ID 26954
著者
吉本, 勝彦 Otsuka Department of Molecular Nutrition, The University of Tokushima School of Medicine 徳島大学 教育研究者総覧 KAKEN研究者をさがす
キーワード
MEN1
menin
pituitary tumors
parathyroid tumors
pancreatic endocrine tumors
資料タイプ
学術雑誌論文
抄録
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the combined occurrence of parathyroid, pancreatic endocrine, and anterior pituitary tumors. MEN1 has two characteristics ; a hormone excess and a sometimes lethal outcome due to malignant tumors. The recent identification of the MEN1 gene has opened the door to a much deeper understanding of this syndrome. Germline MEN1 mutations have been identified in most MEN1 families. They were not found, however, in families with familial pituitary tumors. Thus, studies with the MEN1 gene helped to establish that mutation of some other gene(s) is likely causative of the MEN1 phenocopy. These recent advances provide for the identification of mutant MEN1 gene carriers who are at a high risk of developing MEN1. The protein encoded by the MEN1 gene has been shown to function in the regulation of JunD-activated transcription but much still remains to be elucidated.
掲載誌名
The journal of medical investigation : JMI
ISSN
13431420
cat書誌ID
AA11166929
47
3-4
開始ページ
108
終了ページ
117
並び順
108
発行日
2000
備考
EDB ID
71712
フルテキストファイル
言語
eng
部局
歯学系