Genetics of kidney disease: the unexpected role of rare disorders

MD Elliott, HM Rasouly… - Annual Review of Medicine, 2023 - annualreviews.org
Hundreds of different genetic causes of chronic kidney disease are now recognized, and
while individually rare, taken together they are significant contributors to both adult and …

The genetic architecture of kidney disease

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 …

The genetics of common kidney disease: a pathway toward clinical relevance

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 …

Rare genetic causes of complex kidney and urological diseases

EE Groopman, G Povysil, DB Goldstein… - Nature Reviews …, 2020 - nature.com
Although often considered a single-entity, chronic kidney disease (CKD) comprises many
pathophysiologically distinct disorders that result in persistently abnormal kidney structure …

Genetic dissection of kidney disorders

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 …

Genetic investigations of kidney disease: Core curriculum 2013

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 …

[HTML][HTML] Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) controversies conference

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 …

Diagnoses of uncertain significance: kidney genetics in the 21st century

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 …

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 …

Potential and pitfalls in the genetic diagnosis of kidney diseases

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 …