Art

J-GLOBAL ID：201202246891312110   Reference number：12A1194630

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

TGF-β:TGFB2の機能喪失変異によって胸部大動脈瘤の症状を呈するようになる

Author (31)： LINDSAY Mark E (Johns Hopkins Univ. School of Medicine, Maryland, USA) ,  DIETZ Harry C (Johns Hopkins Univ. School of Medicine, Maryland, USA) ,  LINDSAY Mark E (Howard Hughes Medical Inst., Maryland, USA) ,  DIETZ Harry C (Howard Hughes Medical Inst., Maryland, USA) ,  DOYLE Jefferson J (Johns Hopkins Univ. School of Medicine, Maryland, USA) ,  GALLO Elena (Johns Hopkins Univ. School of Medicine, Maryland, USA) ,  CHEN Yichun (Johns Hopkins Univ. School of Medicine, Maryland, USA) ,  MYERS Loretha (Johns Hopkins Univ. School of Medicine, Maryland, USA) ,  BJEDA Djahita (Johns Hopkins Univ. School of Medicine, Maryland, USA) ,  OSWALD Gretchen (Johns Hopkins Univ. School of Medicine, Maryland, USA) ,  ELIAS Abdallah F (Johns Hopkins Univ. School of Medicine, Maryland, USA) ,  LEVY Howard P (Johns Hopkins Univ. School of Medicine, Maryland, USA) ,  SCHEPERS Dorien (Univ. Antwerp, Antwerp, BEL) ,  BOLAR Nikhita Ajit (Univ. Antwerp, Antwerp, BEL) ,  MORTIER Geert R (Univ. Antwerp, Antwerp, BEL) ,  LAER Lut Van (Univ. Antwerp, Antwerp, BEL) ,  LOEYS Bart L (Univ. Antwerp, Antwerp, BEL) ,  FERT-BOBER Justyna (Johns Hopkins Univ., Maryland, USA) ,  Van EYK Jennifer (Johns Hopkins Univ., Maryland, USA) ,  KEMPERS Marlies J E (Radboud Univ. Nijmegen Medical Centre, Nijmegen, NLD) ,  Ernie M H F Bongers (Radboud Univ. Nijmegen Medical Centre, Nijmegen, NLD) ,  BRUNNER Han G (Radboud Univ. Nijmegen Medical Centre, Nijmegen, NLD) ,  LOEYS Bart L (Radboud Univ. Nijmegen Medical Centre, Nijmegen, NLD) ,  FISHMAN Elliot K (Johns Hopkins Univ. School of Medicine, Maryland, USA) ,  ANDERLID Britt-Marie (Karolinska Inst., Stockholm, SWE) ,  YANG Margaret H (Univ. Washington School of Medicine, Washington, USA) ,  BYERS Peter H (Univ. Washington School of Medicine, Washington, USA) ,  TIMMERMANS Janneke (Radboud Univ. Nijmegen Medical Centre, Nijmegen, NLD) ,  BRAVERMAN Alan C (Washington Univ. School of Medicine, Missouri, USA) ,  CANHAM Natalie (Northwick Park Hospital, Harrow, GBR) ,  LOEYS Bart L (Ghent Univ., Ghent, BEL)
Material： Nature Genetics  (Nat Genet)
Volume： 44  Issue： 8  Page： 922-927  Publication year： Aug. 2012 
JST Material Number： W0430A  ISSN： 1061-4036  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,  gene ,  *aortic aneurysm ,  gene dosage effect ,  *hereditary disease ,  TGF beta ,  knockout mouse ,  cellular signal transduction
Semi thesaurus term： *Loeys-Dietz Syndrome ,  *TGFB2遺伝子 ,  Transforming Growth Factor beta2 ,  Haploinsufficiency ,  *Aortic Aneurysm, Thoracic

JST classification (1)： Genetic variation  (EC01030Y)

Terms in the title (4)： TGF-β ,  機能喪失変異 ,  胸部大動脈瘤 ,  症状