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 …

Epithelial transport in polycystic kidney disease

LP Sullivan, DP Wallace… - Physiological …, 1998 - journals.physiology.org
Sullivan, Lawrence P., Darren P. Wallace, and Jared J. Grantham. Epithelial Transport in
Polycystic Kidney Disease. Physiol. Rev. 78: 1165–1191, 1998.—In autosomal dominant …

[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 …

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 …

[HTML][HTML] The polycystic kidney disease 1 gene product modulates Wnt signaling

E Kim, T Arnould, LK Sellin, T Benzing, MJ Fan… - Journal of Biological …, 1999 - ASBMB
Two distinct signaling pathways, involving Wnt signaling and polycystin, have been found to
be critical for normal kidney development. Renal tubulogenesis requires the presence of …

Coordinate expression of the autosomal dominant polycystic kidney disease proteins, polycystin-2 and polycystin-1, in normal and cystic tissue

ACM Ong, CJ Ward, RJ Butler, S Biddolph… - The American journal of …, 1999 - Elsevier
A second gene for autosomal dominant polycystic kidney disease (ADPKD), PKD2, has
been recently identified. Using antisera raised to the human PKD2 protein, polycystin-2, we …

Expression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney development

V Chauvet, F Qian, N Boute, Y Cai… - The American journal of …, 2002 - Elsevier
Autosomal-dominant polycystic kidney disease, one of the most frequent human genetic
disorders, is genetically heterogeneous. Most cases result from mutations of PKD1 or PKD2 …

Cystic canal mutants in Caenorhabditis elegans are defective in the apical membrane domain of the renal (excretory) cell

M Buechner, DH Hall, H Bhatt, EM Hedgecock - Developmental biology, 1999 - Elsevier
The excretory cell extends a tubular process, or canal, along the basolateral surface of the
epidermis to form the nematode renal epithelium. This cell can undergo normal …