Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
tumoral
|
|
| --low
|
|
associated with tumor progression |
tumoral
|
|
| --other
|
|
aberrantly expressed by cancer-associated stromal cells (basal cell carcinoma) |
constitutional
|
|
| --over
|
|
overexpression causes osteopenia |
constitutional
|
| deletion
|
|
|
causes increased trabecular bone volume secondary to increased bone formation and osteoblastic activity |
constitutional
|
| deletion
|
|
|
has a major impact in the early phases of bone acquisition, and are in accordance with the role of BMPs during skeletal development |
tumoral
|
|
| --low
|
|
by hypermethylation in renal cell carcinoma  |
constitutional
| germinal mutation
|
|
|
|
in isolated Congenital anomalies of the kidney and urinary tract (CAKUT)  |
constitutional
|
|
| --over
|
|
in rheumatoid arthritis (RA) joints  |