Dataset Information


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.


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


Similar Datasets

2017-03-21 | PXD005878 | Pride
2022-08-16 | PXD030448 | Pride
2011-10-28 | E-GEOD-30989 | ArrayExpress
2011-10-28 | E-GEOD-30991 | ArrayExpress
2022-05-04 | PXD029983 | Pride
2011-09-14 | E-GEOD-31007 | ArrayExpress
2020-01-23 | PXD016681 | Pride
2022-03-23 | PXD027010 | Pride
2018-01-30 | PXD008230 | Pride
2020-02-17 | PXD014226 | Pride