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 …

Cell biology and physiology of the uroepithelium

P Khandelwal, SN Abraham… - American Journal of …, 2009 - journals.physiology.org
The uroepithelium sits at the interface between the urinary space and underlying tissues,
where it forms a high-resistance barrier to ion, solute, and water flux, as well as pathogens …

The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia

BK Yoder, X Hou… - Journal of the American …, 2002 - journals.lww.com
Recent evidence has suggested an association between structural and/or functional defects
in the primary apical cilium of vertebrate epithelia and polycystic kidney disease (PKD). In …

Metabolism and mitochondria in polycystic kidney disease research and therapy

V Padovano, C Podrini, A Boletta… - Nature Reviews …, 2018 - nature.com
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common,
potentially lethal, monogenic diseases and is caused predominantly by mutations in …

Genetics and pathogenesis of polycystic kidney disease

P Igarashi, S Somlo - Journal of the American Society of …, 2002 - journals.lww.com
Polycystic kidney disease (PKD), a common genetic cause of chronic renal failure in
children and adults, is characterized by the accumulation of fluid-filled cysts in the kidney …

[HTML][HTML] Somatic inactivation of Pkd2 results in polycystic kidney disease

G Wu, V D'Agati, Y Cai, G Markowitz, JH Park… - Cell, 1998 - cell.com
Germline mutations in PKD2 cause autosomal dominant polycystic kidney disease. We have
introduced a mutant exon 1 in tandem with the wild-type exon 1 at the mouse Pkd2 locus …

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 …

Dysfunctional cilia lead to altered ependyma and choroid plexus function, and result in the formation of hydrocephalus

B Banizs, MM Pike, CL Millican, WB Ferguson… - 2005 - journals.biologists.com
Cilia are complex organelles involved in sensory perception and fluid or cell movement.
They are constructed through a highly conserved process called intraflagellar transport (IFT) …

Cardiovascular, skeletal, and renal defects in mice with a targeted disruption of the Pkd1 gene

C Boulter, S Mulroy, S Webb… - Proceedings of the …, 2001 - National Acad Sciences
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by cyst formation
in the kidney, liver, and pancreas and is associated often with cardiovascular abnormalities …

Polycystin 1 is required for the structural integrity of blood vessels

K Kim, I Drummond… - Proceedings of the …, 2000 - National Acad Sciences
Autosomal dominant polycystic kidney disease (ADPKD), often caused by mutations in the
PKD1 gene, is associated with life-threatening vascular abnormalities that are commonly …