Article ; Online: Identification of potential molecular mechanism related to craniofacial dysmorphism caused by FOXI3 deficiency.
Molecular genetics & genomic medicine
2024 Volume 12, Issue 3, Page(s) e2411
Abstract: Background: Hemifacial macrosomia (HFM, OMIM 164210) is a complex and highly heterogeneous disease. FORKHEAD BOX I3 (FOXI3) is a susceptibility gene for HFM, and mice with loss of function of Foxi3 did exhibit a phenotype similar to craniofacial ... ...
Abstract | Background: Hemifacial macrosomia (HFM, OMIM 164210) is a complex and highly heterogeneous disease. FORKHEAD BOX I3 (FOXI3) is a susceptibility gene for HFM, and mice with loss of function of Foxi3 did exhibit a phenotype similar to craniofacial dysmorphism. However, the specific pathogenesis of HFM caused by FOXI3 deficiency remains unclear till now. Method: In this study, we first constructed a Foxi3 deficiency (Foxi3 Results: By observing the phenotype of Foxi3 Conclusion: The craniofacial dysmorphism caused by the deficiency of Foxi3 may be related to the expression of Akt2 and PI3K-Akt signaling pathway. This study laid a foundation for understanding the function of FOXI3 and the pathogenesis and treatment of related craniofacial dysmorphism caused by FOXI3 dysfunction. |
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MeSH term(s) | Animals ; Mice ; Computational Biology ; Craniofacial Abnormalities/genetics ; Musculoskeletal Abnormalities ; Phosphatidylinositol 3-Kinases ; Proto-Oncogene Proteins c-akt/genetics |
Chemical Substances | Phosphatidylinositol 3-Kinases (EC 2.7.1.-) ; Proto-Oncogene Proteins c-akt (EC 2.7.11.1) ; Foxi1 protein, mouse |
Language | English |
Publishing date | 2024-03-04 |
Publishing country | United States |
Document type | Journal Article |
ZDB-ID | 2734884-2 |
ISSN | 2324-9269 ; 2324-9269 |
ISSN (online) | 2324-9269 |
ISSN | 2324-9269 |
DOI | 10.1002/mgg3.2411 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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