Lee, KKL;
Stanier, P;
Pauws, E;
(2018)
Mouse Models of Syndromic Craniosynostosis.
Molecular Syndromology
, 10
pp. 58-73.
10.1159/000491004.
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Abstract
Craniosynostosis is a common craniofacial birth defect. This review focusses on the advances that have been achieved through studying the pathogenesis of craniosynostosis using mouse models. Classic methods of gene targeting which generate individual gene knockout models have successfully identified numerous genes required for normal development of the skull bones and sutures. However, the study of syndromic craniosynostosis has largely benefited from the production of knockin models that precisely mimic human mutations. These have allowed the detailed investigation of downstream events at the cellular and molecular level following otherwise unpredictable gain-of-function effects. This has greatly enhanced our understanding of the pathogenesis of this disease and has the potential to translate into improvement of the clinical management of this condition in the future.
| Type: | Article |
|---|---|
| Title: | Mouse Models of Syndromic Craniosynostosis |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1159/000491004 |
| Publisher version: | https://doi.org/10.1159/000491004 |
| Language: | English |
| Additional information: | © 2018 S. Karger AG, Basel. This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Biology and Cancer Dept |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10054191 |
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