Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?
- 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
Publication date
November 2016
DOI Publisher
Springer Science and Business Media LLC Journal
Orphanet Journal of Rare DiseasesAbstract
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 immunodeficiency of SIOD; therefore, we hypothesized that SMARCAL1 deficiency causes the focal segmental glomerulosclerosis (FSGS) of SIOD by altering renal gene expression. We tested this hypothesis by gene expression analysis of an SIOD patient kidney and verified these findings through immunofluorescent analysis in additional SIOD patients and a genetic interaction analysis in Drosophila.status: publishe
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