Kidney disease genetic risk variants alter lysosomal beta-mannosidase (MANBA) expression and disease severity
More than 800 million people in the world suffer from chronic kidney disease (CKD).
Genome-wide association studies (GWAS) have identified hundreds of loci where genetic …
Genome-wide association studies (GWAS) have identified hundreds of loci where genetic …
[PDF][PDF] Genetic-variation-driven gene-expression changes highlight genes with important functions for kidney disease
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 …
10% of the US population. Genome-wide association studies (GWASs) have identified …
Chronic kidney disease: novel insights from genome-wide association studies
CA Böger, IM Heid - Kidney and Blood Pressure Research, 2011 - karger.com
Chronic kidney disease (CKD) is common, affecting about 10% of the general population,
and causing significant morbidity and mortality. Apart from the risk conferred by traditional …
and causing significant morbidity and mortality. Apart from the risk conferred by traditional …
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 …
improved our understanding of the genetic basis of kidney function and disease. Population …
[HTML][HTML] Proximal tubular Bmal1 protects against chronic kidney injury and renal fibrosis by maintaining of cellular metabolic homeostasis
C Liu, S Li, S Ji, J Zhang, F Zheng, Y Guan… - … et Biophysica Acta (BBA …, 2023 - Elsevier
Recent studies suggest that deletion of the core clock gene Bmal1 in the kidney has a
significant influence on renal physiological functions. However, the role of renal Bmal1 in …
significant influence on renal physiological functions. However, the role of renal Bmal1 in …
[HTML][HTML] Genome-wide association studies of CKD and related traits
A Tin, A Köttgen - Clinical Journal of the American Society of …, 2020 - journals.lww.com
The past few years have seen major advances in genome-wide association studies (GWAS)
of CKD and kidney function–related traits in several areas: increases in sample size from> …
of CKD and kidney function–related traits in several areas: increases in sample size from> …
Integration of GWAS summary statistics and gene expression reveals target cell types underlying kidney function traits
Y Li, S Haug, P Schlosser, A Teumer… - Journal of the …, 2020 - journals.lww.com
Background Genetic variants identified in genome-wide association studies (GWAS) are
often not specific enough to reveal complex underlying physiology. By integrating RNA-seq …
often not specific enough to reveal complex underlying physiology. By integrating RNA-seq …
Genome-wide association study of diabetic kidney disease highlights biology involved in glomerular basement membrane collagen
RM Salem, JN Todd, N Sandholm… - Journal of the …, 2019 - journals.lww.com
Background Although diabetic kidney disease demonstrates both familial clustering and
single nucleotide polymorphism heritability, the specific genetic factors influencing risk …
single nucleotide polymorphism heritability, the specific genetic factors influencing risk …
Common variants in Mendelian kidney disease genes and their association with renal function
A Parsa, C Fuchsberger, A Koettgen… - Journal of the …, 2013 - journals.lww.com
Many common genetic variants identified by genome-wide association studies for complex
traits map to genes previously linked to rare inherited Mendelian disorders. A systematic …
traits map to genes previously linked to rare inherited Mendelian disorders. A systematic …
Genome-wide association studies in nephrology research
A Köttgen - American Journal of Kidney Diseases, 2010 - Elsevier
Kidney diseases constitute a serious public health burden worldwide, with substantial
associated morbidity and mortality. The role of a genetic contribution to kidney disease is …
associated morbidity and mortality. The role of a genetic contribution to kidney disease is …