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 …

[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 …

Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity

K Hopp, CJ Ward, CJ Hommerding… - The Journal of …, 2012 - Am Soc Clin Investig
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 …

Polycystin-2 is an essential ion channel subunit in the primary cilium of the renal collecting duct epithelium

X Liu, T Vien, J Duan, SH Sheu, PG DeCaen… - elife, 2018 - elifesciences.org
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 …

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 …

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 …

The cell biology of polycystic kidney disease

HC Chapin, MJ Caplan - Journal of Cell Biology, 2010 - rupress.org
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 …

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 …

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 …

[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 …