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 …

[HTML][HTML] Molecular pathogenesis of ADPKD: the polycystin complex gets complex

ACM Ong, PC Harris - Kidney international, 2005 - Elsevier
Molecular pathogenesis of ADPKD: The polycystin complex gets complex. Autosomal-
dominant polycystic kidney disease (ADPKD) is one of the most common human monogenic …

Mutations in GANAB, encoding the glucosidase IIα subunit, cause autosomal-dominant polycystic kidney and liver disease

B Porath, VG Gainullin, E Cornec-Le Gall… - The American Journal of …, 2016 - cell.com
Autosomal-dominant polycystic kidney disease (ADPKD) is a common, progressive, adult-
onset disease that is an important cause of end-stage renal disease (ESRD), which requires …

Organoid cystogenesis reveals a critical role of microenvironment in human polycystic kidney disease

NM Cruz, X Song, SM Czerniecki, RE Gulieva… - Nature materials, 2017 - nature.com
Polycystic kidney disease (PKD) is a life-threatening disorder, commonly caused by defects
in polycystin-1 (PC1) or polycystin-2 (PC2), in which tubular epithelia form fluid-filled cysts …

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 …

Extracellular vesicles and exosomes generated from cystic renal epithelial cells promote cyst growth in autosomal dominant polycystic kidney disease

H Ding, LX Li, PC Harris, J Yang, X Li - Nature communications, 2021 - nature.com
Autosomal dominant polycystic kidney disease (ADPKD) is caused by germline mutations of
PKD1 or PKD2 on one allele and a somatic mutation inactivating the remaining normal …

Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease

H Lu, MCR Galeano, E Ott, G Kaeslin, PJ Kausalya… - Nature …, 2017 - nature.com
Autosomal recessive polycystic kidney disease (ARPKD), usually considered to be a
genetically homogeneous disease caused by mutations in PKHD1, has been associated …

Characterization of PKD protein-positive exosome-like vesicles

MC Hogan, L Manganelli, JR Woollard… - Journal of the …, 2009 - journals.lww.com
Proteins associated with autosomal dominant and autosomal recessive polycystic kidney
disease (polycystin-1, polycystin-2, and fibrocystin) localize to various subcellular …

Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease

ISL Leeuwen, JG Dauwerse, HJ Baelde… - Human molecular …, 2004 - academic.oup.com
Autosomal dominant polycystic kidney disease (ADPKD) is a major cause of renal failure
and is characterized by the formation of many fluid-filled cysts in the kidneys. It is a systemic …

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 …