The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Type 1 Neurofibromatosis Gene: Identification of a Large Transcript Disrupted in Three NF1 Patients
Abstract
Von Recklinghausen neurofibromatosis (NF1) is a common autosomal dominant disorder characterized by abnormalities in multiple tissues derived from the neural crest. No reliable cellular phenotypic marker has been identified, which has hampered direct efforts to identify the gene. The chromosome location of the NF1 gene has been previously mapped genetically to 17q11.2, and data from two NF1 patients with balanced translocations in this region have further narrowed the candidate interval. The use of chromosome jumping and yeast artificial chromosome technology has now led to the identification of a large (∼13 kilobases) ubiquitously expressed transcript (denoted NF1LT ) from this region that is definitely interrupted by one and most likely by both translocations. Previously identified candidate genes, which failed to show abnormalities in NF1 patients, are apparently located within introns of NF1LT , on the antisense strand. A new mutation patient with NF1 has been identified with a de novo 0.5-kilobase insertion in the NF1LT gene. These observations, together with the high spontaneous mutation rate of NF1 (which is consistent with a large locus), suggest that NF1LT represents the elusive NF1 gene.
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Cites
Identification of the Cystic Fibrosis Gene: Genetic Analysis
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A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma
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The p53 proto-oncogene can act as a suppressor of transformation
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Long-Term Follow-up of von Recklinghausen Neurofibromatosis
Sørensen, S. A., Mulvihill, J. J., & Nielsen, A. (1986) · New England Journal of Medicine · doi:10.1056/nejm198604173141603 · Cited by 617
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RAS oncogenes: the first 30 years
Malumbres, M., & Barbacid, M. (2003) · Nature Reviews Cancer · doi:10.1038/nrc1097 · Cited by 1,902
Botstein, D., & Risch, N. (2003) · Nature Genetics · doi:10.1038/ng1090 · Cited by 1,503
Ras oncogenes: split personalities
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The neurofibromatosis type 1 gene encodes a protein related to GAP
Xu, G., O'Connell, P., Viskochil, D., Cawthon, R., Robertson, M., Culver, M., Dunn, D., Stevens, J., Gesteland, R., White, R., et al. (1990) · Cell · doi:10.1016/0092-8674(90)90024-9 · Cited by 1,095
The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins.
Ballester, R., Marchuk, D., Boguski, M., Saulino, A., Letcher, R., Wigler, M., & Collins, F. (1990) · Cell · doi:10.1016/0092-8674(90)90151-4 · Cited by 847
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Metadata
- Authors
- Wallace, M. R., Marchuk, D. A., Andersen, L. B., Letcher, R., Odeh, H. M., Saulino, A. M., Fountain, J. W., Brereton, A., Nicholson, J., Mitchell, A. L., Brownstein, B. H., & Collins, F. S.
- Venue
- Science
- Published
- 1990-07-13
- Volume
- 249
- Issue
- 4965
- Pages
- 181-186
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2071893342
- Cited by
- 1,475
- References
- 6
- FWCI
- 99.27
- Type
- journal article
- Language
- en
- Open access
- closed
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- Wallace, M. R., Marchuk, D. A., Andersen, L. B., Letcher, R., Odeh, H. M., Saulino, A. M., Fountain, J. W., Brereton, A., Nicholson, J., Mitchell, A. L., Brownstein, B. H., & Collins, F. S. (1990). Type 1 Neurofibromatosis Gene: Identification of a Large Transcript Disrupted in Three NF1 Patients. Science. https://doi.org/10.1126/science.2134734
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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.
