| Name |
DLX3
|
| Type |
somatic mutation
|
| Species |
Homo sapiens
|
| Tissue |
the bone tissue of a 26-year-old female with typical TDO features11 and gender- and age-matched normal donors (n=3)
|
| Experiment Method |
quantitative real-time PCR;Western blot;Immunohistochemical;Electrophoretic mobility shift assay (EMSA)
|
| Up/Down |
NA
|
| Pro/Anti |
Anti
|
| Funtion Description |
DLX3 mutation 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. Both DLX3 mutations delayed cellular senescence when th
|
| Regulation Gene |
NA
|
| Year |
2017
|
| Pubmed ID |
27924851
|
| Title |
Senescence: novel insight into DLX3 mutations leading to enhanced bone formation in Tricho-Dento-Osseous syndrome
|
| Drug |
NA
|
| Disease |
Tricho-Dento-Osseous (TDO) syndrome
|
| Environment Factors |
NA
|
| Circulating |
NA
|
| Variant |
NA
|
| High-throughput |
NA
|