Gain-of-function variants in SMAD4 compromise respiratory epithelial function

• Published in: Journal of allergy and clinical immunology Vol. 155; no. 1; pp. 107 - 119.e2
• Main Authors: Lindsay, Mark E., Scimone, Eleanor R., Lawton, Joseph, Richa, Rashmi, Yonker, Lael M., Di, Yuanpu P., Buch, Karen, Ouyang, Wukun, Mo, Xiulei, Lin, Angela E., Mou, Hongmei
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.01.2025
• Subjects: cell proliferation; innate immunity; mucociliary differentiation; Myhre syndrome; nasal epithelial basal cells; SMAD4 mutation; mucociliary differentiation; SMAD4; cell proliferation; BMP; PPI; GST; SPLUNC1; SMAD4 mutation; Myhre syndrome; VF; innate immunity; PAO1; nasal epithelial basal cells; WT; ALI; TR-FRET; GOF

[Display omitted] Myhre syndrome is an exceedingly rare yet increasingly diagnosed genetic disorder arising from germline variants in the SMAD4 gene. Its core manifestation is the progression of stiffness and fibrosis across multiple organs. Individuals with Myhre syndrome exhibit a propensity for u...