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cleidocranial dysplasia/phosphatase
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Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
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Yunis-Varón syndrome (YVS) is an autosomal-recessive disorder with cleidocranial dysplasia, digital anomalies, and severe neurological involvement. Enlarged vacuoles are found in neurons, muscle, and cartilage. By whole-exome sequencing, we identified frameshift and missense mutations of FIG4 in
Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin.
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Neonatal lethal skeletal dysplasias are rare and typically involve thoracic malformations and severe limb shortening. We report on a newborn boy manifesting an osteochondrodysplasia associated with fatal respiratory insufficiency who had normal lung volumes and extremity lengths. His disorder
Abnormal differentiation of dental pulp cells in cleidocranial dysplasia.
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Cleidocranial dysplasia (CCD) is a skeletal dysplasia caused by heterozygous mutations of RUNX2, a gene that is essential for the mineralization of bone and tooth. We isolated primary dental pulp cells from a 10-y-old patient and tested their proliferative capacity, alkaline phosphatase activity,
A RUNX2/PEBP2alphaA/CBFA1 mutation in cleidocranial dysplasia revealing the link between the gene and Smad.
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Cleidocranial dysplasia (CCD), an autosomal dominant human bone disease, is thought to be caused by heterozygous mutations in RUNX2/PEBP2alphaA/CBFA1. To understand the mechanism underlying the pathogenesis of CCD, we studied a novel mutant of RUNX2, namely CCDalphaA376, originally identified in a
[Immunohistochemical study on collagen I content in the gingiva in cleidocranial dysplasia].
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BACKGROUND
Patients with cleidocranial dysplasia (CCD) present a thickend and fibrotic gingiva.
OBJECTIVE
To the best of our knowledge it was analysed for the first time, whether this is correlated with an increased rate of collagen I in oral mucosa.
METHODS
27 soft tissue biopsies of six
Cleidocranial dysplasia in a mother and her two children.
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Cleidocranial dysplasia (CCD) is an autosomal dominant disease characterized by skeletal abnormalities which is secondary to haploinsufficiency of the transcription factor Runx2 that plays a role in osteoblast differentiation. In this report, we present a female patient who came to our Rheumatology
Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2.
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Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia due to mutations causing haploinsufficiency of RUNX2, an osteoblast transcription factor specific for bone and cartilage. The classic form of CCD is characterized by delayed closure of the fontanels, hypoplastic or
Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.
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Cleidocranial dysplasia (CCD; MIM 119600) is an autosomal dominant skeletal dysplasia characterised by hypoplastic clavicles, patent fontanelles, short stature, tooth anomalies and other variable skeletal changes. Different mutations of the RUNX2/CBFA1 gene (MIM 600211) have been detected in
Severe cleidocranial dysplasia can mimic hypophosphatasia.
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Cleidocranial dysplasia (OMIM 119600) is a skeletal dysplasia caused by mutations in the bone/cartilage specific osteoblast transcription factor RUNX2 gene. It is characterised by macrocephaly with persistently open sutures, absent or hypoplastic clavicles, dental anomalies, and delayed ossification
RUNX2 mutation impairs bone remodelling of dental follicle cells and periodontal ligament cells in patients with cleidocranial dysplasia.
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RUNX2 is an important osteo-specific factor with crucial functions in bone formation and remodelling as well as resorption of teeth. Heterozygous mutation of RUNX2 can cause cleidocranial dysplasia (CCD), a systemic disease with extensive skeletal dysplasia and abnormality of tooth growth. In our
Abnormal bone remodelling activity of dental follicle cells from a cleidocranial dysplasia patient.
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OBJECTIVE
To explore the role of dental follicle cells (DFCs) with a novel cleidocranial dysplasia (CCD) causative gene RUNX2 mutation (DFCsRUNX2+/m ) in delayed permanent tooth eruption.
METHODS
A CCD patient with typical clinical features was involved in this study. DFCsRUNX2+/m were cultured and
Cementum analysis in cleidocranial dysostosis.
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OBJECTIVE
Cleidocranial dysostosis (CCD) is a skeletal disorder associated with dental anomalies such as failure or delayed eruption of permanent teeth and multiple impacted supernumerary or permanent teeth. Absence of cellular cementum at the root apex is presumed to be one of the factors for
A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia.
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To identify a novel mutation of Runx2 gene in Cleidocranial Dysplasia (CCD) patients and to characterize the functional consequences of this mutation. The subjects consisted of 12 Korean CCD patients. After oral epithelial cells were collected using a mouthwash technique, genomic DNA was extracted.
Tooth eruption and cementum formation in the Runx2/Cbfa1 heterozygous mouse.
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Cleidocranial dysplasia (CCD) is an autosomal dominant human disorder that affects development of bones and teeth. The dental disorders in CCD patients include formation of supernumerary teeth, delayed tooth eruption, and lack of formation of cellular cementum in permanent teeth. This disorder
Delayed tooth movement in Runx2 +/- mice associated with mTORC2 in stretch-induced bone formation
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Runt-related transcription factor 2 (Runx2) is an essential transcription factor for osteoblast differentiation, and is activated by mechanical stress to promote osteoblast function. Cleidocranial dysplasia (CCD) is caused by mutations of RUNX2, and CCD patients exhibit malocclusion and often
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