Deficiency of smarcal1 causes cell cycle arrest and developmental abnormalities in zebrafish.


Mutations in SMARCAL1 cause Schimke Immuno-Osseous Dysplasia (SIOD), an autosomal recessive multisystem developmental disease characterized by growth retardation, T-cell deficiency, bone marrow failure, anemia and renal failure. SMARCAL1 encodes an ATP-driven annealing helicase. However, the biological function of SMARCAL1 and the molecular basis of SIOD… (More)
DOI: 10.1016/j.ydbio.2009.12.018


9 Figures and Tables