Unravelling the complex genetics of common kidney diseases: from variants to mechanisms

KM Sullivan, K Susztak - Nature Reviews Nephrology, 2020 - nature.com
Genome-wide association studies (GWAS) have identified hundreds of loci associated with
kidney-related traits such as glomerular filtration rate, albuminuria, hypertension, electrolyte …

[图书][B] Genetic diseases of the kidney

RP Lifton, S Somlo, GH Giebisch, DW Seldin - 2009 - books.google.com
Genetic approaches have revolutionized our understanding of the fundamental causes of
human disease by permitting the identification of specific genes in which variation causes or …

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 …

[HTML][HTML] A systems view of genetics in chronic kidney disease

BJ Keller, S Martini, JR Sedor, M Kretzler - Kidney international, 2012 - Elsevier
A tight interplay of genetic predisposition and environmental factors define the onset and the
rate of progression of chronic renal disease. We are seeing a rapid expansion of information …

Insights into kidney diseases from genome-wide association studies

M Wuttke, A Köttgen - Nature Reviews Nephrology, 2016 - nature.com
Over the past decade, genome-wide association studies (GWAS) have considerably
improved our understanding of the genetic basis of kidney function and disease. Population …

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 …

Integrated functional genomic analysis enables annotation of kidney genome-wide association study loci

KB Sieber, A Batorsky, K Siebenthall… - Journal of the …, 2019 - journals.lww.com
Background Linking genetic risk loci identified by genome-wide association studies (GWAS)
to their causal genes remains a major challenge. Disease-associated genetic variants are …

Unravelling the genetic basis of renal diseases; from single gene to multifactorial disorders

AJ McKnight, D Currie… - The Journal of Pathology: A …, 2010 - Wiley Online Library
Chronic kidney disease is common with up to 5% of the adult population reported to have an
estimated glomerular filtration rate of< 60 ml/min/1.73 m2. A large number of pathogenic …

Glomerular diseases: genetic causes and future therapeutics

CK Chiang, R Inagi - Nature Reviews Nephrology, 2010 - nature.com
The glomerulus consists of capillary tufts, a mesangial cell component and the Bowman
capsule. The glomerular filtration barrier is composed of glomerular endothelial cells, a …

Genetic-variation-driven gene-expression changes highlight genes with important functions for kidney disease

YA Ko, H Yi, C Qiu, S Huang, J Park, N Ledo… - The American Journal of …, 2017 - cell.com
Chronic kidney disease (CKD) is a complex gene-environmental disease affecting close to
10% of the US population. Genome-wide association studies (GWASs) have identified …