Genes and molecular pathways underpinning ciliopathies

JF Reiter, MR Leroux - Nature reviews Molecular cell biology, 2017 - nature.com
Motile and non-motile (primary) cilia are nearly ubiquitous cellular organelles. The
dysfunction of cilia causes diseases known as ciliopathies. The number of reported …

Hydrocephalus in children

KT Kahle, AV Kulkarni, DD Limbrick, BC Warf - The lancet, 2016 - thelancet.com
Hydrocephalus is a common disorder of cerebral spinal fluid (CSF) physiology resulting in
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 …

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 …

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 …

Leptin signalling pathways in hypothalamic neurons

O Kwon, KW Kim, MS Kim - Cellular and Molecular Life Sciences, 2016 - Springer
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 …

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 …

Emerging principles of primary cilia dynamics in controlling tissue organization and function

J Gopalakrishnan, K Feistel, BM Friedrich… - The EMBO …, 2023 - embopress.org
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 …

Joubert Syndrome and related disorders

F Brancati, B Dallapiccola, EM Valente - Orphanet journal of rare diseases, 2010 - Springer
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 …

[HTML][HTML] The vertebrate primary cilium in development, homeostasis, and disease

JM Gerdes, EE Davis, N Katsanis - Cell, 2009 - cell.com
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 …