Ciliopathies: an expanding disease spectrum

AM Waters, PL Beales - Pediatric nephrology, 2011 - Springer
Ciliopathies comprise a group of disorders associated with genetic mutations encoding
defective proteins, which result in either abnormal formation or function of cilia. As cilia are a …

The TRP superfamily of cation channels

C Montell - Science's STKE, 2005 - science.org
The transient receptor potential (TRP) protein superfamily consists of a diverse group of
cation channels that bear structural similarities to Drosophila TRP. TRP channels play …

Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells

SM Nauli, FJ Alenghat, Y Luo, E Williams, P Vassilev… - Nature …, 2003 - nature.com
Several proteins implicated in the pathogenesis of polycystic kidney disease (PKD) localize
to cilia. Furthermore, cilia are malformed in mice with PKD with mutations in TgN737Rpw …

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 …

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 …

Calcium at fertilization and in early development

M Whitaker - Physiological reviews, 2006 - journals.physiology.org
Fertilization calcium waves are introduced, and the evidence from which we can infer
general mechanisms of these waves is presented. The two main classes of hypotheses put …

[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 …

Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation

W Lu, B Peissel, H Babakhanlou, A Pavlova, L Geng… - Nature …, 1997 - nature.com
PKD1 is the most common site for mutations in human autosomal dominant polycystic
kidney disease (ADPKD). ADPKD is characterized by progressive replacement of kidney …

Physiology, phylogeny, and functions of the TRP superfamily of cation channels

C Montell - Science's STKE, 2001 - science.org
The transient receptor potential (TRP) protein superfamily consists of a diverse group of
Ca2+ permeable nonselective cation channels that bear structural similarities to Drosophila …

[HTML][HTML] Identification and characterization of polycystin-2, thePKD2 gene product

Y Cai, Y Maeda, A Cedzich, VE Torres, G Wu… - Journal of Biological …, 1999 - ASBMB
PKD2, the second gene for the autosomal dominant polycystic kidney disease (ADPKD),
encodes a protein, polycystin-2, with predicted structural similarity to cation channel …