The DOI matches its Crossref record; 193 of the 193 references it cites were found in a registry or an index.
A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor
Open accessAbstract
Neurofibromatosis type 1 (NF1) is a common genetic disorder that predisposes affected individuals to tumours. The NF1 gene encodes a RAS GTPase-activating protein called neurofibromin and is one of several genes that (when mutant) affect RAS–MAPK signalling, causing related diseases collectively known as RASopathies. Several RASopathies, beyond NF1, are cancer predisposition syndromes. Somatic NF1 mutations also occur in 5–10% of human sporadic cancers and may contribute to resistance to therapy. To highlight areas for investigation in RASopathies and sporadic tumours with NF1 mutations, we summarize current knowledge of NF1 disease, the NF1 gene and neurofibromin, neurofibromin signalling pathways and recent developments in NF1 therapeutics.
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Metadata
- Authors
- Ratner, N., & Miller, S. J.
- Venue
- Nature Reviews Cancer
- Published
- 2015-04-16
- Volume
- 15
- Issue
- 5
- Pages
- 290-301
- ISSN
- 1474-175X (ISSN-L)
- 1474-1768
- OpenAlex
- W2010105281
- Cited by
- 493
- References
- 193
- FWCI
- 7.80
- Type
- journal article
- Language
- en
- Open access
- green
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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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