×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
1.000
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
1.000
GermlineCausalMutation
disease
ORPHANET
×
Entrez Id:
81847
Gene Symbol:
RNF146
RNF146
0.210
Biomarker
disease
MGD
×
Entrez Id:
1051
Gene Symbol:
CEBPB
CEBPB
0.210
Biomarker
disease
MGD
Targeted disruption of the NF-IL6 gene discloses its essential role in bacteria killing and tumor cytotoxicity by macrophages.
7530603
1995
×
Entrez Id:
202500
Gene Symbol:
TCTE1
TCTE1
0.010
GeneticVariation
disease
BEFREE
Linkage was established between CCD and four loci (D6S426, D6S451, D6S459, TCTE1 ) that span a region of 10 cM on chromosome 6p.
7711736
1995
×
Entrez Id:
6261
Gene Symbol:
RYR1
RYR1
0.390
GeneticVariation
disease
BEFREE
CCD has recently been shown to be tightly linked to the ryanodine receptor gene (RYR1 ) and mutations in this gene are known to be present in MH.
8220423
1993
×
Entrez Id:
4634
Gene Symbol:
MYL3
MYL3
0.010
AlteredExpression
disease
BEFREE
In contrast, we find that MLC1V mRNA levels tend to be reduced in both CM and CCD samples.
8377217
1993
×
Entrez Id:
6261
Gene Symbol:
RYR1
RYR1
0.390
GeneticVariation
disease
BEFREE
Recombination between the postulated CCD /MHE/MHS locus and RYR1 gene markers.
9147872
1996
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
1.000
Biomarker
disease
MGD
Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts.
9182763
1997
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
1.000
Biomarker
disease
BEFREE
Cbfa1 , a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development.
9182764
1997
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
1.000
Biomarker
disease
MGD
Cbfa1 , a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development.
9182764
1997
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
1.000
GeneticVariation
disease
BEFREE
We conclude that CBFA1 mutations cause CCD and that heterozygous loss of function is sufficient to produce the disorder.
9182765
1997
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
1.000
GeneticVariation
disease
UNIPROT
We conclude that CBFA1 mutations cause CCD and that heterozygous loss of function is sufficient to produce the disorder.
9182765
1997
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
1.000
Biomarker
disease
BEFREE
Thus, these results together suggest that CCD is produced by haploinsufficiency of OSF2/CBFA1 and provide direct genetic evidence that the phenotype is secondary to an alteration of osteoblast differentiation.
9207800
1997
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
1.000
GeneticVariation
disease
UNIPROT
Thus, these results together suggest that CCD is produced by haploinsufficiency of OSF2 /CBFA1 and provide direct genetic evidence that the phenotype is secondary to an alteration of osteoblast differentiation.
9207800
1997
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
1.000
GeneticVariation
disease
BEFREE
The cDNA cloning of the transcripts of human PEBP2alphaA/CBFA1 mapped to 6p12.3-p21.1, the locus for cleidocranial dysplasia .
9233771
1997
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
1.000
Biomarker
disease
BEFREE
The results confirm the map position of CCD on 6p21, further refine the CCD genetic interval by identifying a recombination between D6S451 and D6S459, and exclude BMP6 as a candidate gene.
9268099
1997
×
Entrez Id:
654
Gene Symbol:
BMP6
BMP6
0.010
Biomarker
disease
BEFREE
The results confirm the map position of CCD on 6p21, further refine the CCD genetic interval by identifying a recombination between D6S451 and D6S459, and exclude BMP6 as a candidate gene.
9268099
1997
×
Entrez Id:
1051
Gene Symbol:
CEBPB
CEBPB
0.210
Biomarker
disease
MGD
Defective adipocyte differentiation in mice lacking the C/EBPbeta and/or C/EBPdelta gene.
9405372
1997
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
1.000
GeneticVariation
disease
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
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
1.000
Biomarker
disease
MGD
Excessive extramedullary hematopoiesis in Cbfa1-deficient mice with a congenital lack of bone marrow.
10049712
1999
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
1.000
Biomarker
disease
BEFREE
These studies show that haploinsufficiency of CBFA1 causes the CCD phenotype.
10204840
1999
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
1.000
Biomarker
disease
MGD
Maturational disturbance of chondrocytes in Cbfa1-deficient mice.
10213384
1999
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
1.000
GeneticVariation
disease
UNIPROT
We have now analyzed the CBFA1 gene in 42 unrelated patients with CCD .
10521292
1999
×
Entrez Id:
860
Gene Symbol:
RUNX2
RUNX2
1.000
GeneticVariation
disease
BEFREE
We have now analyzed the CBFA1 gene in 42 unrelated patients with CCD .
10521292
1999