The DOI matches its Crossref record; 33 of the 33 references it cites were found in a registry or an index.
Single missense mutation in the tyrosine kinasecatalytic domain of the RET protooncogene is associated with multiple endocrineneoplasia type 2B.
Open accessAbstract
Multiple endocrine neoplasia type 2B (MEN 2B) is a human cancer syndrome characterized by medullary thyroid carcinoma (MTC), pheochromocytomas, mucosal neuromas, ganglioneuromas of the intestinal tract, and skeletal and ophthalmic abnormalities. It appears both as an inherited disorder and as de novo disease. Sequence analysis of germ-line DNA from MEN 2B patients revealed the existence of the same point mutation in the RET protooncogene in 34 unrelated individuals. This sequence difference was not observed in 93 unaffected individuals, including the normal parents of 14 de novo MEN 2B patients. The mutation (ATG-->ACG) results in the replacement of methionine with threonine within the catalytic core region of the tyrosine kinase domain. We propose that this amino acid replacement effects substrate interactions and results in dominant oncogenic activity by the RET protein. Missense mutations in the extracellular ligand-binding domain of the RET protooncogene previously have been associated with two other disorders [MEN 2A and familial MTC (FMTC)] in which MTC is observed. MEN 2B represents the third form of heritable MTC known to be an allele of RET. Alterations in two different functional domains of the putative receptor protein tyrosine kinase are implicated in development of MTC.
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Cites
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Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC
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Cited by
Guidelines for the management of thyroid cancer
Perros, P., Boelaert, K., Colley, S., Evans, C., Evans, R. M., Gerrard BA, G., Gilbert, J., Harrison, B., Johnson, S. J., Giles, T. E., et al. (2014) · Clinical Endocrinology · doi:10.1111/cen.12515 · Cited by 1,372
Hirschsprung disease, associated syndromes and genetics: a review
Amiel, J., Sproat-Emison, E., Garcia-Barcelo, M., Lantieri, F., Burzynski, G., Borrego, S., Pelet, A., Arnold, S., Miao, X., Griseri, P., et al. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2007.053959 · Cited by 1,206
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
Wilkie, A. O. M., Slaney, S. F., Oldridge, M., Poole, M. D., Ashworth, G. J., Hockley, A. D., Hayward, R. D., David, D. J., Pulleyn, L. J., Rutland, P., et al. (1995) · Nature Genetics · doi:10.1038/ng0295-165 · Cited by 935
Tohyama, O., Matsui, J., Kodama, K., Hata-Sugi, N., Kimura, T., Okamoto, K., Minoshima, Y., Iwata, M., & Funahashi, Y. (2014) · Journal of Thyroid Research · doi:10.1155/2014/638747 · Cited by 475
Schlumberger, M. J., Elisei, R., Bastholt, L., Wirth, L. J., Martins, R. G., Locati, L. D., Jarzab, B., Pacini, F., Daumerie, C., Droz, J.-P., et al. (2009) · Journal of Clinical Oncology · doi:10.1200/jco.2008.18.7815 · Cited by 340
Metadata
- Authors
- Carlson, K. M., Dou, S., Chi, D., Scavarda, N., Toshima, K., Jackson, C. E., Wells, S. A., Goodfellow, P. J., & Donis-Keller, H.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1994-02-15
- Volume
- 91
- Issue
- 4
- Pages
- 1579-1583
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2031238707
- Cited by
- 600
- References
- 33
- FWCI
- 39.31
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: Single missense mutation in the tyrosine kinasecatalytic domain of the RET protooncogene is associated with multiple endocrineneoplasia type 2B. https://app.cochat.ai/papers/10.1073/pnas.91.4.1579
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- Carlson, K. M., Dou, S., Chi, D., Scavarda, N., Toshima, K., Jackson, C. E., Wells, S. A., Goodfellow, P. J., & Donis-Keller, H. (1994). Single missense mutation in the tyrosine kinasecatalytic domain of the RET protooncogene is associated with multiple endocrineneoplasia type 2B. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.91.4.1579
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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