|
Status |
Public on Sep 27, 2023 |
Title |
Distinct spectrum of ciliopathic diseases results from de novoTUBB4B variants through differential effects on organelle-specific microtubules |
Organism |
Homo sapiens |
Experiment type |
Expression profiling by high throughput sequencing
|
Summary |
We establish a necessary and non-redundant function for TUBB4B in building centrioles and axonemes of multiciliated cells placing ciliopathies more broadly into human tubulinopathies.
|
|
|
Overall design |
RNA-seq data of primary cultured nasal epithelial cells from biopsies of controls and patients carrying p.P259L and pP358S variants of TUBB4B
|
|
|
Contributor(s) |
Yeyati P, Grimes G |
Citation(s) |
38662826 |
|
Submission date |
Sep 23, 2022 |
Last update date |
Aug 09, 2024 |
Contact name |
Graeme Richard Grimes |
E-mail(s) |
graeme.grimes@ed.ac.uk
|
Organization name |
University of Edinburgh, The Institute of Genetics and Cancer
|
Department |
Human Genetics Unit
|
Lab |
Bioinformatics Analysis Core
|
Street address |
Western General Hospital, Crewe Road
|
City |
Edinburgh |
ZIP/Postal code |
EH4 2XU |
Country |
United Kingdom |
|
|
Platforms (1) |
|
Samples (12)
|
|
Relations |
BioProject |
PRJNA883709 |