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 …
[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 …
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 …
Polycystin-2 is an essential ion channel subunit in the primary cilium of the renal collecting duct epithelium
Mutations in the polycystin genes, PKD1 or PKD2, results in Autosomal Dominant Polycystic
Kidney Disease (ADPKD). Although a genetic basis of ADPKD is established, we lack a …
Kidney Disease (ADPKD). Although a genetic basis of ADPKD is established, we lack a …
Strategies targeting cAMP signaling in the treatment of polycystic kidney disease
VE Torres, PC Harris - Journal of the American Society of …, 2014 - journals.lww.com
Polycystic kidney disease (PKD) is a leading cause of ESRD worldwide. In PKD, excessive
cell proliferation and fluid secretion, pathogenic interactions of mutated epithelial cells with …
cell proliferation and fluid secretion, pathogenic interactions of mutated epithelial cells with …
Endothelial cilia are fluid shear sensors that regulate calcium signaling and nitric oxide production through polycystin-1
SM Nauli, Y Kawanabe, JJ Kaminski, WJ Pearce… - Circulation, 2008 - Am Heart Assoc
Background—When challenged with extracellular fluid shear stress, vascular endothelial
cells are known to release nitric oxide, an important vasodilator. Here, we show that the …
cells are known to release nitric oxide, an important vasodilator. Here, we show that the …
The cell biology of polycystic kidney disease
Polycystic kidney disease is a common genetic disorder in which fluid-filled cysts displace
normal renal tubules. Here we focus on autosomal dominant polycystic kidney disease …
normal renal tubules. Here we focus on autosomal dominant polycystic kidney disease …
Aquaporin 2 regulation: implications for water balance and polycystic kidney diseases
ETB Olesen, RA Fenton - Nature Reviews Nephrology, 2021 - nature.com
Targeting the collecting duct water channel aquaporin 2 (AQP2) to the plasma membrane is
essential for the maintenance of mammalian water homeostasis. The vasopressin V2 …
essential for the maintenance of mammalian water homeostasis. The vasopressin V2 …
Ciliary polycystin-2 is a mechanosensitive calcium channel involved in nitric oxide signaling cascades
WA AbouAlaiwi, M Takahashi, BR Mell… - Circulation …, 2009 - Am Heart Assoc
Cardiovascular complications such as hypertension are a continuous concern in patients
with autosomal dominant polycystic kidney disease (ADPKD). The PKD2 encoding for …
with autosomal dominant polycystic kidney disease (ADPKD). The PKD2 encoding for …
[HTML][HTML] A polycystin-centric view of cyst formation and disease: the polycystins revisited
ACM Ong, PC Harris - Kidney international, 2015 - Elsevier
It is 20 years since the identification of PKD1, the major gene mutated in autosomal
dominant polycystic kidney disease (ADPKD), followed closely by the cloning of PKD2 …
dominant polycystic kidney disease (ADPKD), followed closely by the cloning of PKD2 …