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| Status |
Public on Apr 28, 2022 |
| Title |
De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
|
| Summary |
Main purpose of the project is to investigate the consequences of de novo CSNK2B variant on transcriptome profiling of the patient compared to control. In this data, we seen differential expression of genes involved in the Wnt signaling pathway and transcription regulator.
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| Overall design |
We propose that the investigated variant disturb the canonical Wnt signaling pathway.
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| |
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| Contributor(s) |
Asif M, Wagle P, Nürnberg P, Hussain MS |
| Citation(s) |
35571680 |
| |
| Submission date |
Nov 18, 2021 |
| Last update date |
May 26, 2022 |
| Contact name |
Muhammad Sajid Hussain |
| E-mail(s) |
mhussain@uni-koeln.de, mhussain@daad-alumni.de
|
| Phone |
+4922147896808
|
| Organization name |
University of Cologne
|
| Department |
Cologne Center for Genomics
|
| Street address |
Weyertal 115b
|
| City |
Cologne |
| ZIP/Postal code |
50931 |
| Country |
Germany |
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| Platforms (1) |
| GPL20301 |
Illumina HiSeq 4000 (Homo sapiens) |
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| Samples (4)
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| Relations |
| BioProject |
PRJNA781446 |
| SRA |
SRP346702 |
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