Mechanisms of disease: autosomal dominant and recessive polycystic kidney diseases

VE Torres, PC Harris - Nature clinical practice Nephrology, 2006 - nature.com
Autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney
disease are the best known of a large family of inherited diseases characterized by the …

Polycystic kidney disease: genes, proteins, animal models, disease mechanisms and therapeutic opportunities

VE Torres, PC Harris - Journal of internal medicine, 2007 - Wiley Online Library
An increased understanding of the genetic, molecular and cellular mechanisms responsible
for the development of polycystic kidney disease has laid out the foundation for the …

Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice

IS Lantinga-van Leeuwen, WN Leonhard… - Human molecular …, 2007 - academic.oup.com
Autosomal dominant polycystic kidney disease, caused by mutations in the PKD1 gene, is
characterized by progressive deterioration of kidney function due to the formation of …

Pkd1 regulates immortalized proliferation of renal tubular epithelial cells through p53 induction and JNK activation

S Nishio, M Hatano, M Nagata, S Horie… - The Journal of …, 2005 - Am Soc Clin Investig
Autosomal dominant polycystic kidney disease (ADPKD) is the most common human
monogenic genetic disorder and is characterized by progressive bilateral renal cysts and the …

Epithelial proliferation and cell cycle dysregulation in kidney injury and disease

K Lee, GL Gusella, JC He - Kidney international, 2021 - Elsevier
Various cellular insults and injury to renal epithelial cells stimulate repair mechanisms to
adapt and restore the organ homeostasis. Renal tubular epithelial cells are endowed with …

Loss of polycystin-1 causes centrosome amplification and genomic instability

L Battini, S Macip, E Fedorova, S Dikman… - Human molecular …, 2008 - academic.oup.com
Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenetic
disease predominantly caused by alteration or dysregulation of the PKD1 gene, which …

Polycystin and calcium signaling in cell death and survival

FO Lemos, BE Ehrlich - Cell calcium, 2018 - Elsevier
Abstract Mutations in polycystin-1 (PC1) and polycystin-2 (PC2) result in a commonly
occurring genetic disorder, called Autosomal Dominant Polycystic Kidney Disease (ADPKD) …

[HTML][HTML] Hyperproliferation of PKD1 cystic cells is induced by insulin-like growth factor-1 activation of the Ras/Raf signalling system

E Parker, LJ Newby, CC Sharpe, S Rossetti… - Kidney international, 2007 - Elsevier
Autosomal dominant polycystic kidney disease (ADPKD) largely results from mutations in
the PKD1 gene leading to hyperproliferation of renal tubular epithelial cells and consequent …

Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms

C Gascue, N Katsanis, JL Badano - Pediatric Nephrology, 2011 - Springer
Ciliary dysfunction has emerged as a common factor underlying the pathogenesis of both
syndromic and isolated kidney cystic disease, an observation that has contributed to the …

Hyperphosphorylation of polycystin-2 at a critical residue in disease reveals an essential role for polycystin-1-regulated dephosphorylation

AJ Streets, O Wessely, DJM Peters… - Human molecular …, 2013 - academic.oup.com
Abstract Mutations in PKD1 (85%) or PKD2 (15%) account for almost all cases of autosomal
dominant polycystic kidney disease (ADPKD). The ADPKD proteins, termed as polycystin-1 …