PMID- 16943588
OWN - NLM
STAT- MEDLINE
DCOM- 20061114
LR  - 20181201
IS  - 1355-008X (Print)
IS  - 1355-008X (Linking)
VI  - 29
IP  - 3
DP  - 2006 Jun
TI  - Expression and functional analysis of menin in a multiple endocrine neoplasia 
      type 1 (MEN1) patient with somatic loss of heterozygosity in chromosome 11q13 and 
      unidentified germline mutation of the MEN1 gene.
PG  - 485-90
AB  - In some patients with multiple endocrine neoplasia type 1 (MEN1) it is not 
      possible to identify a germline mutation in the MEN1 gene. We sought to document 
      the loss of expression and function of the MEN1 gene product, menin, in the 
      tumors of such a patient. The proband is an elderly female patient with primary 
      hyperparathyroidism, pancreatic islet tumor, and breast cancer. Her son has 
      primary hyperparathyroidism. No germline MEN1 mutation was identified in the 
      proband or her son. However, loss of heterozygosity at the MEN1 locus and 
      complete lack of menin expression were demonstrated in the proband's tumor 
      tissue. The proband's cultured parathyroid cells lacked the normal reduction in 
      proliferation and parathyroid hormone secretion in response to transforming 
      growth factor- beta. This assessment provided insight into the molecular 
      pathogenesis of the patient and provides evidence for a critical requirement for 
      menin in the antiproliferative action of transforming growth factor-beta.
FAU - Naito, Junko
AU  - Naito J
AD  - Division of Endocrinology/Metabolism, Neurology and Hematology/Oncology, 
      Department of Clinical Molecular Medicine, Kobe University Graduate School of 
      Medicine, Japan.
FAU - Kaji, Hiroshi
AU  - Kaji H
FAU - Sowa, Hideaki
AU  - Sowa H
FAU - Kitazawa, Riko
AU  - Kitazawa R
FAU - Kitazawa, Sohei
AU  - Kitazawa S
FAU - Tsukada, Toshihiko
AU  - Tsukada T
FAU - Hendy, Geoffrey N
AU  - Hendy GN
FAU - Sugimoto, Toshitsugu
AU  - Sugimoto T
FAU - Chihara, Kazuo
AU  - Chihara K
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Endocrine
JT  - Endocrine
JID - 9434444
RN  - 0 (MEN1 protein, human)
RN  - 0 (Parathyroid Hormone)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (Transforming Growth Factor beta)
SB  - IM
MH  - Aged
MH  - *Chromosomes, Human, Pair 11
MH  - Female
MH  - Germ-Line Mutation/*physiology
MH  - Humans
MH  - Hypercalcemia/etiology
MH  - Hyperthyroidism/diagnosis/genetics
MH  - Liver Neoplasms/diagnosis
MH  - *Loss of Heterozygosity
MH  - Microsatellite Repeats
MH  - Multiple Endocrine Neoplasia Type 1/*genetics/*metabolism/pathology/secondary
MH  - Parathyroid Hormone/metabolism
MH  - Parathyroid Neoplasms/metabolism/pathology
MH  - Polymorphism, Genetic
MH  - Proto-Oncogene Proteins/*genetics/*metabolism/physiology
MH  - Transforming Growth Factor beta/metabolism
MH  - Tumor Cells, Cultured
EDAT- 2006/09/01 09:00
MHDA- 2006/11/15 09:00
CRDT- 2006/09/01 09:00
PHST- 2006/02/10 00:00 [received]
PHST- 2006/03/02 00:00 [revised]
PHST- 2006/03/17 00:00 [accepted]
PHST- 2006/09/01 09:00 [pubmed]
PHST- 2006/11/15 09:00 [medline]
PHST- 2006/09/01 09:00 [entrez]
AID - ENDO:29:3:485 [pii]
AID - 10.1385/ENDO:29:3:485 [doi]
PST - ppublish
SO  - Endocrine. 2006 Jun;29(3):485-90. doi: 10.1385/ENDO:29:3:485.