Genetic kidney diseases as an underrecognized cause of chronic kidney disease: the key role of international registry reports

R Torra, M Furlano, A Ortiz, E Ars - Clinical kidney journal, 2021 - academic.oup.com
Inherited kidney diseases (IKDs) are among the leading causes of early-onset chronic
kidney disease (CKD) and are responsible for at least 10–15% of cases of kidney …

[PDF][PDF] Spatial transcriptional mapping of the human nephrogenic program

NO Lindström, R Sealfon, X Chen, RK Parvez… - Developmental cell, 2021 - cell.com
Congenital abnormalities of the kidney and urinary tract are among the most common birth
defects, affecting 3% of newborns. The human kidney forms around a million nephrons from …

An intermediate-effect size variant in UMOD confers risk for chronic kidney disease

E Olinger, C Schaeffer, K Kidd… - Proceedings of the …, 2022 - National Acad Sciences
The kidney-specific gene UMOD encodes for uromodulin, the most abundant protein
excreted in normal urine. Rare large-effect variants in UMOD cause autosomal dominant …

Hypertension and renin-angiotensin system blockers are not associated with expression of angiotensin-converting enzyme 2 (ACE2) in the kidney

X Jiang, JM Eales, D Scannali… - European heart …, 2020 - academic.oup.com
Aims Angiotensin-converting enzyme 2 (ACE2) is the cellular entry point for severe acute
respiratory syndrome coronavirus (SARS-CoV-2)—the cause of coronavirus disease 2019 …

[HTML][HTML] Unraveling the epigenetic code: human kidney DNA methylation and chromatin dynamics in renal disease development

Y Yan, H Liu, A Abedini, X Sheng, M Palmer… - Nature …, 2024 - nature.com
Epigenetic changes may fill a critical gap in our understanding of kidney disease
development, as they not only reflect metabolic changes but are also preserved and …

Genetically predicted sex hormone levels and health outcomes: phenome-wide Mendelian randomization investigation

S Yuan, L Wang, J Sun, L Yu, X Zhou… - International journal …, 2022 - academic.oup.com
Background Sex hormone-binding globulin (SHBG), testosterone and oestradiol have been
associated with many diseases in observational studies; however, the causality of …

[HTML][HTML] Integrative genome-wide analyses identify novel loci associated with kidney stones and provide insights into its genetic architecture

X Hao, Z Shao, N Zhang, M Jiang, X Cao, S Li… - Nature …, 2023 - nature.com
Kidney stone disease (KSD) is a complex disorder with high heritability and prevalence. We
performed a large genome-wide association study (GWAS) meta-analysis for KSD to date …

[HTML][HTML] Genetically predicted education attainment in relation to somatic and mental health

S Yuan, Y Xiong, M Michaëlsson, K Michaëlsson… - Scientific reports, 2021 - nature.com
A deeper understanding of the causal links from education level to health outcomes may
shed a light for disease prevention. In the present Mendelian randomization study, we found …

[HTML][HTML] Imputation-powered whole-exome analysis identifies genes associated with kidney function and disease in the UK Biobank

M Wuttke, E König, MA Katsara, H Kirsten… - Nature …, 2023 - nature.com
Genome-wide association studies have discovered hundreds of associations between
common genotypes and kidney function but cannot comprehensively investigate rare coding …

2024 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association

SS Martin, AW Aday, ZI Almarzooq, CAM Anderson… - Circulation, 2024 - Am Heart Assoc
BACKGROUND: The American Heart Association (AHA), in conjunction with the National
Institutes of Health, annually reports the most up-to-date statistics related to heart disease …