|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
RUNX2 (OMIM 600211), the responsible gene for CCD, is considered to be a master gene for bone development and bone homeostasis.
|
16222673 |
2005 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
A novel 574G > A RUNX2 missense mutation has been found in members of a family clinically diagnosed with CCD.
|
16244783 |
2005 |
|
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
CTD_human |
RUNX2 mutations lead to cleidocranial dysplasia in humans.
|
17022082 |
2006 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
RUNX2 mutations lead to cleidocranial dysplasia in humans.
|
17022082 |
2006 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
In this study, we analyzed by direct sequencing RUNX2 mutations from eleven CCD patients.
|
16270353 |
2006 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
In this study, we analyzed by direct sequencing RUNX2 mutations from eleven CCD patients.
|
16270353 |
2006 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We also report the mutation screening of the "bone-related" RUNX2 promoter in CCD patients without mutation in the RUNX2 coding region.
|
16140555 |
2006 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CCD is caused by mutations in the transcription factor RUNX2, which is known to function as a major regulator of bone differentiation.
|
16463420 |
2006 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our findings demonstrate for the first time that the CCD phenotype can be caused by a splice site mutation, which results in the deletion of N-terminus amino acids containing the QA stretch in RUNX2 that contains a previously unidentified second nuclear localization signal (NLS).
|
16270353 |
2006 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Diversity of supernumerary tooth formation in siblings with cleidocranial dysplasia having identical mutation in RUNX2 : possible involvement of non-genetic or epigenetic regulation.
|
17973689 |
2007 |
|
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
MGD |
These results establish GSK-3beta as a key attenuator of Runx2 activity in bone formation and as a potential molecular target for clinical treatment of bone catabolic disorders like cleidocranial dysplasia.
|
17786208 |
2007 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
In this study of a 14-yr-old boy with typical CCD phenotype, the authors found a novel CBFA1/RUNX2 gene mutation.
|
17522365 |
2007 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Diversity of supernumerary tooth formation in siblings with cleidocranial dysplasia having identical mutation in RUNX2 : possible involvement of non-genetic or epigenetic regulation.
|
17973689 |
2007 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails.
|
18166138 |
2007 |
|
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Runx2 is an essential factor for skeletogenesis and heterozygous loss causes cleidocranial dysplasia in humans and a corresponding phenotype in the mouse.
|
16829211 |
2007 |
|
Cleidocranial Dysplasia
|
1.000 |
AlteredExpression
|
disease |
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 |
|
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
MGD |
Impaired skin and hair follicle development in Runx2 deficient mice.
|
18262513 |
2008 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the runx2 gene in humans cause cleidocranial dysplasia.
|
17656144 |
2008 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Early prenatal diagnosis of cleidocranial dysplasia (CCD) in a case in which molecular genetic analysis of the RUNX2 gene was non-informative.
|
18648208 |
2008 |
|
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
We hypothesize that the proband's CCD has arisen from disruption of the developmentally regulated gene RUNX2 at the 6p21 breakpoint, due to a position effect mutation which may have altered the expression of the gene.
|
18203189 |
2008 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These findings confirm that mutations in the RUNX2 gene are associated with the pathogenesis of CCD across different ethnic backgrounds.
|
18777095 |
2008 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our results provide new genetic evidence that mutations involved in RUNX2 contribute to CCD.
|
19767586 |
2009 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
RUNX2 mutations cause cleidocranial dysplasia; most are of the missense type and commonly occur in the Runt domain.
|
19830829 |
2009 |
|
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
MGD |
However, distinct RUNX2 mutations in CCD do not correlate with the severity of the disease.
|
19028669 |
2009 |