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
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Ciliopathies: an expanding disease spectrum
AM Waters, PL Beales - Pediatric nephrology, 2011 - Springer
Ciliopathies comprise a group of disorders associated with genetic mutations encoding
defective proteins, which result in either abnormal formation or function of cilia. As cilia are a …
defective proteins, which result in either abnormal formation or function of cilia. As cilia are a …
Renal plasticity revealed through reversal of polycystic kidney disease in mice
Initiation of cyst formation in autosomal dominant polycystic kidney disease (ADPKD) occurs
when kidney tubule cells are rendered null for either PKD1 or PKD2 by somatic 'second …
when kidney tubule cells are rendered null for either PKD1 or PKD2 by somatic 'second …
Autosomal dominant polycystic kidney disease
VE Torres, PC Harris, Y Pirson - The Lancet, 2007 - thelancet.com
Autosomal dominant polycystic kidney disease is the most prevalent, potentially lethal,
monogenic disorder. It is associated with large interfamilial and intrafamilial variability, which …
monogenic disorder. It is associated with large interfamilial and intrafamilial variability, which …
Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease
PC Harris, VE Torres - The Journal of clinical investigation, 2014 - Am Soc Clin Investig
Recent advances in defining the genetic mechanisms of disease causation and modification
in autosomal dominant polycystic kidney disease (ADPKD) have helped to explain some …
in autosomal dominant polycystic kidney disease (ADPKD) have helped to explain some …
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity
Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations to PKD1 or
PKD2, triggering progressive cystogenesis and typically leading to end-stage renal disease …
PKD2, triggering progressive cystogenesis and typically leading to end-stage renal disease …
Polycystic kidney disease
PC Harris, VE Torres - Annual review of medicine, 2009 - annualreviews.org
A number of inherited disorders result in renal cyst development. The most common form,
autosomal dominant polycystic kidney disease (ADPKD), is a disorder most often diagnosed …
autosomal dominant polycystic kidney disease (ADPKD), is a disorder most often diagnosed …
Loss of cilia suppresses cyst growth in genetic models of autosomal dominant polycystic kidney disease
M Ma, X Tian, P Igarashi, GJ Pazour, S Somlo - Nature genetics, 2013 - nature.com
Kidney cysts occur following inactivation of polycystins in otherwise intact cilia or following
complete removal of cilia by inactivation of intraflagellar transport–related proteins. We …
complete removal of cilia by inactivation of intraflagellar transport–related proteins. We …
[HTML][HTML] Autosomal dominant polycystic kidney disease: the last 3 years
VE Torres, PC Harris - Kidney international, 2009 - Elsevier
Autosomal dominant polycystic kidney disease is the most prevalent, potentially lethal
monogenic disorder. It has large inter-and intra-familial variability explained to a large extent …
monogenic disorder. It has large inter-and intra-familial variability explained to a large extent …
[HTML][HTML] Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling
Nephronophthisis-related ciliopathies (NPHP-RC) are degenerative recessive diseases that
affect kidney, retina, and brain. Genetic defects in NPHP gene products that localize to cilia …
affect kidney, retina, and brain. Genetic defects in NPHP gene products that localize to cilia …