title: The emerging face of primary cilia.
abstract: Primary cilia are microtubule-based organelles that serve as hubs for the transduction of various developmental signaling pathways including Hedgehog, Wnt, FGF, and PDGF. Ciliary dysfunction contributes to a range of disorders, collectively known as the ciliopathies. Recently, interest has grown in these syndromes, particularly among craniofacial biologists, as many known and putative ciliopathies have severe craniofacial defects. Herein we discuss the current understanding of ciliary biology and craniofacial development in an attempt to gain insight into the molecular etiology for craniofacial ciliopathies, and uncover a characteristic ciliopathic craniofacial gestalt.
authors.affiliation: Department of Medicine, Division of Endocrinology, Diabetes, and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland, USA.
authors.forename: Norann A
authors.initials: NA
authors.lastname: Zaghloul
authors.forename: Samantha A
authors.initials: SA
authors.lastname: Brugmann
mesh_terms: D002923:Cilia / Q000473:pathology / Q000502:physiology*; D019465:Craniofacial Abnormalities / Q000209:etiology* / Q000473:pathology*; D004475:Ectoderm / Q000196:embryology; D005346:Fibroblast Growth Factors / Q000378:metabolism; D053823:Hedgehog Proteins / Q000378:metabolism; D006801:Humans; D008445:Maxillofacial Development / Q000502:physiology*; D009432:Neural Crest / Q000502:physiology; D054258:Neural Plate / Q000196:embryology; D010641:Phenotype; D010982:Platelet-Derived Growth Factor / Q000378:metabolism; D015398:Signal Transduction / Q000502:physiology*; D012886:Skull / Q000196:embryology*; D051153:Wnt Proteins / Q000378:metabolism
chemical_list: D053823:Hedgehog Proteins; D010982:Platelet-Derived Growth Factor; D051153:Wnt Proteins; D005346:Fibroblast Growth Factors