Murine Pkd1 is a developmentally regulated gene from morula to adulthood: Role in tissue condensation and patterning

R Guillaume, V D'Agati, M Daoust… - … dynamics: an official …, 1999 - Wiley Online Library
PKD1 is the most common genetically mutated gene involved in autosomal dominant
polycystic kidney disease (ADPKD). Our previous studies have shown that the pathogenesis …

Molecular basis of autosomal dominant polycystic kidney disease

L Al-Bhalal, M Akhtar - Advances in anatomic pathology, 2005 - journals.lww.com
Autosomal dominant polycystic kidney disease (ADPKD) is a serious, life-threatening
genetic disease in which extensive epithelial-lined cysts develop in the kidneys and, to a …

Novel targets for the treatment of autosomal dominant polycystic kidney disease

FA Belibi, CL Edelstein - Expert opinion on investigational drugs, 2010 - Taylor & Francis
Importance of the field: Autosomal dominant (AD) polycystic kidney disease (PKD) is the
most common life-threatening hereditary disorder. There is currently no therapy that slows or …

Overexpression of PKD1 causes polycystic kidney disease

C Thivierge, A Kurbegovic, M Couillard… - … and cellular biology, 2006 - Am Soc Microbiol
The pathogenetic mechanisms underlying autosomal dominant polycystic kidney disease
(ADPKD) remain to be elucidated. While there is evidence that Pkd1 gene haploinsufficiency …

Autosomal dominant polycystic kidney disease: clues to pathogenesis

PC Harris - Human molecular genetics, 1999 - academic.oup.com
Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutation of one of two
genes: PKD1 (16p13. 3) or PKD2 (4q13–23). PKD1 accounts for∼ 85% of pedigrees and is …

Polycystic kidney disease

PC Harris, VE Torres - Annual review of medicine, 2009 - annualreviews.org
A number of inherited disorders result in renal cyst development. The most common form,
autosomal dominant polycystic kidney disease (ADPKD), is a disorder most often diagnosed …

PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells

MZ Zhang, W Mai, C Li, S Cho, C Hao… - Proceedings of the …, 2004 - National Acad Sciences
Mutations of the polycystic kidney and hepatic disease 1 (PKHD1) gene have been shown to
cause autosomal recessive polycystic kidney disease (ARPKD), but the cellular functions of …

[引用][C] Molecular Medicine, Genetics and Development-The Polycystic Kidney Disease Proteins, Polycystin-1, Polycystin-2, Polaris, and Cystin, Are Co-Localized in …

BK Yoder, X Hou… - Journal of the …, 2002 - Baltimore, MD: Williams & Wilkins …

Cellular activation triggered by the autosomal dominant polycystic kidney disease gene product PKD2

T Arnould, L Sellin, T Benzing, L Tsiokas… - … and cellular biology, 1999 - Taylor & Francis
Autosomal dominant polycystic kidney disease (ADPKD) is caused by germ line mutations in
at least three ADPKD genes. Two recently isolated ADPKD genes, PKD1 and PKD2, encode …

Polycystic kidney disease

J Ghata, BD Cowley Jr - Comprehensive Physiology, 2011 - Wiley Online Library
Renal cysts, which arise from renal tubules, can be seen in a variety of hereditary and
nonhereditary entities. Common mechanisms associated with renal cyst formation include …