{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Rigter PMF"],"funding":["Dutch Research Council (NWO)","NIGMS NIH HHS"],"pagination":["364-382"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10870144"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["111(2)"],"pubmed_abstract":["The calcium/calmodulin-dependent protein kinase type 2 (CAMK2) family consists of four different isozymes, encoded by four different genes-CAMK2A, CAMK2B, CAMK2G, and CAMK2D-of which the first three have been associated recently with neurodevelopmental disorders. CAMK2D is one of the major CAMK2 proteins expressed in the heart and has been associated with cardiac anomalies. Although this CAMK2 isoform is also known to be one of the major CAMK2 subtypes expressed during early brain development, it has never been linked with neurodevelopmental disorders until now. Here we show that CAMK2D plays an important role in neurodevelopment not only in mice but also in humans. We identified eight individuals harboring heterozygous variants in CAMK2D who display symptoms of intellectual disability, de"],"journal":["American journal of human genetics"],"pubmed_title":["Role of CAMK2D in neurodevelopment and associated conditions."],"pmcid":["PMC10870144"],"funding_grant_id":["016.Vidi.188.014","R35 GM145376"],"pubmed_authors":["Hsieh TC","Blevins A","Conway J","Rosenfeld JA","McKenzie F","de Konink C","Weaver KN","Calamaro E","Rigter PMF","Veenma DCM","Proietti Onori M","Hordijk E","Stark Z","Thomas M","Krawitz PM","Polonia S","Mercier S","Stratton MM","Prada CE","Wentzensen IM","Xia F","Caluseriu O","Meuwissen M","Poulton C","Schulman H","Dunn MJ","Bupp CP","Kury S","Bezieau S","Humberson JB","Beysen D","Bhoj E","van Woerden GM","Jonkers CN","Anderson L","Fong CT","Wuyts W","Yuseinova B","Savva E","Barnes C","Elbracht M","Ryan TD"],"additional_accession":[]},"is_claimable":false,"name":"Role of CAMK2D in neurodevelopment and associated conditions.","description":"The calcium/calmodulin-dependent protein kinase type 2 (CAMK2) family consists of four different isozymes, encoded by four different genes-CAMK2A, CAMK2B, CAMK2G, and CAMK2D-of which the first three have been associated recently with neurodevelopmental disorders. CAMK2D is one of the major CAMK2 proteins expressed in the heart and has been associated with cardiac anomalies. Although this CAMK2 isoform is also known to be one of the major CAMK2 subtypes expressed during early brain development, it has never been linked with neurodevelopmental disorders until now. Here we show that CAMK2D plays an important role in neurodevelopment not only in mice but also in humans. We identified eight individuals harboring heterozygous variants in CAMK2D who display symptoms of intellectual disability, de","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Feb","modification":"2026-06-01T16:20:38.398Z","creation":"2025-04-19T07:07:45.043Z"},"accession":"S-EPMC10870144","cross_references":{"pubmed":["38272033"],"doi":["10.1016/j.ajhg.2023.12.016"]}}