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 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
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 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip.
|
11459326 |
2001 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To investigate the RUNX2 mutations in a Japanese patient with classic CCD, we analyzed the RUNX2 gene using polymerase chain reaction (PCR)-single-strand conformation polymorphism and PCR-restriction fragment length polymorphism.
|
11448020 |
2001 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia.
|
11768584 |
2001 |
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
On the one hand, these genotype-phenotype correlations highlight a general, quantitative dependency, by skeleto-dental developments, on the gene dosage of RUNX2, which has hitherto been obscured by extreme clinical diversities of CCD; this gene-dosage effect is presumed to manifest on small reductions in the total RUNX2 activity, by approximately one-fourth of the normal level at minimum.
|
12196916 |
2002 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Chromosomal translocations, deletions, insertions, nonsense and splice-site mutations, as well as missense mutations of the RUNX2 gene have been described in CCD patients.
|
11857736 |
2002 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia.
|
12081718 |
2002 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
On the one hand, these genotype-phenotype correlations highlight a general, quantitative dependency, by skeleto-dental developments, on the gene dosage of RUNX2, which has hitherto been obscured by extreme clinical diversities of CCD; this gene-dosage effect is presumed to manifest on small reductions in the total RUNX2 activity, by approximately one-fourth of the normal level at minimum.
|
12196916 |
2002 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cleidocranial dysplasia (OMIM 119600) is a skeletal dysplasia caused by mutations in the bone/cartilage specific osteoblast transcription factor RUNX2 gene.
|
12424591 |
2002 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
While the clinical examination showed uncharacteristic CCD symptoms with some findings common for RTS, the molecular-genetic analysis revealed a missense mutation in the CBFA1 gene, which is considered to be the etiological factor for CCD.
|
12416539 |
2002 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia.
|
12081718 |
2002 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Chromosomal translocations, deletions, insertions, nonsense and splice-site mutations, as well as missense mutations of the RUNX2 gene have been described in CCD patients.
|
11857736 |
2002 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Chromosomal translocations, deletions, insertions, nonsense and splice-site mutations, as well as missense mutations of the RUNX2 gene have been described in CCD patients.
|
11857736 |
2002 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
RUNX2 contains a glutamine-alanine repeat where mutations causing cleidocranial dysplasia (CCD) have been observed.
|
12162506 |
2002 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.
|
12424590 |
2002 |
Cleidocranial Dysplasia
|
1.000 |
AlteredExpression
|
disease |
LHGDN |
On the one hand, these genotype-phenotype correlations highlight a general, quantitative dependency, by skeleto-dental developments, on the gene dosage of RUNX2, which has hitherto been obscured by extreme clinical diversities of CCD; this gene-dosage effect is presumed to manifest on small reductions in the total RUNX2 activity, by approximately one-fourth of the normal level at minimum.
|
12196916 |
2002 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our data add new variants to the repertoire of RUNX2 mutations in CCD.
|
12815605 |
2003 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Our data add new variants to the repertoire of RUNX2 mutations in CCD.
|
12815605 |
2003 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Overall, these results suggest that CCD could result from a much smaller loss in the RUNX2 function than envisioned on the basis of the conventional haploinsufficiency model.
|
12732182 |
2004 |
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
CTD_human |
Heterozygous mutations in Runx2 cause cleidocranial dysplasia (CCD), an inherited disorder in humans and mice characterized by skeletal defects, supernumerary teeth, and delayed eruption.
|
14688224 |
2004 |
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
RUNX2 regulates osteoblast differentiation and chondrocyte maturation and its haploinsufficiency leads to cleidocranial dysplasia, characterized large fontanelles, hypoplasia or aplasia of the clavicles, hypoplasia of the distal phalanges, and a wide pubic symphysis.
|
15566413 |
2004 |
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Overall, these results suggest that CCD could result from a much smaller loss in the RUNX2 function than envisioned on the basis of the conventional haploinsufficiency model.
|
12732182 |
2004 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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 |
BEFREE |
Together, these data show that humans with CCD have altered endochondral ossification due to altered RUNX2 regulation of hypertrophic chondrocyte-specific genes during chondrocyte maturation.
|
15952089 |
2005 |