal development to life‐long health and disease
Chia, S. L., Kapoor, S., Carvalho, C., Bajénoff, M., & Gentek, R. (2023) · Immunological Reviews · doi:10.1111/imr.13191 · Cited by 60
Metadata
- Authors
- Tang, X., Boxer, M., Drummond, A., Ogston, P., Hodgins, M., & Burden, A. D.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2004-06
- Volume
- 41
- Issue
- 6
- Pages
- e88-e88
- ISSN
- 0022-2593
- 1468-6244
- Cited by
- 81
- References
- 0
- Language
- en
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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.
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How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: A germline mutation in KIT in familial diffuse cutaneous mastocytosis. https://app.cochat.ai/papers/10.1136/jmg.2003.015156
- The paper
- Tang, X., Boxer, M., Drummond, A., Ogston, P., Hodgins, M., & Burden, A. D. (2004). A germline mutation in KIT in familial diffuse cutaneous mastocytosis. Journal of Medical Genetics. https://doi.org/10.1136/jmg.2003.015156
