Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Human Genetics"
DOI: 10.1038/s10038-018-0559-z
Abstract: Casein kinase 2 (CK2) is a serine threonine kinase ubiquitously expressed in eukaryotic cells and involved in various cellular processes. In recent studies, de novo variants in CSNK2A1 and CSNK2B, which encode the subunits of… read more here.
Keywords: csnk2a1 csnk2b; csnk2b variants; novo variants; identification novo ... See more keywords
Predictive functional, statistical and structural analysis of CSNK2A1 and CSNK2B variants linked to neurodevelopmental diseases
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Molecular Biosciences"
DOI: 10.3389/fmolb.2022.851547
Abstract: Okur-Chung Neurodevelopmental Syndrome (OCNDS) and Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS) were recently identified as rare neurodevelopmental disorders. OCNDS and POBINDS are associated with heterozygous mutations in the CSNK2A1 and CSNK2B genes which encode CK2α, a serine/threonine… read more here.
Keywords: ck2; ck2 ck2; ocnds pobinds; csnk2a1 csnk2b ... See more keywords