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

Morimoto, Marie; Yu, Zhongxin; Stenzel, Peter; Marietta Clewing, J.; Najafian, Behzad; Mayfield, Christy; Hendson, Glenda; Weinkauf, J.; K. Gormley, Andrew; M. Parham, David; Ponniah, Umakumaran; André, Jean-Luc; Asakura, Yumi; Basiratnia, Mitra; Bogdanović, Radovan; Bökenkamp, Arend; Bonneau, Dominique; Buck, Anna; Charrow, Joel; Cochat, Pierre; Cordeiro, Isabel; Deschênes, Georges; Semin Fenkçi, M; Frange, Pierre; Fründ, Stefan; Fryssira, Helen; Guillén‐Navarro, Encarna; Keller, Kory; Kirmani, Salman; Kobelka, Christine; Lamfers, Petra; Levtchenko, Elena; B. Lewis, David; Massella, Laura; Ross McLeod, D.; V. Milford, David; Nobili, François; Saraiva, Jorge; Nur Semerci, C.; R. Shoemaker, Lawrence; Stajić, Nataša; Stein, Anja; Taha, Doris; Wand, Dorothea; Zonana, Jonathan; Lücke, Thomas; F. Boerkoel, Cornelius

doi:10.1186/1750-1172-7-70

Public

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

Published in Orphanet Journal of Rare Diseases • Sep 22, 2012

Authors:

Marie Morimoto

Zhongxin Yu

Peter Stenzel

Abstract

BACKGROUND: Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1). However, the mechanism by...

Subject

Elastin

Medicine

Arteriosclerosis

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