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Medicine and Health Sciences

2017

Theses/Dissertations

University of Alabama at Birmingham

Cleidocranial dysplasia

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Osteoblast And Chondrocyte Specific Contribution Of The Runx2 Gene During The Development Of Cleidocranial Dysplasisa, Kayla Renee King Jan 2017

Osteoblast And Chondrocyte Specific Contribution Of The Runx2 Gene During The Development Of Cleidocranial Dysplasisa, Kayla Renee King

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The Runx2 transcription factor is essential for the differentiation of mesenchymal stem cells into functional chondrocytes and osteoblasts. In humans, the haploinsufficiency of the Runx2 gene is associated with cleidocranial dysplasia (CCD). The CCD is characterized by short stature, open sutures and fontanels in the skull, hypoplastic clavicles and supernumerary teeth. Skeletal elements disrupted in CCD patients are developed by intramembranous and/or endochondral ossification. However, the cell type specific roles of the Runx2 gene in the development of CCD-associated skeletal defects remain unknown. The main goal of this research was to define the specific role of the Runx2 gene in …