KEGG   NETWORK: N00290
Entry
N00290                      Network                                

Name
Mutation-inactivated MEN1 to transcription
Definition
(MEN1*+KMT2A) // (CDKN1B,CDKN2C)
  Expanded
(4221v1+4297) // (1027,1031)
Class
nt06360 Cushing syndrome
Type
Variant
Pathway
hsa04934  Cushing syndrome
hsa05202  Transcriptional misregulation in cancer
Disease
H00247  Multiple endocrine neoplasia syndrome
H00246  Primary hyperparathyroidism
H01102  Pituitary adenomas
H01431  Cushing syndrome
H01522  Zollinger-Ellison syndrome
H00034  Carcinoid
H00033  Adrenal carcinoma
Gene
4221  MEN1; menin 1
4297  KMT2A; lysine methyltransferase 2A
1027  CDKN1B; cyclin dependent kinase inhibitor 1B
1031  CDKN2C; cyclin dependent kinase inhibitor 2C
Variant
4221v1  MEN1 mutation
Reference
  Authors
Lecoq AL, Kamenicky P, Guiochon-Mantel A, Chanson P
  Title
Genetic mutations in sporadic pituitary adenomas--what to screen for?
  Journal
Nat Rev Endocrinol 11:43-54 (2015)
DOI:10.1038/nrendo.2014.181
Reference
  Authors
Wu X, Hua X
  Title
Menin, histone h3 methyltransferases, and regulation of cell proliferation: current knowledge and perspective.
  Journal
Curr Mol Med 8:805-15 (2008)
DOI:10.2174/156652408786733702
Reference
  Authors
Milne TA, Hughes CM, Lloyd R, Yang Z, Rozenblatt-Rosen O, Dou Y, Schnepp RW, Krankel C, Livolsi VA, Gibbs D, Hua X, Roeder RG, Meyerson M, Hess JL
  Title
Menin and MLL cooperatively regulate expression of cyclin-dependent kinase inhibitors.
  Journal
Proc Natl Acad Sci U S A 102:749-54 (2005)
DOI:10.1073/pnas.0408836102
Reference
  Authors
Tsukada T, Nagamura Y, Ohkura N
  Title
MEN1 gene and its mutations: basic and clinical implications.
  Journal
Cancer Sci 100:209-15 (2009)
DOI:10.1111/j.1349-7006.2008.01034.x

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