|
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
In conclusion, we identified a novel insertion/frameshift mutation in the RUNX2 gene that caused a typical CCD phenotype and altered the biological function of RUNX2(+/m) MSCs.
|
23376464 |
2013 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in RUNX2 have been identified in cleidocranial dysplasia (CCD) patients.
|
24222232 |
2013 |
|
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our findings support the notion that haploinsufficiency of RUNX2 may be mainly responsible for CCD.
|
23659235 |
2013 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Although CCD is usually caused by mutations leading to haploinsufficiency of RUNX2, the underlying genetic cause remains unresolved in about 25% of cases.
|
22717651 |
2012 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The current findings suggest a correlation between dental alterations and mutations in the runt domain of RUNX2 in CCD patients.
|
22023169 |
2012 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A new phenotypic variant in cleidocranial dysplasia (CCD) associated with mutation c.391C>T of the RUNX2 gene.
|
23220435 |
2012 |
|
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
RUNX2 analysis of Danish cleidocranial dysplasia families.
|
20560987 |
2011 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the C-terminal region of RUNX2/CBFA1 distal to the DNA-binding runt domain in a Japanese patient with cleidocranial dysplasia.
|
21115325 |
2011 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We tested this approach in three patients with complex chromosomal translocations: The first had craniofacial abnormalities and an apparently balanced t(2;3)(p15;q12) translocation; the second has cleidocranial dysplasia (OMIM 119600) associated with a t(2;6)(q22;p12.3) translocation and a breakpoint in RUNX2 on chromosome 6p; and the third has acampomelic campomelic dysplasia (OMIM 114290) associated with a t(5;17)(q23.2;q24) translocation, with a breakpoint upstream of SOX9 on chromosome 17q.
|
21890680 |
2011 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We demonstrated that a novel mutation (c.549delC) of RUNX2 is associated with CCD in a Chinese family, adding to the repertoire of RUNX2 mutations related to CCD.
|
22194205 |
2011 |
|
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
The heterozygous germline mutation of runt-related protein 2 (RUNX2) causes cleidocranial dysplasia.
|
21951664 |
2011 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The molecular characterization of the novel RUNX2 gene mutation c.580 + 1G > A in an Italian family (a 27-year-old female, her 54-year-old mother and 24-year-old sister) affected by the typical CCD phenotype, which was proven to alter splicing of the RUNX2 messenger RNA, underscoring the contribution of novel altered splicing mechanism to the aetiology of this disease is presented.
|
21131390 |
2011 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our results provide new genetic evidence that mutations involved in RUNX2 contribute to CCD.
|
20702542 |
2010 |
|
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
For the first time, RUNX2(+/m) dental pulp cells (DPCs) were isolated from two permanent incisors of the CCD patient.
|
20872798 |
2010 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in RUNX2 are detected in approximately 65% of cases of CCD, and microdeletions occur in 13%.
|
20014132 |
2010 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We therefore suggest that screening for intragenic deletions and duplications by qPCR or MLPA should be considered for patients with CCD phenotype in whom DNA sequencing does not reveal a causative RUNX2 mutation.
|
20648631 |
2010 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cleidocranial dysplasia (CCD, MIM#119600), for which the responsible gene is RUNX2, is a genetic disorder characterized by hypoplasia or aplasia of the clavicles, patent fontanelles, and a short stature.
|
21040462 |
2010 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
RUNX2 mutations in cleidocranial dysplasia patients.
|
19744171 |
2010 |
|
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Deregulated TGFβ or Runx2 function compromises the distinctly hard cochlear bone matrix and causes hearing loss, as seen in human cleidocranial dysplasia.
|
20847738 |
2010 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
RUNX2 mutations in cleidocranial dysplasia patients.
|
19744171 |
2010 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We therefore suggest that screening for intragenic deletions and duplications by qPCR or MLPA should be considered for patients with CCD phenotype in whom DNA sequencing does not reveal a causative RUNX2 mutation.
|
20648631 |
2010 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Nevertheless, rare variants that modify the polyglutamine domain of RUNX2 neither have any effect on BMD nor produce the CCD phenotype.
|
20407796 |
2010 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This is the first report that gives evidence that the T420I mutation of RUNX2 is associated with CCD, expanding the spectrum of RUNX2 mutations causing CCD.
|
20082269 |
2010 |
|
Cleidocranial Dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The cleidocranial dysplasia-related R131G mutation in the Runt-related transcription factor RUNX2 disrupts binding to DNA but not CBF-beta.
|
20225274 |
2010 |
|
Cleidocranial Dysplasia
|
1.000 |
Biomarker
|
disease |
MGD |
Runx2 deficiency in mice causes decreased thyroglobulin expression and hypothyroidism.
|
20375239 |
2010 |