PMID- 23652667
OWN - NLM
STAT- MEDLINE
DCOM- 20131216
LR  - 20211021
IS  - 1662-3762 (Electronic)
IS  - 0301-3073 (Print)
IS  - 0301-3073 (Linking)
VI  - 41
DP  - 2013
TI  - Multiple endocrine neoplasia type 1.
PG  - 1-15
LID - 10.1159/000345666 [doi]
AB  - Multiple endocrine neoplasia type 1 (MEN1) is an autosomal-dominant tumor 
      syndrome characterized by the occurrence of tumors in multiple endocrine tissues 
      and nonendocrine tissues. The three main endocrine tissues most frequently 
      affected by tumors are parathyroid (95%), enteropancreatic neuroendocrine (50%) 
      and anterior pituitary (40%). Tumors are caused by a heterozygous 
      germline-inactivating mutation in the MEN1 gene (1st hit) followed by somatic 
      inactivating mutation or loss of the normal copy of the gene (2nd hit), leading 
      to complete loss of function of the encoded protein menin. Most of the disease 
      features and tumors are recapitulated in mouse models with heterozygous germline 
      loss of the Men1 gene. Also, tissue-specific tumors are observed in mouse models 
      with homozygous somatic loss of the Men1 gene specifically in MEN1-associated 
      endocrine tissues. Hence, mouse models could serve as possible surrogates for 
      studying MEN1 and related states. To gain insights into MEN1 pathophysiology, 
      menin-interacting partners and pathways have been identified to investigate its 
      tumor suppressor and other functions. Also, the 3D crystal structure of menin has 
      been deciphered which could be useful to reveal the relevance of MEN1 gene 
      mutations and menin's interactions. This chapter covers clinical, genetic and 
      basic findings about the MEN1 syndrome, MEN1 gene and its product protein menin.
CI  - Copyright (c) 2013 S. Karger AG, Basel.
FAU - Agarwal, Sunita K
AU  - Agarwal SK
AD  - Metabolic Diseases Branch, National Institute of Diabetes and Digestive and 
      Kidney Diseases, NIH, Bethesda, MD 20892, USA. SunitaA @ mail.nih.gov
LA  - eng
GR  - ZIA DK075035/ImNIH/Intramural NIH HHS/United States
GR  - ZIA DK075035-03/ImNIH/Intramural NIH HHS/United States
GR  - 1ZIADK075035-03/PHS HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Intramural
PT  - Review
DEP - 20130319
PL  - Switzerland
TA  - Front Horm Res
JT  - Frontiers of hormone research
JID - 0320246
RN  - 0 (JunD protein, human)
RN  - 0 (KMT2A protein, human)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Men1 protein, mouse)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (Proto-Oncogene Proteins c-jun)
RN  - 149025-06-9 (Myeloid-Lymphoid Leukemia Protein)
RN  - EC 2.1.1.43 (Histone-Lysine N-Methyltransferase)
SB  - IM
MH  - Adenoma/genetics
MH  - Adult
MH  - Animals
MH  - Cell Line, Tumor
MH  - Crystallography, X-Ray
MH  - Genes, Tumor Suppressor
MH  - Germ-Line Mutation
MH  - Histone-Lysine N-Methyltransferase
MH  - Humans
MH  - Loss of Heterozygosity
MH  - Mice
MH  - Mice, Knockout
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Myeloid-Lymphoid Leukemia Protein/metabolism
MH  - Parathyroid Neoplasms/etiology
MH  - Proto-Oncogene Proteins/chemistry/*genetics/metabolism
MH  - Proto-Oncogene Proteins c-jun/metabolism
PMC - PMC6281166
MID - NIHMS996873
EDAT- 2013/05/09 06:00
MHDA- 2013/12/18 06:00
PMCR- 2018/12/05
CRDT- 2013/05/09 06:00
PHST- 2013/05/09 06:00 [entrez]
PHST- 2013/05/09 06:00 [pubmed]
PHST- 2013/12/18 06:00 [medline]
PHST- 2018/12/05 00:00 [pmc-release]
AID - 000345666 [pii]
AID - 10.1159/000345666 [doi]
PST - ppublish
SO  - Front Horm Res. 2013;41:1-15. doi: 10.1159/000345666. Epub 2013 Mar 19.