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… (More)
National Institutes of Health

Papers overview

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Highly Cited
2012
Highly Cited
2012
Nephronophthisis-related ciliopathies (NPHP-RC) are degenerative recessive diseases that affect kidney, retina, and brain… (More)
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Highly Cited
2011
Highly Cited
2011
Soon, the genetic basis of most human Mendelian diseases will be solved. The next challenge will be to leverage this information… (More)
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Highly Cited
2011
Highly Cited
2011
Nephronophthisis (NPHP), Joubert (JBTS), and Meckel-Gruber (MKS) syndromes are autosomal-recessive ciliopathies presenting with… (More)
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Review
2010
Review
2010
Ciliopathies comprise a group of disorders associated with genetic mutations encoding defective proteins, which result in either… (More)
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Highly Cited
2009
Highly Cited
2009
The primary cilium is an antenna-like structure that protrudes from the cell surface of quiescent/differentiated cells and… (More)
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Review
2009
Review
2009
Bardet-Biedl syndrome (BBS) is a multisystemic disorder typified by developmental and progressive degenerative defects. A… (More)
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Review
2007
Review
2007
Defects in the function of cellular organelles such as peroxisomes, lysosomes and mitochondria are well-known causes of human… (More)
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Review
2007
Review
2007
Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, represents the most frequent genetic cause of end-stage… (More)
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Review
2007
Review
2007
While the functions of many of the proteins located in or associated with the photoreceptor cilia are poorly understood… (More)
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Review
2006
Review
2006
Cilia and flagella are ancient, evolutionarily conserved organelles that project from cell surfaces to perform diverse biological… (More)
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