MR Pollak, DJ Friedman - … Journal of the American Society of …, 2020 - journals.lww.com
The kidney is subject to a wide range of abnormalities, many of which have a significant hereditable component. Next generation sequencing is increasingly bringing the genetic …
PE Drawz, JR Sedor - Nature Reviews Nephrology, 2011 - nature.com
Genome-wide association studies (GWASs) have advanced our understanding of the genetic basis for common renal diseases, including chronic kidney disease (CKD) and …
Although often considered a single-entity, chronic kidney disease (CKD) comprises many pathophysiologically distinct disorders that result in persistently abnormal kidney structure …
F Hildebrandt - Nature reviews nephrology, 2015 - nature.com
Advances in genome sequencing and genetic manipulation techniques over the last decade have helped identify numerous single-gene causes of early-onset kidney diseases and risk …
Y Li, A Köttgen - American journal of kidney diseases, 2013 - ajkd.org
It has long been known that inherited kidney disor-ders such as polycystic kidney disease (PKD) can be caused by mutations in a single gene. These disorders are termed monogenic …
A Köttgen, E Cornec-Le Gall, J Halbritter, K Kiryluk… - Kidney international, 2022 - Elsevier
Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as well as genes for complex kidney diseases that manifest in combination with environmental …
DP Gale, A Mallett, C Patel, TP Sneddon… - Nature Reviews …, 2020 - nature.com
The increasing availability of sequencing has accelerated the discovery of genetic causes of kidney disease, with clear benefits for patients. However, insufficient or contradictory …
Technologies such as next-generation sequencing and chromosomal microarray have advanced the understanding of the molecular pathogenesis of a variety of renal disorders …
A Kesselheim, E Ashton… - Clinical Kidney …, 2017 - academic.oup.com
Next-generation sequencing has dramatically decreased the cost of gene sequencing, facilitating the simultaneous analysis of multiple genes at the same time; obtaining a genetic …