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Primary cilia as dynamic and diverse signalling hubs in development and disease
Primary cilia, antenna-like sensory organelles protruding from the surface of most vertebrate
cell types, are essential for regulating signalling pathways during development and adult …
cell types, are essential for regulating signalling pathways during development and adult …
Signaling through the primary cilium
The presence of single, non-motile “primary” cilia on the surface of epithelial cells has been
well described since the 1960s. However, for decades these organelles were believed to be …
well described since the 1960s. However, for decades these organelles were believed to be …
[HTML][HTML] Ciliopathies and the kidney: a review
Primary cilia are specialized sensory organelles that protrude from the apical surface of most
cell types. Over the past two decades, they have been found to play important roles in tissue …
cell types. Over the past two decades, they have been found to play important roles in tissue …
Primary cilia and mammalian hedgehog signaling
F Bangs, KV Anderson - Cold Spring Harbor …, 2017 - cshperspectives.cshlp.org
It has been a decade since it was discovered that primary cilia have an essential role in
Hedgehog (Hh) signaling in mammals. This discovery came from screens in the mouse that …
Hedgehog (Hh) signaling in mammals. This discovery came from screens in the mouse that …
Motile and non‐motile cilia in human pathology: from function to phenotypes
Ciliopathies are inherited human disorders caused by both motile and non‐motile cilia
dysfunction that form an important and rapidly expanding disease category. Ciliopathies are …
dysfunction that form an important and rapidly expanding disease category. Ciliopathies are …
Ciliopathies
DA Braun, F Hildebrandt - Cold Spring Harbor …, 2017 - cshperspectives.cshlp.org
Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited diseases that
affect genes encoding proteins that localize to primary cilia or centrosomes. With few …
affect genes encoding proteins that localize to primary cilia or centrosomes. With few …
Ciliopathies
F Hildebrandt, T Benzing… - New England Journal of …, 2011 - Mass Medical Soc
Ciliopathies | New England Journal of Medicine Skip to main content The New England Journal
of Medicine homepage Advanced Search SEARCH SPECIALTIES Cardiology Clinical Medicine …
of Medicine homepage Advanced Search SEARCH SPECIALTIES Cardiology Clinical Medicine …
Primary cilia signaling in astrocytes mediates development and regional-specific functional specification
L Wang, Q Guo, S Acharya, X Zheng, V Huynh… - Nature …, 2024 - nature.com
Astrocyte diversity is greatly influenced by local environmental modulation. Here we report
that the majority of astrocytes across the mouse brain possess a singular primary cilium …
that the majority of astrocytes across the mouse brain possess a singular primary cilium …
The primary cilium: a signalling centre during vertebrate development
SC Goetz, KV Anderson - Nature reviews genetics, 2010 - nature.com
The primary cilium has recently stepped into the spotlight, as a flood of data show that this
organelle has crucial roles in vertebrate development and human genetic diseases. Cilia …
organelle has crucial roles in vertebrate development and human genetic diseases. Cilia …
Genotype–phenotype correlates in Joubert syndrome: A review
Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a
pathognomonic cerebellar and brainstem malformation, the “molar tooth sign,” and variable …
pathognomonic cerebellar and brainstem malformation, the “molar tooth sign,” and variable …