Polycystic kidney disease
PD Wilson - New England Journal of Medicine, 2004 - Mass Medical Soc
Polycystic kidney diseases are inherited renal disorders due mainly to mutations in genes
that regulate the development and function of cells that line renal tubules. This review …
that regulate the development and function of cells that line renal tubules. This review …
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 …
Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways
M Simons, J Gloy, A Ganner, A Bullerkotte… - Nature …, 2005 - nature.com
Cystic renal diseases are caused by mutations of proteins that share a unique subcellular
localization: the primary cilium of tubular epithelial cells. Mutations of the ciliary protein …
localization: the primary cilium of tubular epithelial cells. Mutations of the ciliary protein …
β‐catenin signaling and cancer
PJ Morin - Bioessays, 1999 - Wiley Online Library
Since its discovery as a protein associated with the cytoplasmic region of E‐cadherin, β‐
catenin has been shown to perform two apparently unrelated functions: it has a crucial role …
catenin has been shown to perform two apparently unrelated functions: it has a crucial role …
Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney disease
F Lin, T Hiesberger, K Cordes… - Proceedings of the …, 2003 - National Acad Sciences
Polycystic kidney disease (PKD) is the most common genetic cause of renal failure in
humans. Several proteins that are encoded by genes associated with PKD have recently …
humans. Several proteins that are encoded by genes associated with PKD have recently …
The state of the art of the zebrafish model for toxicology and toxicologic pathology research—advantages and current limitations
JM Spitsbergen, ML Kent - Toxicologic pathology, 2003 - journals.sagepub.com
The zebrafish (Danio rerio) is now the pre-eminent vertebrate model system for clarification
of the roles of specific genes and signaling pathways in development. The zebrafish …
of the roles of specific genes and signaling pathways in development. The zebrafish …
A polycystic kidney-disease gene homologue required for male mating behaviour in C. elegans
MM Barr, PW Sternberg - Nature, 1999 - nature.com
The stereotyped mating behaviour of the Caenorhabditis elegans male is made up of
several substeps: response, backing, turning, vulva location, spicule insertion and sperm …
several substeps: response, backing, turning, vulva location, spicule insertion and sperm …
Nephronophthisis
F Hildebrandt - Genetic Diseases of the Kidney, 2009 - Elsevier
Publisher Summary Nephronophthisis (NPHP) is an autosomal recessive cystic kidney
disease that represents the most frequent monogenic cause of end-stage renal disease …
disease that represents the most frequent monogenic cause of end-stage renal disease …
Primary cilia and signaling pathways in mammalian development, health and disease
Although first described as early as 1898 and long considered a vestigial organelle of little
functional importance, the primary cilium has become one of the hottest research topics in …
functional importance, the primary cilium has become one of the hottest research topics in …
Wnt/beta-catenin/tcf signaling: a critical pathway in gastrointestinal tumorigenesis
Cancers of the gastrointestinal tract, including the liver, bile ducts, and pancreas, constitute
the largest group of malignant tumors. Colorectal cancer is one of the most common …
the largest group of malignant tumors. Colorectal cancer is one of the most common …