Richard J B Francis, Jovenal T San Agustin, Heather L Szabo Rogers, Cheng Cui, Julie A Jonassen, Thibaut Eguether, John A Follit, Cecilia W Lo, Gregory J Pazour
Ciliopathies are associated with wide spectrum of structural birth defects (SBDs), indicating important roles for cilia in development. Here, we provide novel insights into the temporospatial requirement for cilia in SBDs arising from deficiency in Ift140, an intraflagellar transport (IFT) protein regulating ciliogenesis. Ift140-deficient mice exhibit cilia defects accompanied by wide spectrum of SBDs including macrostomia (craniofacial defects), exencephaly, body wall defects, tracheoesophageal fistula (TEF), randomized heart looping, congenital heart defects (CHDs), lung hypoplasia, renal anomalies, and polydactyly...
December 11, 2023: PLoS Biology