期刊
CELL STRUCTURE AND FUNCTION
卷 25, 期 2, 页码 85-96出版社
JAPAN SOC CELL BIOLOGY
DOI: 10.1247/csf.25.85
关键词
fibroblast growth factor receptors; craniosynostosis; short stature; skeletal dysplasia; acanthosis nigricans; deafness; Peters anomaly; cancer
类别
资金
- NIAMS NIH HHS [K08 AR02075] Funding Source: Medline
- NIDCR NIH HHS [R01 DE11441] Funding Source: Medline
In recent years the study of fibroblast growth factor receptors (FGFRs) in normal development and human genetic disorders has increased our understanding of some complex cellular processes. At least fifteen genetic disorders result fi om mutations within FGFR genes including skeletal dysplasias such as Apert syndrome and achondroplasia, In vitro experiments and the generation of animal models indicate that these mutations result in activation of the receptors and that FGFRs act as negative regulators of hone growth, FGFRs also play a role in wound healing and cancer. In this article, we review the expression of FGFRs in human development, the phenotypes resulting from FGFR mutations, and recent data identifying pathways downstream of the activated receptors.
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