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Entry
N00316                      Network                                

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
nt06360 Cushing syndrome
Type
Variant
Pathway
hsa04934  Cushing syndrome
Disease
H01431  Cushing syndrome
H01102  Pituitary adenomas
Gene
1027  CDKN1B; cyclin dependent kinase inhibitor 1B
898  CCNE1; cyclin E1
9134  CCNE2; cyclin E2
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 mutation
Reference
  Authors
Fukuoka H, Takahashi Y
  Title
The role of genetic and epigenetic changes in pituitary tumorigenesis.
  Journal
Neurol Med Chir (Tokyo) 54 Suppl 3:943-57 (2014)
DOI:10.2176/nmc.suppl.2014-3
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
Hum Mutat 31:E1825-35 (2010)
DOI:10.1002/humu.21354
Reference
  Authors
Melmed S
  Title
Pathogenesis of pituitary tumors.
  Journal
Nat Rev Endocrinol 7:257-66 (2011)
DOI:10.1038/nrendo.2011.40
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