...Robert E. Van Sciver; Tamara Caspary ABSTRACT Defects in ciliary signaling or mutations in proteins that localize to primary cilia lead to a class of human diseases known as ciliopathies. Approximately 10% of mammalian genes encode cilia-associated proteins, and a major gap in the cilia research...

...Maki Takagishi; Yang Yue; Ryan S. Gray; Kristen J. Verhey; John B. Wallingford ABSTRACT Motile cilia on ependymal cells that line brain ventricular walls beat in concert to generate a flow of laminar cerebrospinal fluid (CSF). Dyneins and kinesins are ATPase microtubule motor proteins that promote...

... of the phenotype became complex with transitory phenotypes that are corrected over time. We also demonstrated that multiple-guide-derived CRISPR/Cas9 F0 ‘crispant’ embryos recapitulate zygotic null phenotypes, and rapidly identified ciliary phenotypes in 11 cilia-associated gene candidates ( ankfn1 , ccdc65...

...Karen I. Lange; Sofia Tsiropoulou; Katarzyna Kucharska; Oliver E. Blacque ABSTRACT Ciliopathies are inherited disorders caused by defects in motile and non-motile (primary) cilia. Ciliopathy syndromes and associated gene variants are often highly pleiotropic and represent exemplars...

...Zakia Abdelhamed; Marshall Lukacs; Sandra Cindric; Heymut Omran; Rolf W. Stottmann ABSTRACT Primary ciliary dyskinesia (PCD) is a human condition of dysfunctional motile cilia characterized by recurrent lung infection, infertility, organ laterality defects and partially penetrant hydrocephalus. We...

... progressive atelectasis after birth with a lethal phenotype. Mutant lungs have multiple defects, including impaired cilia and the absence of mature club cells from the tracheo-bronchial airways, and malformed lamellar bodies in AECIIs. RNA sequencing shows significant activation of a pro-inflammatory pathway...

...Francesco Chiani; Tiziana Orsini; Alessia Gambadoro; Miriam Pasquini; Sabrina Putti; Maurizio Cirilli; Olga Ermakova; Glauco P. Tocchini-Valentini ABSTRACT Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder affecting normal structure and function of motile cilia...