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De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

ABSTRACT: Main purpose of the project is to delineate the consequences of de novo variants identified in patients manifesting intellectual disability-craniodigital syndrome. By employing pulldown assay coupled with mass spectrometry, we investigated the novel binding partners of CK2β and tried to find the impaired interaction due to variant, CK2β:NP_001311.3;p.Asp32His. Furthermore, we also investigated the effects of mutated CK2β by performing phosphoproteome profiling of patient derived LCLs along with the age and gender matched control.

INSTRUMENT(S): Q Exactive

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Cervical Cell Line

DISEASE(S): Syndromic Intellectual Disability

SUBMITTER: Prerana Wagle

LAB HEAD: Muhammad Sajid Hussain

PROVIDER: PXD029970 | Pride | 2022-05-04

REPOSITORIES: Pride

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De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

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