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Gain-of-function Variants in SMAD4 compromise Respiratory Epithelial cells

GSE270668 Homo sapiens Expression profiling by high throughput sequencing 6 samples Submitted 2024/07/01 Platform GPL16791
Summary
To investigate how SMAD4 mutations associated with Myhre syndrome impact SMAD4 protein levels, activation and physiological functions in patient derived nasal epithelial cells. We derived primary nasal basal stem cells from inferior turbinate brushings of healthy subjects and Myhre syndrome patients (SMAD4-Ile500Val, Arg496Cys, Ile500Thr). After ALI differentiation, RNA was collected from healthy nasal basal epithelial cells and Myhre syndrome-epithelial cells to perform mRNA Deep sequencing. We then performed gene expression profiling analysis using data obtained from RNA-seq.
Published in
Gain-of-function variants in SMAD4 compromise respiratory epithelial function
Lindsay ME, Scimone ER, Lawton J et al. · The Journal of allergy and clinical immunology 2025 · PMID 39243984 · doi:10.1016/j.jaci.2024.08.024
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Also filed as BioProject PRJNA1127656 and SRA study SRP515732. Searching any of these in the dataset finder brings you back here.

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