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...

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שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Orphanet J Rare Dis
Main Authors: 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.
פורמט: Artigo
שפה:Inglês
יצא לאור: BioMed Central 2016
נושאים:
Research
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC5097426/
https://ncbi.nlm.nih.gov/pubmed/27816064
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0519-7
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