|
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Cleidocranial Dysplasia
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
Cleidocranial Dysplasia
|
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 |
|
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development.
|
9182764 |
1997 |
|
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
MGD |
Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development.
|
9182764 |
1997 |
|
Cleidocranial Dysplasia
|
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 |
|
Cleidocranial Dysplasia
|
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 |
|
Cleidocranial Dysplasia
|
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 |
|
Cleidocranial Dysplasia
|
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 |
|
Cleidocranial Dysplasia
|
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 |
|
Cleidocranial Dysplasia
|
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 |
|
Cleidocranial Dysplasia
|
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 |
|
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
MGD |
Excessive extramedullary hematopoiesis in Cbfa1-deficient mice with a congenital lack of bone marrow.
|
10049712 |
1999 |
|
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
These studies show that haploinsufficiency of CBFA1 causes the CCD phenotype.
|
10204840 |
1999 |
|
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
MGD |
Maturational disturbance of chondrocytes in Cbfa1-deficient mice.
|
10213384 |
1999 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We have now analyzed the CBFA1 gene in 42 unrelated patients with CCD.
|
10521292 |
1999 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have now analyzed the CBFA1 gene in 42 unrelated patients with CCD.
|
10521292 |
1999 |
|
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Together these data show that variable loss of function due to alterations in the runt and PST domains of CBFA1 may give rise to clinical variability, including classic CCD, mild CCD and isolated primary dental anomalies.
|
10545612 |
1999 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Together these data show that variable loss of function due to alterations in the runt and PST domains of CBFA1 may give rise to clinical variability, including classic CCD, mild CCD and isolated primary dental anomalies.
|
10545612 |
1999 |
|
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Together these data show that variable loss of function due to alterations in the runt and PST domains of CBFA1 may give rise to clinical variability, including classic CCD, mild CCD and isolated primary dental anomalies.
|
10545612 |
1999 |
|
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
MGD |
Morphological characterization of skeletal cells in Cbfa1-deficient mice.
|
10593408 |
1999 |
|
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
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 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The results not only provide a strong genetic evidence that mutations involving in PEBP2alphaA/CBFA1 contribute to CCD, but also provide a useful tool to study how Runx2/PEBP2alphaA/CBFA1 plays its pivotal role during osteoblastic differentiation.
|
10689183 |
2000 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The results not only provide a strong genetic evidence that mutations involving in PEBP2alphaA/CBFA1 contribute to CCD, but also provide a useful tool to study how Runx2/PEBP2alphaA/CBFA1 plays its pivotal role during osteoblastic differentiation.
|
10689183 |
2000 |
|
Cleidocranial Dysplasia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Therefore, the pathogenesis of CCD may be related to the impaired Smad signaling of transforming growth factor beta/bone morphogenetic protein pathways that target the activity of RUNX2 during bone formation.
|
10962029 |
2000 |