Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease

PC Harris, VE Torres - The Journal of clinical investigation, 2014 - Am Soc Clin Investig
Recent advances in defining the genetic mechanisms of disease causation and modification
in autosomal dominant polycystic kidney disease (ADPKD) have helped to explain some …

The role of transient receptor potential cation channels in Ca2+ signaling

M Gees, B Colsoul, B Nilius - Cold Spring Harbor …, 2010 - cshperspectives.cshlp.org
The 28 mammalian members of the super-family of transient receptor potential (TRP)
channels are cation channels, mostly permeable to both monovalent and divalent cations …

Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis

H Lemoine, L Raud, F Foulquier, JA Sayer… - The American Journal of …, 2022 - cell.com
Disorders of the autosomal dominant polycystic kidney disease (ADPKD) spectrum are
characterized by the development of kidney cysts and progressive kidney function decline …

Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity

K Hopp, CJ Ward, CJ Hommerding… - The Journal of …, 2012 - Am Soc Clin Investig
Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations to PKD1 or
PKD2, triggering progressive cystogenesis and typically leading to end-stage renal disease …

Polycystin-2 is an essential ion channel subunit in the primary cilium of the renal collecting duct epithelium

X Liu, T Vien, J Duan, SH Sheu, PG DeCaen… - elife, 2018 - elifesciences.org
Mutations in the polycystin genes, PKD1 or PKD2, results in Autosomal Dominant Polycystic
Kidney Disease (ADPKD). Although a genetic basis of ADPKD is established, we lack a …

Strategies targeting cAMP signaling in the treatment of polycystic kidney disease

VE Torres, PC Harris - Journal of the American Society of …, 2014 - journals.lww.com
Polycystic kidney disease (PKD) is a leading cause of ESRD worldwide. In PKD, excessive
cell proliferation and fluid secretion, pathogenic interactions of mutated epithelial cells with …

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 …

Metformin improves relevant disease parameters in an autosomal dominant polycystic kidney disease mouse model

NM Pastor-Soler, H Li, J Pham… - American Journal …, 2022 - journals.physiology.org
Autosomal dominant polycystic kidney disease (ADPKD), caused by mutations in the
polycystin 1 (PKD1) or polycystin 2 genes, presents with progressive development of kidney …

[图书][B] Mammalian transient receptor potential (TRP) cation channels

B Nilius, V Flockerzi - 2014 - Springer
When we edited in 2007 the first issue on transient receptor potential channel in the
Handbook of Experimental Pharmacology, we were all very excited by the progress in this …

Genetics, pathobiology and therapeutic opportunities of polycystic liver disease

P Olaizola, PM Rodrigues… - Nature Reviews …, 2022 - nature.com
Polycystic liver diseases (PLDs) are inherited genetic disorders characterized by
progressive development of intrahepatic, fluid-filled biliary cysts (more than ten), which …