Art

J-GLOBAL ID：201102249721666989   Reference number：11A0488609

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

SMAD3の変異は若年発生の骨関節炎を伴う大動脈瘤とその破裂よりなる症候群の原因になる

Author (28)： VAN DE LAAR Ingrid M B H (Erasmus Medical Center, Rotterdam, NLD) ,  OLDENBURG Rogier A (Erasmus Medical Center, Rotterdam, NLD) ,  DE GRAAF Bianca M (Erasmus Medical Center, Rotterdam, NLD) ,  VERHAGEN Judith M A (Erasmus Medical Center, Rotterdam, NLD) ,  HOEDEMAEKERS Yvonne M (Erasmus Medical Center, Rotterdam, NLD) ,  WILLEMSEN Rob (Erasmus Medical Center, Rotterdam, NLD) ,  SEVERIJNEN Lies-Anne (Erasmus Medical Center, Rotterdam, NLD) ,  COLLEE Margriet (Erasmus Medical Center, Rotterdam, NLD) ,  MAJOOR-KRAKAUER Danielle (Erasmus Medical Center, Rotterdam, NLD) ,  OOSTRA Ben A (Erasmus Medical Center, Rotterdam, NLD) ,  WESSELS Marja W (Erasmus Medical Center, Rotterdam, NLD) ,  BERTOLI-AVELLA Aida M (Erasmus Medical Center, Rotterdam, NLD) ,  PALS Gerard (Vrije Universiteit Medical Center, Amsterdam, NLD) ,  MICHA Dimitra (Vrije Universiteit Medical Center, Amsterdam, NLD) ,  ROOS-HESSELINK Jolien W (Erasmus Medical Center, Rotterdam, NLD) ,  VENSELAAR Hanka (Radboud Univ. Nijmegen Medical Center, NLD) ,  VRIEND Gert (Radboud Univ. Nijmegen Medical Center, NLD) ,  VENSELAAR Hanka (Center for Molecular and Biomolecular Informatics (CMBI), Nijmegen, NLD) ,  VRIEND Gert (Center for Molecular and Biomolecular Informatics (CMBI), Nijmegen, NLD) ,  PATTYNAMA Peter M (Erasmus Medical Center, Rotterdam, NLD) ,  OEI Edwin H G (Erasmus Medical Center, Rotterdam, NLD) ,  POLDERMANS Don (Erasmus Medical Center, Rotterdam, NLD) ,  FROHN-MULDER Ingrid M E (Erasmus Medical Center, Rotterdam, NLD) ,  TIMMERMANS Janneke (Radboud Univ. Nijmegen Medical Center, NLD) ,  HILHORST-HOFSTEE Yvonne (Leiden Univ. Medical Center, Leiden, NLD) ,  BIERMA-ZEINSTRA Sita M (Erasmus Medical Center, Rotterdam, NLD) ,  WILLEMS Patrick J (GENDIA (GENetic DIAgnostic Network), Antwerp, BEL) ,  KROS Johan M (Erasmus Medical Center, Rotterdam, NLD)
Material： Nature Genetics  (Nat Genet)
Volume： 43  Issue： 2  Page： 121-126  Publication year： Feb. 2011 
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： *gene ,  mutation ,  aortic aneurysm ,  *osteoarthrosis ,  aortic dissection ,  human(primates) ,  autosome ,  gene locus ,  TGF beta ,  complication ,  cellular signal transduction ,  transcription factor
Semi thesaurus term： Smad3 ,  *SMAD3遺伝子 ,  *O/A ,  chromosome 15

JST classification (1)： Genetic variation  (EC01030Y)

Terms in the title (8)： Smad3 ,  変異 ,  若年 ,  骨関節炎 ,  大動脈瘤 ,  破裂 ,  症候群 ,  原因