title: Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development.
abstract: The ciliopathies are a group of related inherited diseases characterized by malformations in organ development. The diseases affect multiple organ systems, with kidney, skeleton, and brain malformations frequently observed. Research over the last decade has revealed that these diseases are due to defects in primary cilia, essential sensory organelles found on most cells in the human body. Here we discuss the genetic and cell biological basis of one of the most severe ciliopathies, Meckel-Gruber syndrome, and explain how primary cilia contribute to the development of the affected organ systems.
authors: College of Life and Environmental Sciences; University of Exeter; Exeter, UK.
authors: Amy R
authors: AR
authors: Barker
authors: College of Life and Environmental Sciences; University of Exeter; Exeter, UK.
authors: Rhys
authors: R
authors: Thomas
authors: College of Life and Environmental Sciences; University of Exeter; Exeter, UK.
authors: Helen R
authors: HR
authors: Dawe
mesh_terms: D001842:Bone and Bones / Q000166:cytology / Q000196:embryology*; D002490:Central Nervous System / Q000166:cytology / Q000196:embryology*; D002923:Cilia / Q000378:metabolism*; D002925:Ciliary Motility Disorders / Q000503:physiopathology*; D004677:Encephalocele / Q000503:physiopathology*; D006801:Humans; D007668:Kidney / Q000166:cytology / Q000201:enzymology*; D007674:Kidney Diseases / Q000503:physiopathology; D007690:Polycystic Kidney Diseases / Q000503:physiopathology*; D012174:Retinitis Pigmentosa
keywords: Hedgehog; Joubert syndrome; Meckel-Gruber syndrome; Wnt; brain; cilia; ciliopathy; kidney; nephronophthisis; signalling; skeleton