Research progress of mouse models in craniosynostosis
10.3760/cma.j.cn114453-20231031-00172
- VernacularTitle:颅缝早闭相关小鼠模型研究进展
- Author:
Yingying YUE
1
;
Xiaolei JIN
Author Information
1. 中国医学科学院北京协和医学院整形外科医院颅颌面四科，北京 100144
- Keywords:
Craniosynostoses;
Genetic variation;
Gene expression regulation;
Mouse model
- From:
Chinese Journal of Plastic Surgery
2023;39(12):319-325
- CountryChina
- Language:Chinese
-
Abstract:
Craniosynostosis is a common congenital craniofacial deformity in which bony fusion time of cranial sutures is earlier than normal age. It is of great social significance for the study and prevention of the genetic mechanism of craniosynostosis. The identification of human mutant genes such as FGFR1, FGFR2, FGFR3, TWIST1, MSX2, RAB, ERF related to craniosynostosis has stimulated the generation of a large number of recombinant animal models with similar functional acquisition or loss mutations to simulate various manifestations of craniosynostosis. The similarity of craniofacial development and molecular pathways between mice and humans makes them a good animal model for studying craniosynostosis. This article reviews the research progress of mouse models related to syndromic, non- syndromic craniosynostosis and craniosynostosis with non-human gene mutations, in order to provide a more comprehensive and systematic understanding of the genetic pathogenesis and treatment of this disease.
