2 documents found, page 1 of 1
Editorial: The cytoskeleton and cellular compartmentation: Cilia as specialized...
Garcia-Gonzalo, Francesc R.; Soares, Helena; Lopes, Susana S.; Inoue, TakanariCilia are fascinating microtubule-based compartments that project from the cell surface. Cilia can be functionally classified as motile (generating cell movement or fluid flow) or immotile (primary cilia, which transduce mechanical, optical, or chemical signals through a variety of pathways, such as Hedgehog, GPCR, Notch, Wnt, Hippo, mTOR, PDGFR, or TGFβ. Structurally, cilia are composed of a microtubule shaft ...
Primary ciliary dyskinesia due to CCNO mutations : a genotype‐phenotype correla...
Henriques, Ana Raquel; Constant, Carolina; Descalço, Andreia; Pinto, Andreia; Moura Nunes, J.; Sampaio, Pedro; Lopes, Susana S.; Pereira, LuísaPrimary ciliary dyskinesia (PCD) is genetically and clinically heterogeneous. CCNO mutations are associated with chronic destructive lung disease and were first described in 2014. Early reports suggest that CCNO is mutated more frequently than expected, however, these are considered rare. We report on three eleven-year-old children with PCD due to CCNO mutations. All children presented early-onset respiratory s...