Gain-of-function Variants in SMAD4 compromise Respiratory Epithelial cells
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ABSTRACT: 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.
ORGANISM(S): Homo sapiens
PROVIDER: GSE270668 | GEO | 2024/07/01
REPOSITORIES: GEO
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