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Genetics of chronic kidney disease
A Vivante - New England Journal of Medicine, 2024 - Mass Medical Soc
Key Points Genetics of Chronic Kidney Disease Genetic causes of chronic kidney disease
(CKD) are not uncommon. Patients with CKD should be referred for genetic consultation and …
(CKD) are not uncommon. Patients with CKD should be referred for genetic consultation and …
The glomerular filtration barrier: a structural target for novel kidney therapies
IS Daehn, JS Duffield - Nature Reviews Drug Discovery, 2021 - nature.com
Loss of normal kidney function affects more than 10% of the population and contributes to
morbidity and mortality. Kidney diseases are currently treated with immunosuppressive …
morbidity and mortality. Kidney diseases are currently treated with immunosuppressive …
KDIGO 2024 clinical practice guideline for the evaluation and management of chronic kidney disease
This article is published as part of a supplement sponsored by Kidney Disease: Improving
Global Outcomes (KDIGO). The opinions or views expressed in this supplement are those of …
Global Outcomes (KDIGO). The opinions or views expressed in this supplement are those of …
KDIGO 2021 clinical practice guideline for the management of glomerular diseases
BH Rovin, SG Adler, J Barratt, F Bridoux… - Kidney …, 2021 - kidney-international.org
Glomerular disease, be it primary or secondary, occurring in the setting of systemic
autoimmune diseases, infections, drugs, or malignancy, affects individuals of all ages. In …
autoimmune diseases, infections, drugs, or malignancy, affects individuals of all ages. In …
Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease
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 …
dysfunction is poorly understood. In the present study, we define the genetic association with …
Genome-wide polygenic score to predict chronic kidney disease across ancestries
Chronic kidney disease (CKD) is a common complex condition associated with high
morbidity and mortality. Polygenic prediction could enhance CKD screening and prevention; …
morbidity and mortality. Polygenic prediction could enhance CKD screening and prevention; …
Mechanisms of cognitive dysfunction in CKD
Cognitive impairment is an increasingly recognized major cause of chronic disability and is
commonly found in patients with chronic kidney disease (CKD). Knowledge of the …
commonly found in patients with chronic kidney disease (CKD). Knowledge of the …
Guidelines for genetic testing and management of Alport syndrome
J Savige, BS Lipska-Zietkiewicz, E Watson… - Clinical Journal of the …, 2022 - journals.lww.com
Genetic testing for pathogenic COL4A3–5 variants is usually undertaken to investigate the
cause of persistent hematuria, especially with a family history of hematuria or kidney function …
cause of persistent hematuria, especially with a family history of hematuria or kidney function …
Discovery and prioritization of variants and genes for kidney function in> 1.2 million individuals
Genes underneath signals from genome-wide association studies (GWAS) for kidney
function are promising targets for functional studies, but prioritizing variants and genes is …
function are promising targets for functional studies, but prioritizing variants and genes is …
Prevalence estimates of predicted pathogenic COL4A3–COL4A5 variants in a population sequencing database and their implications for Alport syndrome
Background The reported prevalence of Alport syndrome varies from one in 5000 to one in
53,000 individuals. This study estimated the frequencies of predicted pathogenic COL4A3 …
53,000 individuals. This study estimated the frequencies of predicted pathogenic COL4A3 …