The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Drug export activity of the human canalicular multispecific organic anion transporter in polarized kidney MDCK cells expressing cMOAT (MRP2) cDNA.
Open accessAbstract
Apert syndrome, associated with fibroblast growth factor receptor (FGFR) 2 mutations, is characterized by premature fusion of cranial sutures. We analyzed proliferation and differentiation of calvaria cells derived from Apert infants and fetuses with FGFR-2 mutations. Histological analysis revealed premature ossification, increased extent of subperiosteal bone formation, and alkaline phosphatase- positive preosteoblastic cells in Apert fetal calvaria compared with age-matched controls. Preosteoblastic calvaria cells isolated from Apert infants and fetuses showed normal cell growth in basal conditions or in response to exogenous FGF-2. In contrast, the number of alkaline phosphatase- positive calvaria cells was fourfold higher than normal in mutant fetal calvaria cells with the most frequent Apert FGFR-2 mutation (Ser252Trp), suggesting increased maturation rate of cells in the osteoblastic lineage. Biochemical and Northern blot analyses also showed that the expression of alkaline phosphatase and type 1 collagen were 2-10-fold greater than normal in mutant fetal calvaria cells. The in vitro production of mineralized matrix formed by immortalized mutant fetal calvaria cells cultured in aggregates was also increased markedly compared with control immortalized fetal calvaria cells. The results show that Apert FGFR-2 mutations lead to an increase in the number of precursor cells that enter the osteogenic pathway, leading ultimately to increased subperiosteal bone matrix formation and premature calvaria ossification during fetal development, which establishes a connection between the altered genotype and cellular phenotype in Apert syndromic craniosynostosis.
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Cites
Overexpression of a Transporter Gene in a Multidrug-Resistant Human Lung Cancer Cell Line
Cole, S. P. C., Bhardwaj, G., Gerlach, J. H., Mackie, J. E., Grant, C. E., Almquist, K. C., Stewart, A. J., Kurz, E. U., Duncan, A. M. V., & Deeley, R. G. (1992) · Science · doi:10.1126/science.1360704 · Cited by 3,037
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
Muenke, M., Schell, U., Hehr, A., Robin, N. H., Losken, H. W., Schinzel, A., Pulleyn, L. J., Rutland, P., Reardon, W., Malcolm, S., et al. (1994) · Nature Genetics · doi:10.1038/ng1194-269 · Cited by 614
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Self-citationKast, H. R., Goodwin, B., Tarr, P. T., Jones, S. A., Anisfeld, A. M., Stoltz, C. M., Tontonoz, P., Kliewer, S., Willson, T. M., & Edwards, P. A. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m109326200 · Cited by 916
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Reid, G., Wielinga, P., Zelcer, N., van der Heijden, I., Kuil, A., de Haas, M., Wijnholds, J., & Borst, P. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1033060100 · Cited by 463
Self-citationA Genetic-Pathophysiological Framework for Craniosynostosis
Twigg, S. R. F., & Wilkie, A. O. M. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.07.006 · Cited by 276
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Denk, G. U., Soroka, C. J., Takeyama, Y., Chen, W.-S., Schuetz, J. D., & Boyer, J. L. (2004) · Journal of Hepatology · doi:10.1016/j.jhep.2003.12.001 · Cited by 147
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Early onset of craniosynostosis in an Apert mouse model reveals critical features of this pathology
Holmes, G., Rothschild, G., Roy, U. B., Deng, C.-X., Mansukhani, A., & Basilico, C. (2009) · Developmental Biology · doi:10.1016/j.ydbio.2009.01.026 · Cited by 104
Understanding the Molecular Basis of Apert Syndrome
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Metadata
- Authors
- Evers, R., Kool, M., van Deemter, L., Janssen, H., Calafat, J., Oomen, L. C., Paulusma, C. C., Oude Elferink, R. P., Baas, F., Schinkel, A. H., & Borst, P.
- Venue
- Journal of Clinical Investigation
- Published
- 1998-04-01
- Volume
- 101
- Issue
- 7
- Pages
- 1310-1319
- ISSN
- 0021-9738 (ISSN-L)
- OpenAlex
- W2148917087
- Cited by
- 620
- References
- 2
- FWCI
- 20.68
- Type
- journal article
- Language
- en
- Open access
- green
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