Integrated multi-omics approaches to improve classification of chronic kidney disease

S Eddy, LH Mariani, M Kretzler - Nature Reviews Nephrology, 2020 - nature.com
Chronic kidney diseases (CKDs) are currently classified according to their clinical features,
associated comorbidities and pattern of injury on biopsy. Even within a given classification …

Uromodulin: roles in health and disease

C Schaeffer, O Devuyst… - Annual review of …, 2021 - annualreviews.org
Uromodulin, a protein exclusively produced by the kidney, is the most abundant urinary
protein in physiological conditions. Already described several decades ago, uromodulin has …

Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease

H Liu, T Doke, D Guo, X Sheng, Z Ma, J Park, HMT Vy… - Nature …, 2022 - nature.com
More than 800 million people suffer from kidney disease, yet the mechanism of kidney
dysfunction is poorly understood. In the present study, we define the genetic association with …

Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis

SN Stacey, F Zink, GH Halldorsson, L Stefansdottir… - Nature Genetics, 2023 - nature.com
Clonal hematopoiesis (CH) arises when a substantial proportion of mature blood cells is
derived from a single hematopoietic stem cell lineage. Using whole-genome sequencing of …

Discovery of autoantibodies targeting nephrin in minimal change disease supports a novel autoimmune etiology

AJB Watts, KH Keller, G Lerner, I Rosales… - Journal of the …, 2022 - journals.lww.com
Background Failure of the glomerular filtration barrier, primarily by loss of slit diaphragm
architecture, underlies nephrotic syndrome in minimal change disease. The etiology …

A catalog of genetic loci associated with kidney function from analyses of a million individuals

M Wuttke, Y Li, M Li, KB Sieber, MF Feitosa, M Gorski… - Nature …, 2019 - nature.com
Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic
complications. Through trans-ancestry meta-analysis of genome-wide association studies of …

Discovery and prioritization of variants and genes for kidney function in> 1.2 million individuals

KJ Stanzick, Y Li, P Schlosser, M Gorski… - Nature …, 2021 - nature.com
Genes underneath signals from genome-wide association studies (GWAS) for kidney
function are promising targets for functional studies, but prioritizing variants and genes is …

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels

A Tin, J Marten, VL Halperin Kuhns, Y Li, M Wuttke… - Nature …, 2019 - nature.com
Elevated serum urate levels cause gout and correlate with cardiometabolic diseases via
poorly understood mechanisms. We performed a trans-ancestry genome-wide association …

Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine

P Schlosser, N Scherer, F Grundner-Culemann… - Nature …, 2023 - nature.com
The kidneys operate at the interface of plasma and urine by clearing molecular waste
products while retaining valuable solutes. Genetic studies of paired plasma and urine …

The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis

J Xie, L Liu, N Mladkova, Y Li, H Ren, W Wang… - Nature …, 2020 - nature.com
Membranous Nephropathy (MN) is a rare autoimmune cause of kidney failure. Here we
report a genome-wide association study (GWAS) for primary MN in 3,782 cases and 9,038 …