Aim: To investigate the phenotypical expression of an identical mutation of the CBFA1/RUNX2 gene within a family with cleidocranial dysplasia.
Patients And Method: A five-member family underwent clinical examination. Two members, father and son, showed dissimilar symptoms of cleidocranial dysplasia. The two affected patients were examined for syndrome-typical symptoms, and the genotype was determined by molecular-genetic analysis.
Results: In both patients an identical missense mutation (G146R) in exon 2 of the CBFA1/RUNX2 gene was identified. In father and son the dental disturbances were similarly clearly expressed. However, the craniofacial skeleton of the son exhibited fewer dysostotic ossification features than that of the father. In the three clinically healthy family-members no mutation of the CBFA1/RUNX2 gene was found.
Conclusion: In two patients with cleidocranial dysplasia an identical missense mutation in the CBFA1/RUNX2 gene leading to a divergent craniofacial phenotype was determined. The results indicate marked variability in the phenotypical expression of CBFA1/RUNX2 mutations.
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http://dx.doi.org/10.1007/s00056-002-0123-4 | DOI Listing |
Biosci Rep
May 2019
Department of Plastic and Cosmetic Surgery, Nanfang Hospital, Southern Medical University, 1838 Guangzhou North Road, Guangzhou, Guangdong 510515, P. R. China
Transforming growth factor beta (TGF-β) can stimulate osteogenesis as a multifunctional protein. The present study was to explore if TGF-β can prevent denervation-induced reduction of bone formation. The 6-week-old male mice were treated with recombinant human TGF-β1 (rhTGF-β1).
View Article and Find Full Text PDFInt J Organ Transplant Med
January 2019
Protein Research Center, Shahid Beheshti University, GC, Tehran, Iran.
Background: The loss or dysfunction of bone tissue that observed after bone tumor resections and severe nonunion fractures afflicts 200 million people worldwide. Bone tissue engineering is a promising approach to repair osteoporotic fractures.
Objective: In this paper, polycaprolactone (PCL)/magnesium oxide (MgO)/graphene oxide (GO) nanofibrous scaffold was fabricated by electrospining method, and its biocompatibility and osteogenic differentiation of adipose-derived mesenchymal stem cells (MSCs) on this scaffold were evaluated and compared with pure PCL nanofibrous scaffold.
Curr Pharm Des
December 2017
Department of Orthopaedics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China, Jiefang Avenue, No.1277, 430022, China.
Peroxisome proliferator-activated receptor γ (PPARγ) has been considered as the master regulator for adipogenesis of bone marrow stromal cells (BMSCs). However, there are few reports regarding the effect of PPARγ gene silencing on osteogenic and adipogenic differentiation in rat BMSCs, and no reports about tissue targeting and conditional knockdown of PPARγ gene. In this study, we construct rat PPARγ gene shRNA Tet-on lentiviral vector, the lentiviral vector facilitated tetracycline (which has the characteristics of bone targeting)-inducible knockdown specific to PPARγ gene, and transfect it into BMSCs, the silencing effects induced by tetracycline is significant.
View Article and Find Full Text PDFCell Tissue Res
April 2016
Department of Genetic Engineering, College of Life Science and Graduate School of Biotechnology, Kyung Hee University, 1732 Deogyeong-daero, Giheung-gu, Yongin-si, Geonggi-do, South Korea, 446-701.
Although adipose-derived stem cells (ADSCs) have many advantageous traits compared with other postnatal stem cells, the consensus is that their differentiation potential must be improved to allow their practical utilization. During the in vitro expansion of human ADSCs (hADSCs), pre-treatment of fibroblast growth factor 2 (FGF2) not only induced an increase of approximately 44-fold in cell number at passage 7 but also augmented the differentiation potential of hADSCs. The effect of FGF2-induced cell preconditioning was evaluated by in vitro and in vivo osteogenesis after pre-treatment with various concentrations of FGF2 (0, 5, 25 ng/ml).
View Article and Find Full Text PDFInt J Clin Exp Med
November 2013
Department of Stomatology, Second Affiliated Hospital, Chongqing Medical University Chongqing, China.
Cleidocranial dysplasia syndrome (CCD) is a rare autosomal dominant disease with wide range of variability. Dentists are often the first to encounter the CCD patients, some of whom do not show typical manifestations. Thus, dentists should be fully familiar with clinical manifestations and gene mutation.
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