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Ciliopathies

Known as: Ciliopathies [Disease/Finding], Ciliopathy 
Genetic disorders caused by defects in genes related to the primary CILIUM; BASAL BODY; or CENTROSOME. Obesity, SKELETAL DYSPLASIA and POLYDACTYLY… 
National Institutes of Health

Related topics

Related topics

7 relations
Ciliary Motility DisordersIn BloodMicrobiologicalchemically induced

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
A familial case of severe infantile nephronophthisis explained by oligogenic inheritance.
Review
2016
Review
2016
Permeability barriers for generating a unique ciliary protein and lipid composition.
Review
2014
Review
2014
Usher syndrome protein network functions in the retina and their relation to other retinal ciliopathies.
The human Usher syndrome (USH) is the most frequent cause of combined hereditary deaf-blindness. USH is genetically and… 
Review
2013
Review
2013
Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG
The congenital disorder of glycosylation, PMM2-CDG, is associated with progressive photoreceptor degeneration, which causes a… 
2013
2013
The Ciliary Protein Ftm Is Required for Ventricular Wall and Septal Development
Ventricular septal defects (VSDs) are the most common congenital heart defects in humans. Despite several studies of the… 
2011
2011
Co-occurrence of Distinct Ciliopathy Diseases in Single Families Suggests Genetic Modifiers
Disorders within the “ciliopathy” spectrum include Joubert (JS), Bardet–Biedl syndromes (BBS), and nephronophthisis (NPHP… 
2010
2010
Septins at the Nexus
The ability of a cytoskeletal protein to prevent membrane protein diffusion is important for cilia formation and maintenance… 
2009
2009
Cranioectodermal dysplasia: A probable ciliopathy
Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive genetic disorder… 
Highly Cited
2009
Highly Cited
2009
Characterization of primary cilia in human airway smooth muscle cells.
BACKGROUND Considerable evidence indicates a key role for primary cilia of mammalian cells in mechanochemical sensing… 
1994
1994
Respiratory Disease in Children: Diagnosis and Management
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