Abstract Mechanisms to maintain telomere length over successive cell divisions are a requirement for cancer immortalization. Although many cancers through the activation of telomerase, ~10-15% human use telomerase-independent mechanisms maintenance, termed Alternative Lengthening Telomeres (ALT). In gliomas, ALT phenotype is associated with loss-of-function mutations in ATRX gene IDH-mutant ast...

Background: Schimke immuno-osseous dysplasia (SIOD, OMIM 242900) is a rare, autosomal recessive, pleiotropic disease caused by mutations in the SMARCAL1 gene. SIOD characterized triad of symptoms, i.e., progressive kidney due to focal segmen- tal glomerulosclerosis (FSGS), spondyloepiphyseal and T-cell immunodeficiency. Additionally, heterogeneous neurological symptoms are often observed course...