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Genes and molecular pathways underpinning ciliopathies
Motile and non-motile (primary) cilia are nearly ubiquitous cellular organelles. The
dysfunction of cilia causes diseases known as ciliopathies. The number of reported …
dysfunction of cilia causes diseases known as ciliopathies. The number of reported …
Hydrocephalus in children
Hydrocephalus is a common disorder of cerebral spinal fluid (CSF) physiology resulting in
abnormal expansion of the cerebral ventricles. Infants commonly present with progressive …
abnormal expansion of the cerebral ventricles. Infants commonly present with progressive …
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 …
Leptin signalling pathways in hypothalamic neurons
Leptin is the most critical hormone in the homeostatic regulation of energy balance among
those so far discovered. Leptin primarily acts on the neurons of the mediobasal part of …
those so far discovered. Leptin primarily acts on the neurons of the mediobasal part of …
When cilia go bad: cilia defects and ciliopathies
M Fliegauf, T Benzing, H Omran - Nature reviews Molecular cell biology, 2007 - nature.com
Defects in the function of cellular organelles such as peroxisomes, lysosomes and
mitochondria are well-known causes of human diseases. Recently, another organelle has …
mitochondria are well-known causes of human diseases. Recently, another organelle has …
Emerging principles of primary cilia dynamics in controlling tissue organization and function
Primary cilia project from the surface of most vertebrate cells and are key in sensing
extracellular signals and locally transducing this information into a cellular response. Recent …
extracellular signals and locally transducing this information into a cellular response. Recent …
Joubert Syndrome and related disorders
Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental
delay/multiple congenital anomalies syndromes in which the obligatory hallmark is the molar …
delay/multiple congenital anomalies syndromes in which the obligatory hallmark is the molar …
[HTML][HTML] The vertebrate primary cilium in development, homeostasis, and disease
Cilia are complex structures that have garnered interest because of their roles in vertebrate
development and their involvement in human genetic disorders. In contrast to multicellular …
development and their involvement in human genetic disorders. In contrast to multicellular …