title: Cilia/Ift protein and motor -related bone diseases and mouse models.
abstract: Primary cilia are essential cellular organelles projecting from the cell surface to sense and transduce developmental signaling. They are tiny but have complicated structures containing microtubule (MT)-based internal structures (the axoneme) and mother centriole formed basal body. Intraflagellar transport (Ift) operated by Ift proteins and motors are indispensable for cilia formation and function. Mutations in Ift proteins or Ift motors cause various human diseases, some of which have severe bone defects. Over the last few decades, major advances have occurred in understanding the roles of these proteins and cilia in bone development and remodeling by examining cilia/Ift protein-related human diseases and establishing mouse transgenic models. In this review, we describe current advances in the understanding of the cilia/Ift structure and function. We further summarize cilia/Ift-related human diseases and current mouse models with an emphasis on bone-related phenotypes, cilia morphology, and signaling pathways.
authors.affiliation: Department of Oral Biology, School of Dental Medicine, University at Buffalo, The State University of New York, 3435 Main Street, Buffalo, NY, 14214, USA.
authors.forename: Xue
authors.initials: X
authors.lastname: Yuan
authors.affiliation: Department of Oral Biology, School of Dental Medicine, University at Buffalo, The State University of New York, 3435 Main Street, Buffalo, NY, 14214, USA.
authors.forename: Shuying
authors.initials: S
authors.lastname: Yang
mesh_terms: D000818:Animals; D001847:Bone Diseases / Q000378:metabolism* / Q000503:physiopathology; D002923:Cilia / Q000502:physiology*; D004195:Disease Models, Animal; D006801:Humans; D051379:Mice; D020409:Molecular Motor Proteins / Q000737:chemistry / Q000378:metabolism / Q000502:physiology*; D011487:Protein Conformation
chemical_list: D020409:Molecular Motor Proteins