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 …
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 …
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 …
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 …
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 …
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 …
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
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 …
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) …
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 …
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 …
PKD1 gene, is associated with life-threatening vascular abnormalities that are commonly …