Tricho-dento-osseous syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho-dento-osseous syndrome.
|
30095208 |
2019 |
Tricho-dento-osseous syndrome (disorder)
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
Our new findings, for the first time, suggest that MU-DLX3 significantly inhibits hDPCs differentiation via H19/miR-675 axis and provides a new mechanism insight into how MU-DLX3 epigenetically alters H19 methylation status and expression contributes to dentin hypoplasia in TDO syndrome.
|
31029881 |
2019 |
Tricho-dento-osseous syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our findings uncover an unanticipated regulatory role for miR-675 in the odontogenic differentiation of hDPCs by epigenetic changes in DLX3 and provide novel insight into dentin hypoplasia feature in TDO patients.
|
29604248 |
2018 |
Tricho-dento-osseous syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel de novo mutation of DLX3 significantly decreases the proliferation rate and inhibits the odontogenic differentiation and mineralization of hDPCs, suggesting that this novel mutation of DLX3 can influence the dentinogenesis in TDO syndrome.
|
28135572 |
2017 |
Tricho-dento-osseous syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our previous study has shown that the TDO point mutation c.533A>G, Q178R in DLX3 could increase bone density in a TDO patient and transgenic mice partially through delaying senescence in bone marrow mesenchymal stem cells (BMSCs).
|
28963438 |
2017 |
Tricho-dento-osseous syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Unexpected identification of a recurrent mutation in the DLX3 gene causing amelogenesis imperfecta.
|
26762616 |
2016 |
Tricho-dento-osseous syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we show that the DLX3 mutation (c.533 A>G; Q178R) attenuates osteogenic potential and senescence of bone mesenchymal stem cells (BMSCs) isolated from a TDO patient, providing a molecular explanation for abnormal increased bone density.
|
27924851 |
2016 |
Tricho-dento-osseous syndrome (disorder)
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Together, our data show that DLX3 promotes the expression of the EMP genes Amelx, Enam, Klk4, and Odam in amelogenesis, while mutant-DLX3 disrupts this regulatory function, thus providing insights into the molecular mechanisms underlying the enamel defects of TDO disease.
|
25815730 |
2015 |
Tricho-dento-osseous syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Morphological analyses and a novel de novo DLX3 mutation associated with tricho-dento-osseous syndrome in a Chinese family.
|
26104267 |
2015 |
Tricho-dento-osseous syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
The deleted region on chromosome 17 contains 39 genes, including COL1A1 and DLX3 involved in OI and TDO syndrome respectively.
|
23949819 |
2013 |
Tricho-dento-osseous syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The deleted region on chromosome 17 contains 39 genes, including COL1A1 and DLX3 involved in OI and TDO syndrome respectively.
|
23949819 |
2013 |
Tricho-dento-osseous syndrome (disorder)
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Tricho-dento-osseous syndrome: diagnosis and dental management.
|
22969805 |
2012 |
Tricho-dento-osseous syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
However, we found that in cell expressing equal amounts of mutant and wild-type DLX3, ΔNp63α protein level is efficiently regulated implying that genetic heterozygosity at the DLX3 locus protects TDO patients from developing severe p63-associated skin defects.
|
21520071 |
2011 |
Tricho-dento-osseous syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
We suggest that TDO is essentially caused by loss of function and haploinsufficiency of DLX3.
|
21252474 |
2011 |
Tricho-dento-osseous syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The tricho-dento-osseous syndrome is a rare genetic disorder due to a mutation in the DLX3 gene on chromosome 17q21.
|
20151948 |
2010 |
Tricho-dento-osseous syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
Although DLX3(TDO) alone cannot bind to a Dlx3 responsive element, when DLX3(WT) and DLX3(TDO) are co-expressed they form a complex that can bind DNA.
|
18492670 |
2008 |
Tricho-dento-osseous syndrome (disorder)
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Although DLX3(TDO) alone cannot bind to a Dlx3 responsive element, when DLX3(WT) and DLX3(TDO) are co-expressed they form a complex that can bind DNA.
|
18492670 |
2008 |
Tricho-dento-osseous syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The present study shows that the DLX3 c.560_561delCT mutation causes an attenuated TDO phenotype with less severe hair, tooth, and bone manifestations compared with individuals having the DLX3 c.571_574delGGGG mutation.
|
18203197 |
2008 |
Tricho-dento-osseous syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
Since the gene defect of TDO has been localized only in the DLX3 gene, the more probable diagnosis was AI.
|
17559453 |
2007 |
Tricho-dento-osseous syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Previous studies have shown a DLX3 mutation outside the homeodomain associated with tricho-dento-osseous syndrome (TDO) suggesting TDO and some forms of AIHHT are allelic.
|
15666299 |
2005 |
Tricho-dento-osseous syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
All participants were evaluated for the DLX3 mutation associated with TDO.
|
15454107 |
2004 |
Tricho-dento-osseous syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Results of the analysis demonstrate that AIHHT and TDO are not due to a common DLX3 gene mutation.
|
10466415 |
1999 |
Tricho-dento-osseous syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this paper we describe genomic cloning and sequencing of both human DLX3 and DLX7 and identification of a 4 bp deletion in human DLX3 which correlates with the TDO phenotype in six families.
|
9467018 |
1998 |
Tricho-dento-osseous syndrome (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that all people with TDO who have been evaluated have inherited the same DLX3 gene deletion mutation from a common ancestor.
|
9783705 |
1998 |
Tricho-dento-osseous syndrome (disorder)
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|