Gregory Costain, Zhen Liu, Vito Mennella, Giorgia Radicioni, Adrienn N Goczi, Alexandra Albulescu, Susan Walker, Bo Ngan, David Manson, Reza Vali, Meraj Khan, Nades Palaniyar, David B Hill, David A Hall, Christian R Marshall, Michael Knowles, Maimoona A Zariwala, Mehmet Kesimer, Sharon D Dell
RATIONALE: Mucin homeostasis is fundamental to airway health. Upregulation of airway mucus glycoprotein MUC5B is observed in diverse common lung diseases and represents a potential therapeutic target. In mice, Muc5b is required for mucociliary clearance and for controlling inflammation following microbial exposure. The consequences of its loss in humans are unclear. OBJECTIVES: The goal of this study was to identify and characterize a family with congenital absence of MUC5B protein...
January 13, 2022: American Journal of Respiratory and Critical Care Medicine