Ontology highlight
ABSTRACT:
SUBMITTER: Massa F
PROVIDER: S-EPMC6381316 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
Massa Filomena F Tammaro Roberta R Prado Miguel A MA Cesana Marcella M Lee Byung-Hoon BH Finley Daniel D Franco Brunella B Morleo Manuela M
Human molecular genetics 20190301 5
Primary cilia are hair-like organelles that play crucial roles in vertebrate development, organogenesis and when dysfunctional result in pleiotropic human genetic disorders called ciliopathies, characterized by overlapping phenotypes, such as renal and hepatic cysts, skeletal defects, retinal degeneration and central nervous system malformations. Primary cilia act as communication hubs to transfer extracellular signals into intracellular responses and are essential for Hedgehog (Hh) signal trans ...[more]