DLX3, distal-less homeobox 3, 1747

N. diseases: 67; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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