RUNX2 mutation reduces osteogenic differentiation of dental follicle cells in cleidocranial dysplasia

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Osteogenic Differentiation of Dental Follicle Stem Cells

BACKGROUND Stem cells are defined as clonogenic cells capable of self-renewal and multi-lineage differentiation. A population of these cells has been identified in human Dental Follicle (DF). Dental Follicle Stem Cells (DFSCs) were found in pediatric unerupted wisdom teeth and have been shown to differentiate, under particular conditions, into various cell types of the mesenchymal tissues. AI...

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RUNX2 mutations in cleidocranial dysplasia.

The runt-related transcription factor 2 gene (RUNX2), which is also known as CBFA1, is a master regulatory gene in bone formation. Mutations in RUNX2 have been identified in cleidocranial dysplasia (CCD) patients. CCD is a rare autosomal dominant skeletal dysplasia that is characterized by delayed closure of cranial sutures, aplastic or hypoplastic clavicle formation, short stature, and dental ...

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Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia

Introduction: Pathogenic variants of RUNX2, a gene that encodes an osteoblast-specific transcription factor, have been shown as the cause of CCD, which is a rare hereditary skeletal and dental disorder with dominant mode of inheritance and a broad range of clinical variability. Due to the relative lack of clinical complications resulting in CCD, the medical diagnosis of this disorder is challen...

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The dexamethasone induced osteogenic differentiation of dental follicle cells.

Mesenchymal stem cells are excellent for in vitro studies about biological processes during the differentiation of osteogenic progenitor cells into mineralizing cells such as osteoblasts. Human dental follicle cells (DFCs) are dental mesenchymal stem cells and they can be isolated from third molar teeth. Because DFCs are the genuine progenitor cells of periodontal tissue cells, they have been u...

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A case of cleidocranial dysplasia with peculiar dental features: pathogenetic role of the RUNX2 mutation and long term follow-up.

This report deals with a case of Cleidocranial Dysplasia (CCD) associated to a rare mutation of the RUNX2 gene and a peculiar dental phenotype, namely no supernumerary teeth. The aim consists in evaluating the long-term follow-up after treatment and discussing the pathogenetic mechanism of the mutation. We have carried out a clinical evaluation after treatment and attempted to analyze the poten...

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ژورنال

عنوان ژورنال: Mutagenesis

سال: 2018

ISSN: 0267-8357,1464-3804

DOI: 10.1093/mutage/gey010