Polycystic kidney disease
C Bergmann, LM Guay-Woodford, PC Harris… - Nature reviews Disease …, 2018 - nature.com
Cystic kidneys are common causes of end-stage renal disease, both in children and in
adults. Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive …
adults. Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive …
Transient receptor potential (TRP) channels
A Samanta, TET Hughes… - … complexes: Structure and …, 2018 - Springer
Abstract Transient Receptor Potential (TRP) channels are evolutionarily conserved integral
membrane proteins. The mammalian TRP superfamily of ion channels consists of 28 cation …
membrane proteins. The mammalian TRP superfamily of ion channels consists of 28 cation …
[PDF][PDF] Mutations in GANAB, encoding the glucosidase IIα subunit, cause autosomal-dominant polycystic kidney and liver disease
B Porath, VG Gainullin, E Cornec-Le Gall… - The American Journal of …, 2016 - cell.com
Autosomal-dominant polycystic kidney disease (ADPKD) is a common, progressive, adult-
onset disease that is an important cause of end-stage renal disease (ESRD), which requires …
onset disease that is an important cause of end-stage renal disease (ESRD), which requires …
International union of basic and clinical pharmacology. xciv. adhesion g protein–coupled receptors
The Adhesion family forms a large branch of the pharmacologically important superfamily of
G protein–coupled receptors (GPCRs). As Adhesion GPCRs increasingly receive attention …
G protein–coupled receptors (GPCRs). As Adhesion GPCRs increasingly receive attention …
[PDF][PDF] The structure of the polycystic kidney disease channel PKD2 in lipid nanodiscs
Summary The Polycystic Kidney Disease 2 (Pkd2) gene is mutated in autosomal dominant
polycystic kidney disease (ADPKD), one of the most common human monogenic disorders …
polycystic kidney disease (ADPKD), one of the most common human monogenic disorders …
[HTML][HTML] 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 …
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 …
[HTML][HTML] 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 …
[HTML][HTML] Isolated polycystic liver disease genes define effectors of polycystin-1 function
Dominantly inherited isolated polycystic liver disease (PCLD) consists of liver cysts that are
radiologically and pathologically identical to those seen in autosomal dominant polycystic …
radiologically and pathologically identical to those seen in autosomal dominant polycystic …