دورية أكاديمية
Micrognathia in mouse models of ciliopathies.
| العنوان: | Micrognathia in mouse models of ciliopathies. |
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| المؤلفون: | Adel Al-Lami H; Department of Craniofacial Development and Stem Cell Biology, King's College London Dental Institute, Guy's Hospital, London SE1 9RT, U.K., Barrell WB; Department of Craniofacial Development and Stem Cell Biology, King's College London Dental Institute, Guy's Hospital, London SE1 9RT, U.K., Liu KJ; Department of Craniofacial Development and Stem Cell Biology, King's College London Dental Institute, Guy's Hospital, London SE1 9RT, U.K. |
| المصدر: | Biochemical Society transactions [Biochem Soc Trans] 2016 Dec 15; Vol. 44 (6), pp. 1753-1759. |
| نوع المنشور: | Journal Article; Review; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Portland Press On The Behalf Of The Biochemical Society Country of Publication: England NLM ID: 7506897 Publication Model: Print Cited Medium: Internet ISSN: 1470-8752 (Electronic) Linking ISSN: 03005127 NLM ISO Abbreviation: Biochem Soc Trans Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: London : Portland Press On The Behalf Of The Biochemical Society |
| مواضيع طبية MeSH: | Disease Models, Animal* , Mutation*, Ciliopathies/*genetics , Micrognathism/*genetics, Animals ; Cilia/metabolism ; Ciliopathies/metabolism ; Humans ; Mandible/embryology ; Mandible/metabolism ; Mice ; Micrognathism/metabolism ; Proteins/genetics ; Proteins/metabolism |
| مستخلص: | Defects in the development of the mandible can lead to micrognathia, or small jaw, which manifests in ciliopathic conditions, such as orofaciodigital syndrome, Meckel-Gruber syndrome, and Bardet-Biedl syndrome. Although micrognathia occurs frequently in human and mouse ciliopathies, it has been difficult to pinpoint the underlying cellular causes. In this mini-review, we shed light on the tissue-specific contributions to ciliary dysfunction in the development of the mandible. First, we outline the steps involved in setting up the jaw primordium and subsequent steps in the outgrowth of the mandibular skeleton. We then determine the critical tissue interactions using mice carrying a conditional mutation in the cilia gene Ofd1 Our studies highlight the usefulness of the Ofd1 mouse model and illustrate long-term possibilities for understanding the cellular and biochemical events underlying micrognathia. (© 2016 The Author(s); published by Portland Press Limited on behalf of the Biochemical Society.) |
| معلومات مُعتمدة: | BB/I021922/1 United Kingdom Biotechnology and Biological Sciences Research Council |
| فهرسة مساهمة: | Keywords: Hedgehog; cilia; ciliopathy; craniofacial; micrognathia; neural crest cells |
| المشرفين على المادة: | 0 (OFD1 protein, mouse) 0 (Proteins) |
| تواريخ الأحداث: | Date Created: 20161204 Date Completed: 20170721 Latest Revision: 20171219 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1042/BST20160241 |
| PMID: | 27913686 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1470-8752 |
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| DOI: | 10.1042/BST20160241 |