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Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?
BACKGROUND: Schimke immuno-osseous dysplasia (SIOD) is a multisystemic disorder caused by biallelic mutations in the SWI/SNF-related matrix-associated actin-dependent regulator of chromatin, subfamily A-like 1 (SMARCAL1) gene. Changes in gene expression underlie the arteriosclerosis and T-cell immun...
Autores principales: | Morimoto, Marie, Myung, Clara, Beirnes, Kimberly, Choi, Kunho, Asakura, Yumi, Bokenkamp, Arend, Bonneau, Dominique, Brugnara, Milena, Charrow, Joel, Colin, Estelle, Davis, Amira, Deschenes, Georges, Gentile, Mattia, Giordano, Mario, Gormley, Andrew K., Govender, Rajeshree, Joseph, Mark, Keller, Kory, Lerut, Evelyne, Levtchenko, Elena, Massella, Laura, Mayfield, Christy, Najafian, Behzad, Parham, David, Spranger, Jurgen, Stenzel, Peter, Yis, Uluc, Yu, Zhongxin, Zonana, Jonathan, Hendson, Glenda, Boerkoel, Cornelius F. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097426/ https://www.ncbi.nlm.nih.gov/pubmed/27816064 http://dx.doi.org/10.1186/s13023-016-0519-7 |
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