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Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues.
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The neurofibromatosis (NF1) gene shows significant homology to mammalian GAP and is an important regulator of the ras signal transduction pathway. To study the function of NF1 in normal development and to try and develop a mouse model of NF1 disease, we have used gene targeting in ES cells to generate mice carrying a null mutation at the mouse Nf1 locus. Although heterozygous mutant mice, aged up to 10 months, likely attributable to a severe malformation of the heart. Interestingly, mutant embryos also display hyperplasia of neural crest-derived sympathetic ganglia. These results identify new roles for NF1 in development and indicate that some of the abnormal growth phenomena observed in NF1 patients can be recapitulated in neurofibromin-deficient mice.
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“Consistent with this, Nf1 deficiency induces a myeloproliferative disorder in murine models (8,9).”
From PU.1, Interferon Regulatory Factor (IRF) 2, and the Interferon Consensus Sequence-binding Protein (ICSBP/IRF8) Cooperate to Activate NF1 Transcription in Differentiating Myeloid Cells (2007) · cites this paper as [8]
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Pinson, S., & Wolkenstein, P. (2004) · La Revue de Médecine Interne · doi:10.1016/j.revmed.2004.06.011 · Cited by 64
Largaespada, D. A., Shaughnessy, J. D., Jenkins, N. A., & Copeland, N. G. (1995) · Journal of Virology · doi:10.1128/jvi.69.8.5095-5102.1995 · Cited by 64
Self-citationMayes, D. A., Rizvi, T. A., Titus, H. E., Oberst, R., Ciraolo, G. M., Vorhees, C. V., Robinson, A. P., Miller, S. D., Cancelas, J. A., Stemmer-Rachamimov, A. O., et al. (2013) · Cell Reports · doi:10.1016/j.celrep.2013.08.011 · Cited by 62
Self-citationNF1 deficiency correlates with estrogen receptor signaling and diminished survival in breast cancer
Dischinger, P. S., Tovar, E. A., Essenburg, C. J., Madaj, Z., Gardner, E., Callaghan, M. E., Turner, A. N., Challa, A. K., Kempston, T., Eagleson, B., et al. (2018) · npj Breast Cancer · doi:10.1038/s41523-018-0080-8 · Cited by 63
Gutmann, D. H., Geist, R. T., Rose, K., & Wright, D. E. (1995) · Developmental Dynamics · doi:10.1002/aja.1002020309 · Cited by 63
Metadata
- Authors
- Brannan, C. I., Perkins, A. S., Vogel, K. S., Ratner, N., Nordlund, M. L., Reid, S. W., Buchberg, A. M., Jenkins, N. A., Parada, L. F., & Copeland, N. G.
- Affiliations
- Cold Spring Harbor Laboratory (US)
- Venue
- Genes & Development
- Publisher
- Cold Spring Harbor Laboratory
- Published
- 1994-05-01
- Volume
- 8
- Issue
- 9
- Pages
- 1019-1029
- ISSN
- 0890-9369 (ISSN-L)
- 1549-5477
- OpenAlex
- W2159562139
- Cited by
- 641
- References
- 42
- Citations by year
- 2026: 2 · 2025: 9 · 2024: 17 · 2023: 10 · 2022: 10 · 2021: 19 · 2020: 14 · 2019: 9 · 2018: 16 · 2017: 11 · 2016: 17 · 2015: 14 · 2014: 17 · 2013: 23 · 2012: 33
- Type
- posted content
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Genes & Development (publishedVersion)
- PubMed (publishedVersion)
- Funders
- U.S. Department of Health and Human Services
- James S. McDonnell Foundation
- National Institutes of Health (n01co074101-034)
- National Cancer Institute (N01 CO-74101)
- National Institute of Neurological Disorders and Stroke (NS-28840, R01NS028840)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Neurofibromatosis and Schwannoma Cases
- Health Sciences › Medicine › Oncology › Neuroblastoma Research and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Developmental Biology and Gene Regulation
- Keywords
- neurofibromatosis type 1, NF1 gene, neurofibromin, null mutations, cardiac anomalies, neural crest, Ras signaling, developmental abnormalities, mouse model
- MeSH terms
- Alleles, Animals, Base Sequence, Female, Embryonic and Fetal Development, Fetal Heart, Ganglia, Sympathetic, Heart Defects, Congenital, Homozygote, Kidney, Liver, Male, Mice, Inbred C57BL, Mice, Transgenic, Mitotic Index, Molecular Sequence Data, Mutation, Neural Crest, Genes, Neurofibromatosis 1, Gene Targeting, Muscle, Skeletal, Mice
About these checks
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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