EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway

EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway

Abstract Background Mandibulofacial dysostosis with microcephaly (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, microcephaly, dysplastic ears, choanal atresia, and short stature. Heterozygous loss of function variants of EFTUD2 was previously rep...

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Bibliographic Details
Main Authors: Jing Wu, Yi Yang, You He, Qiang Li, Xu Wang, Chengjun Sun, Lishun Wang, Yu An, Feihong Luo
Format: Article
Language:English
Published: BMC 2019-12-01
Series:Human Genomics
Subjects:
EFTUD2
Mandibulofacial dysostosis with microcephaly
Developmental delay
TP53 signaling pathway
Zebrafish
Osteoblast
Online Access:https://doi.org/10.1186/s40246-019-0238-y

Internet

https://doi.org/10.1186/s40246-019-0238-y

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