Polycystic kidney disease

C Bergmann, LM Guay-Woodford, PC Harris… - Nature reviews Disease …, 2018 - nature.com
Cystic kidneys are common causes of end-stage renal disease, both in children and in
adults. Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive …

Transient receptor potential channels: current perspectives on evolution, structure, function and nomenclature

NJ Himmel, DN Cox - Proceedings of the Royal Society …, 2020 - royalsocietypublishing.org
The transient receptor potential superfamily of ion channels (TRP channels) is widely
recognized for the roles its members play in sensory nervous systems. However, the …

Structure of the human PKD1-PKD2 complex

Q Su, F Hu, X Ge, J Lei, S Yu, T Wang, Q Zhou, C Mei… - Science, 2018 - science.org
INTRODUCTION Mutations in two genes, PKD1 and PKD2, are responsible for about 85 and
10% of all cases of autosomal dominant polycystic kidney disease (ADPKD), one of the most …

The structure of the polycystic kidney disease channel PKD2 in lipid nanodiscs

PS Shen, X Yang, PG DeCaen, X Liu, D Bulkley… - Cell, 2016 - cell.com
Summary The Polycystic Kidney Disease 2 (Pkd2) gene is mutated in autosomal dominant
polycystic kidney disease (ADPKD), one of the most common human monogenic disorders …

Autosomal dominant polycystic kidney disease

VE Torres, PC Harris, Y Pirson - The Lancet, 2007 - thelancet.com
Autosomal dominant polycystic kidney disease is the most prevalent, potentially lethal,
monogenic disorder. It is associated with large interfamilial and intrafamilial variability, which …

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 …

International Union of Basic and Clinical Pharmacology. LXXVI. Current progress in the mammalian TRP ion channel family

LJ Wu, TB Sweet, DE Clapham - Pharmacological reviews, 2010 - ASPET
Transient receptor potential (TRP) channels are a large family of ion channel proteins,
surpassed in number in mammals only by voltage-gated potassium channels. TRP channels …

Transient receptor potential cation channels in disease

B Nilius, G Owsianik, T Voets… - Physiological …, 2007 - journals.physiology.org
The transient receptor potential (TRP) superfamily consists of a large number of cation
channels that are mostly permeable to both monovalent and divalent cations. The 28 …

Chlamydomonas IFT88 and Its Mouse Homologue, Polycystic Kidney Disease Gene Tg737, Are Required for Assembly of Cilia and Flagella

GJ Pazour, BL Dickert, Y Vucica, ES Seeley… - The Journal of cell …, 2000 - rupress.org
Intraflagellar transport (IFT) is a rapid movement of multi-subunit protein particles along
flagellar microtubules and is required for assembly and maintenance of eukaryotic flagella …

The ciliopathies: an emerging class of human genetic disorders

JL Badano, N Mitsuma, PL Beales… - Annu. Rev. Genomics …, 2006 - annualreviews.org
Cilia and flagella are ancient, evolutionarily conserved organelles that project from cell
surfaces to perform diverse biological roles, including whole-cell locomotion; movement of …