Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A missense mutation (c.674 G > T, p. R225 L) of RUNX2 gene was identified in the CCD patient.
|
30391791 |
2019 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
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 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Most RUNX2 mutations described in the literature result in loss-of-function mutations of RUNX2 responsible for cleidocranial dysplasia, an autosomal dominant disorder.
|
29852250 |
2019 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cleidocranial dysplasia (CCD, #119600), which is characterized by hypoplastic clavicles, open fontanelles, supernumerary teeth and a short stature, is caused by heterozygous mutations in RUNX2.
|
30445456 |
2019 |
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Presented data show that pathogenic variants discovered in our patients have a detrimental effect on RUNX2, triggering the CCD phenotype.
|
31347140 |
2019 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder caused by heterozygous mutations in RUNX2.
|
30391578 |
2019 |
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Deletion of <i>Mek1</i> and <i>Mek2</i>, kinases upstream of ERK MAPK, in osteoprogenitors (<i>Mek1<sup>Osx</sup>Mek2<sup>-/-</sup></i>), resulted in severe osteopenia and cleidocranial dysplasia (CCD), similar to that seen in humans and mice with impaired RUNX2 function.
|
31013682 |
2019 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the transcription factor RUNX2 are responsible for the pathogenesis of CCD.
|
31192880 |
2019 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Runt-related transcription factor 2 (<i>RUNX2</i>) gene variants can cause CCD, but are not identified in all CCD patients.
|
31548836 |
2019 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The clinical manifestations of three CCD patients were collected and the mutations of RUNX2 were analyzed.
|
30506733 |
2019 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cleidocranial dysplasia (CCD) is a rare autosomal-dominantly inherited skeletal dysplasia that is predominantly associated with heterozygous mutations of RUNX2.
|
29943367 |
2019 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
RUNX2 mutations could cause Cleidocranial dysplasia (CCD; OMIM119600), which is featured by abnormal development of bone and teeth.
|
29233684 |
2018 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The mutation of the RUNX2 gene results in cleidocranial dysplasia syndrome.
|
27500518 |
2018 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we explored a novel, large deletion in RUNX2 gene in a Chinese patient with CCD and the function associated with the mutation.
|
29089101 |
2018 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cleidocranial dysplasia (CCD), caused by mutations in the runt-related transcription factor 2 (RUNX2) gene, is such a condition.
|
30178560 |
2018 |
Cleidocranial Dysplasia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Surprisingly, the osteogenic deficiency and the abnormal expression of osteoblast-associated genes in DFCs from the CCD patient were almost rescued by overexpression of wild-type RUNX2 using lentivirus.
|
29947791 |
2018 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The G462X mutation might reduce the Runx2 transacting activity, lower the protein stability, downgrade the expression of bone marker genes, and eventually diminish osteoblast differentiation in CCD patients.
|
28703881 |
2018 |
Cleidocranial Dysplasia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Moreover, <i>ALPL</i> expression was up-regulated in CCD-011 pulp cells after introduction of normal RUNX2.
|
29875795 |
2018 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we investigated whether induced pluripotent stem cells (iPSCs) properly differentiate into osteoblasts after repairing the RUNX2 mutation in iPSCs derived from CCD patients to establish normal iPSCs, and whether engraftment of osteoblasts derived from properly reverted iPSCs results in better regeneration in immunodeficient rat calvarial bone defect models.
|
29357927 |
2018 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The G462X mutation might reduce the Runx2 transacting activity, lower the protein stability, downgrade the expression of bone marker genes, and eventually diminish osteoblast differentiation in CCD patients.
|
28703881 |
2018 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A missense RUNX2 mutation (c. 557G>C) was found in DFCs<sup>RUNX</sup><sup>2+/m</sup> from the CCD patient.
|
29787635 |
2018 |
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Previous studies reported a connection between CCD and the haploinsufficiency of runt-related transcription factor 2 (RUNX2).
|
28091408 |
2017 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
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 |
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
The results of our study and the comprehensive review of the literature show that pathways of forming supernumerary teeth appear to involve APC and RUNX2, the genes responsible for familial adenomatous polyposis syndrome and cleidocranial dysplasia, respectively.
|
27706911 |
2017 |
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal disorder caused by mutations in RUNX2, coding a key transcription factor of early osteogenesis.
|
28052439 |
2017 |