Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

<p>Abstract</p> <p>Background</p> <p>Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in <it>SMARCAL1</it> (SWI/SNF-related, matrix-associated, actin-depe...

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Detalhes bibliográficos
Main Authors: Morimoto Marie, Yu Zhongxin, Stenzel Peter, Clewing J, Najafian Behzad, Mayfield Christy, Hendson Glenda, Weinkauf Justin G, Gormley Andrew K, Parham David M, Ponniah Umakumaran, André Jean-Luc, Asakura Yumi, Basiratnia Mitra, Bogdanović Radovan, Bokenkamp Arend, Bonneau Dominique, Buck Anna, Charrow Joel, Cochat Pierre, Cordeiro Isabel, Deschenes Georges, Fenkçi M, Frange Pierre, Fründ Stefan, Fryssira Helen, Guillen-Navarro Encarna, Keller Kory, Kirmani Salman, Kobelka Christine, Lamfers Petra, Levtchenko Elena, Lewis David B, Massella Laura, McLeod D, Milford David V, Nobili François, Saraiva Jorge M, Semerci C, Shoemaker Lawrence, Stajić Nataša, Stein Anja, Taha Doris, Wand Dorothea, Zonana Jonathan, Lücke Thomas, Boerkoel Cornelius F
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2012-09-01
Colecção:Orphanet Journal of Rare Diseases
Assuntos:
Schimke immuno-osseous dysplasia
<it>SMARCAL1</it>
Elastin
Vascular disease
Pulmonary emphysema
Acesso em linha:http://www.ojrd.com/content/7/1/70
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