Lacrimo-Auriculo-Dento-Digital Syndrome Is Caused by Reduced Activity of the Fibroblast Growth Factor 10 (FGF10)-FGF Receptor 2 Signaling Pathway
Author:
Affiliation:
1. Department of Pharmacology, Yale University School of Medicine, 333 Cedar Street, New Haven, Connecticut 06520
2. Center for Molecular Medicine Cologne
3. Institute of Human Genetics, University of Cologne, Cologne, Germany
Abstract
Publisher
American Society for Microbiology
Subject
Cell Biology,Molecular Biology
Link
https://journals.asm.org/doi/pdf/10.1128/MCB.00544-07
Reference40 articles.
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2. Bamforth, J. S., and P. Kaurah. 1992. Lacrimo-auriculo-dento-digital syndrome: evidence for lower limb involvement and severe congenital renal anomalies. Am. J. Med. Genet.43:932-937.
3. Emoto, H., S. Tagashira, M. G. Mattei, M. Yamasaki, G. Hashimoto, T. Katsumata, T. Negoro, M. Nakatsuka, D. Birnbaum, F. Coulier, and N. Itoh. 1997. Structure and expression of human fibroblast growth factor-10. J. Biol. Chem.272:23191-23194.
4. Entesarian, M., J. Dahlqvist, V. Shashi, C. S. Stanley, B. Falahat, W. Reardon, and N. Dahl. 2007. FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG). Eur. J. Hum. Genet.15:379-382.
5. Entesarian, M., H. Matsson, J. Klar, B. Bergendal, L. Olson, R. Arakaki, Y. Hayashi, H. Ohuchi, B. Falahat, A. I. Bolstad, R. Jonsson, M. Wahren-Herlenius, and N. Dahl. 2005. Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands. Nat. Genet.37:125-127.
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