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 …

[HTML][HTML] Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies …

AB Chapman, O Devuyst, KU Eckardt, RT Gansevoort… - Kidney international, 2015 - Elsevier
Autosomal-dominant polycystic kidney disease (ADPKD) affects up to 12 million individuals
and is the fourth most common cause for renal replacement therapy worldwide. There have …

KDIGO clinical practice guideline on the evaluation and care of living kidney donors

KL Lentine, BL Kasiske, AS Levey, PL Adams… - …, 2017 - journals.lww.com
Abstract The 2017 Kidney Disease: Improving Global Outcomes (KDIGO) Clinical Practice
Guideline on the Evaluation and Care of Living Kidney Donors is intended to assist medical …

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 …

Transient receptor potential channels as drug targets: from the science of basic research to the art of medicine

B Nilius, A Szallasi, DR Sibley - Pharmacological reviews, 2014 - Elsevier
The large Trp gene family encodes transient receptor potential (TRP) proteins that form
novel cation-selective ion channels. In mammals, 28 Trp channel genes have been …

The PROPKD score: a new algorithm to predict renal survival in autosomal dominant polycystic kidney disease

E Cornec-Le Gall, MP Audrézet… - Journal of the …, 2016 - journals.lww.com
The course of autosomal dominant polycystic kidney disease (ADPKD) varies among
individuals, with some reaching ESRD before 40 years of age and others never requiring …

Type of PKD1 mutation influences renal outcome in ADPKD

E Cornec-Le Gall, MP Audrézet, JM Chen… - Journal of the …, 2013 - journals.lww.com
Autosomal dominant polycystic kidney disease (ADPKD) is heterogeneous with regard to
genic and allelic heterogeneity, as well as phenotypic variability. The genotype-phenotype …

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 …

Metabolism and mitochondria in polycystic kidney disease research and therapy

V Padovano, C Podrini, A Boletta… - Nature Reviews …, 2018 - nature.com
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common,
potentially lethal, monogenic diseases and is caused predominantly by mutations in …

Genomic medicine for kidney disease

EE Groopman, HM Rasouly, AG Gharavi - Nature Reviews Nephrology, 2018 - nature.com
Technologies such as next-generation sequencing and chromosomal microarray have
advanced the understanding of the molecular pathogenesis of a variety of renal disorders …