Title:
【発明の名称】新生児インスリン依存性糖尿病及び多発性骨端異形成症(ウオルコット-ラリソン症候群)の患者における変異した真核生物の翻訳開始因子2アルファキナーゼ3,EIF2AK3
Document Type and Number:
Japanese Patent JP2003533991
Kind Code:
A
Abstract:
The present invention is directed to isolated variant nucleic sequence of genomic sequence encoding the translation initiation factor 2 alpha kinase 3 (EIF2AK3) capable of inducing the Wolcott-Rallison syndrome (WRS) or affecting the risk of developing diabetes and/or other pathology related to WRS, and to the polypeptide encoded by these sequences. The invention also relates to vectors or transformned cells containing these sequences. The present invention further concerns method and kit for determining in a subject the risk of developing diabetes and/or other pathology related to WRS and method for selecting compound which can be used as medicament for the prevention and/or treatment of these pathologies.
Inventors:
Juliere, Cecil
Delphine, Marc
Nicolino, Marc
Delphine, Marc
Nicolino, Marc
Application Number:
JP2001586567A
Publication Date:
November 18, 2003
Filing Date:
May 23, 2001
Export Citation:
Assignee:
INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (I.N.S.E.R.M.)
Center Nacional de Gennotipage
Center Nacional de Gennotipage
International Classes:
A01K67/027; A61K31/70; A61K38/43; A61K38/45; A61K39/395; A61K45/00; A61K48/00; A61P1/16; A61P3/10; A61P13/12; A61P19/02; A61P19/10; A61P25/18; C07K16/40; C12N1/15; C12N1/19; C12N1/21; C12N5/10; C12N9/12; C12N15/09; C12N15/54; C12P21/08; C12Q1/48; C12Q1/68; G01N33/573; (IPC1-7): C12N15/09; A01K67/027; A61K38/45; A61K39/395; A61K45/00; A61K48/00; A61P1/16; A61P3/10; A61P13/12; A61P19/02; A61P19/10; A61P25/18; C07K16/40; C12N1/15; C12N1/19; C12N1/21; C12N5/10; C12N9/12; C12Q1/48; C12Q1/68
Attorney, Agent or Firm:
Takashima Hajime