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| Status |
Public on Apr 30, 2024 |
| Title |
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
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| Summary |
Main purpose of the project is to investigate the consequences of loss-of-function variants of ZFTRAF1 on transcriptome profiling of the patient compared to control. In this data, we seen differential expression of genes involved in the autophagy and mRNA processing.
To identify the globally dysregulated expression of genes, we performed tbul transcriptome profiling from RNA-seq of 2 different patient samples along with three controls.
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| Overall design |
Whole-transcritome profiling analysis for human primary fibroblast cells derived from syndromic microcephaly patients and control.
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| Contributor(s) |
Hussain MS, Asif M |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
| |
| Submission date |
Apr 03, 2023 |
| Last update date |
Apr 30, 2024 |
| Contact name |
Muhammad Sajid Hussain |
| E-mail(s) |
mhussain@uni-koeln.de, mhussain@daad-alumni.de
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| Phone |
+4922147896808
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| Organization name |
University of Cologne
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| Department |
Cologne Center for Genomics
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| Street address |
Weyertal 115b
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| 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 (9)
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| Relations |
| BioProject |
PRJNA951710 |
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