[HTML][HTML] The ciliary transition zone: finding the pieces and assembling the gate
J Gonçalves, L Pelletier - Molecules and cells, 2017 - Elsevier
Eukaryotic cilia are organelles that project from the surface of cells to fulfill motility and
sensory functions. In vertebrates, the functions of both motile and immotile cilia are critical for …
sensory functions. In vertebrates, the functions of both motile and immotile cilia are critical for …
Chapter two intraflagellar transport (IFT): role in ciliary assembly, resorption and signalling
LB Pedersen, JL Rosenbaum - Current topics in developmental biology, 2008 - Elsevier
Cilia and flagella have attracted tremendous attention in recent years as research
demonstrated crucial roles for these organelles in coordinating a number of physiologically …
demonstrated crucial roles for these organelles in coordinating a number of physiologically …
Making sense of cilia in disease: the human ciliopathies
K Baker, PL Beales - American journal of medical genetics part …, 2009 - Wiley Online Library
Ubiquitous in nature, cilia and flagella comprise nearly identical structures with similar
functions. The most obvious example of the latter is motility: driving movement of the …
functions. The most obvious example of the latter is motility: driving movement of the …
Cilia and developmental signaling
JT Eggenschwiler, KV Anderson - Annu. Rev. Cell Dev. Biol., 2007 - annualreviews.org
Recent studies have revealed unexpected connections between the mammalian Hedgehog
(Hh) signal transduction pathway and the primary cilium, a microtubule-based organelle that …
(Hh) signal transduction pathway and the primary cilium, a microtubule-based organelle that …
Primary cilia, ciliogenesis and the actin cytoskeleton: a little less resorption, a little more actin please
CEL Smith, AVR Lake, CA Johnson - Frontiers in cell and …, 2020 - frontiersin.org
Primary cilia are microtubule-based organelles that extend from the apical surface of most
mammalian cells, forming when the basal body (derived from the mother centriole) docks at …
mammalian cells, forming when the basal body (derived from the mother centriole) docks at …
Regulating the transition from centriole to basal body
T Kobayashi, BD Dynlacht - Journal of Cell Biology, 2011 - rupress.org
The role of centrioles changes as a function of the cell cycle. Centrioles promote formation of
spindle poles in mitosis and act as basal bodies to assemble primary cilia in interphase …
spindle poles in mitosis and act as basal bodies to assemble primary cilia in interphase …
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
M Delous, L Baala, R Salomon, C Laclef, J Vierkotten… - Nature …, 2007 - nature.com
Cerebello-oculo-renal syndrome (CORS), also called Joubert syndrome type B, and Meckel
(MKS) syndrome belong to the group of developmental autosomal recessive disorders that …
(MKS) syndrome belong to the group of developmental autosomal recessive disorders that …
Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy
NA Zaghloul, N Katsanis - The Journal of clinical …, 2009 - Am Soc Clin Investig
Bardet-Biedl syndrome (BBS) is a multisystemic disorder typified by developmental and
progressive degenerative defects. A combination of genetic, in vitro, and in vivo studies have …
progressive degenerative defects. A combination of genetic, in vitro, and in vivo studies have …
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
CC Leitch, NA Zaghloul, EE Davis, C Stoetzel… - Nature …, 2008 - nature.com
Meckel-Gruber syndrome (MKS) is a genetically heterogeneous, neonatally lethal
malformation and the most common form of syndromic neural tube defect (NTD). To date …
malformation and the most common form of syndromic neural tube defect (NTD). To date …
Clinical and molecular features of Joubert syndrome and related disorders
MA Parisi - American Journal of Medical Genetics Part C …, 2009 - Wiley Online Library
Abstract Joubert syndrome (JBTS; OMIM 213300) is a rare, autosomal recessive disorder
characterized by a specific congenital malformation of the hindbrain and a broad spectrum …
characterized by a specific congenital malformation of the hindbrain and a broad spectrum …