×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
Cleidocranial Dysplasia
1.000
GeneticVariation
BEFREE
Although CCD is usually caused by mutations leading to haploinsufficiency of RUNX2 , the underlying genetic cause remains unresolved in about 25% of cases.
22717651
2012
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
Cleidocranial Dysplasia
1.000
Biomarker
BEFREE
Previous studies reported a connection between CCD and the haploinsufficiency of runt-related transcription factor 2 (RUNX2 ).
28091408
2017
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
Cleidocranial Dysplasia
1.000
Biomarker
BEFREE
RUNX2 analysis of Danish cleidocranial dysplasia families.
20560987
2011
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
Cleidocranial Dysplasia
1.000
GeneticVariation
BEFREE
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.
25589510
2015
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
Cleidocranial Dysplasia
1.000
Biomarker
CTD_human
RUNX2 mutations lead to cleidocranial dysplasia in humans.
17022082
2006
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
Cleidocranial Dysplasia
1.000
GeneticVariation
BEFREE
Our results provide new genetic evidence that mutations involved in RUNX2 contribute to CCD .
20702542
2010
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
Cleidocranial Dysplasia
1.000
GeneticVariation
BEFREE
RUNX2 mutations lead to cleidocranial dysplasia in humans.
17022082
2006
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
Cleidocranial Dysplasia
1.000
Biomarker
BEFREE
In addition, AML3 has an essential role in bone development, as it is required for osteoblast differentiation and is mutated in patients with cleidocranial dysplasia .J.Cell.Biochem.Suppls.32/33:51-58, 1999.
10629103
1999
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
Cleidocranial Dysplasia
1.000
GeneticVariation
BEFREE
A novel mutation in the C-terminal region of RUNX2 /CBFA1 distal to the DNA-binding runt domain in a Japanese patient with cleidocranial dysplasia .
21115325
2011
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
Cleidocranial Dysplasia
1.000
GeneticVariation
BEFREE
A missense mutation (c.674 G > T, p. R225 L) of RUNX2 gene was identified in the CCD patient.
30391791
2019
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
Cleidocranial Dysplasia
1.000
GeneticVariation
BEFREE
We tested this approach in three patients with complex chromosomal translocations: The first had craniofacial abnormalities and an apparently balanced t(2;3)(p15;q12) translocation; the second has cleidocranial dysplasia (OMIM 119600) associated with a t(2;6)(q22;p12.3) translocation and a breakpoint in RUNX2 on chromosome 6p; and the third has acampomelic campomelic dysplasia (OMIM 114290) associated with a t(5;17)(q23.2;q24) translocation, with a breakpoint upstream of SOX9 on chromosome 17q.
21890680
2011
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
Cleidocranial Dysplasia
1.000
GeneticVariation
LHGDN
In this study, we analyzed by direct sequencing RUNX2 mutations from eleven CCD patients.
16270353
2006
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
Cleidocranial Dysplasia
1.000
GeneticVariation
BEFREE
Mutations within RUNX2 are linked to Cleidocranial dysplasia syndrome (CCD) in humans.
27272193
2016
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
Cleidocranial Dysplasia
1.000
GeneticVariation
BEFREE
RUNX2 mutations could cause Cleidocranial dysplasia (CCD; OMIM119600), which is featured by abnormal development of bone and teeth.
29233684
2018
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
Cleidocranial Dysplasia
1.000
GeneticVariation
BEFREE
These findings extend the mutational spectrum of the RUNX2 gene and might contribute to genetic diagnosis and counseling of families with CCD .
30798031
2019
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
Cleidocranial Dysplasia
1.000
GeneticVariation
BEFREE
To understand the mechanism underlying the pathogenesis of CCD, we studied a novel mutant of RUNX2 , namely CCDalphaA376, originally identified in a CCD patient.
11368305
2001
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
Cleidocranial Dysplasia
1.000
Biomarker
BEFREE
For the first time, RUNX2 (+/m) dental pulp cells (DPCs) were isolated from two permanent incisors of the CCD patient.
20872798
2010
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
Cleidocranial Dysplasia
1.000
Biomarker
BEFREE
Haploinsufficiency of RUNX2 is the genetic cause of cleidocranial dysplasia (CCD ) that is characterized by hypoplastic clavicles and open fontanels.
23702614
2013
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
Cleidocranial Dysplasia
1.000
GeneticVariation
BEFREE
The mutation of the RUNX2 gene results in cleidocranial dysplasia syndrome.
27500518
2018
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
Cleidocranial Dysplasia
1.000
GeneticVariation
BEFREE
These results confirm that loss of function RUNX2 mutation (c.577C>T) in Case 1 family is responsible for its CCD phenotype.
19515746
2009
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
Cleidocranial Dysplasia
1.000
AlteredExpression
BEFREE
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.
18818114
2008
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
Cleidocranial Dysplasia
1.000
GeneticVariation
BEFREE
Mutations in RUNX2 are detected in approximately 65% of cases of CCD , and microdeletions occur in 13%.
20014132
2010
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
Cleidocranial Dysplasia
1.000
GeneticVariation
UNIPROT
In this study, we analyzed by direct sequencing RUNX2 mutations from eleven CCD patients.
16270353
2006
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
Cleidocranial Dysplasia
1.000
GeneticVariation
BEFREE
Here, we investigated a complex, heterozygous RUNX2 gene mutation in a Chinese family with CCD and the pathogenesis associated with the variations.
28173761
2017
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
Cleidocranial Dysplasia
1.000
GeneticVariation
BEFREE
Lastly, heterozygous mutations in the Osf2/Cbfa1 gene cause Cleidocranial dysplasia in human and mice, a condition marked by generalized bone defects.
9682035
1998