Entry |
|
Name |
Mutation-inactivated CDKN1B to p27-cell cycle G1/S
|
Definition |
CDKN1B* // (CCNE+CDK2) -> RB1 // E2F |
Expanded |
1027v3 // ((898,9134)+1017) -> 5925 // (1869,1870,1871) |
Class |
|
Type |
Variant
|
Pathway |
|
Disease |
|
Gene |
1027 | CDKN1B; cyclin dependent kinase inhibitor 1B |
1017 | CDK2; cyclin dependent kinase 2 |
5925 | RB1; RB transcriptional corepressor 1 |
1869 | E2F1; E2F transcription factor 1 |
1870 | E2F2; E2F transcription factor 2 |
1871 | E2F3; E2F transcription factor 3 |
|
Variant |
1027v3 (CDKN1B*) CDKN1B mutation
|
Reference |
|
Authors |
Fukuoka H, Takahashi Y |
Title |
The role of genetic and epigenetic changes in pituitary tumorigenesis. |
Journal |
|
Reference |
|
Authors |
Molatore S, Marinoni I, Lee M, Pulz E, Ambrosio MR, degli Uberti EC, Zatelli MC, Pellegata NS |
Title |
A novel germline CDKN1B mutation causing multiple endocrine tumors: clinical, genetic and functional characterization. |
Journal |
|
Reference |
|
Authors |
Melmed S |
Title |
Pathogenesis of pituitary tumors. |
Journal |
|
LinkDB |
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