ArticleNature communications2016
Genetic link between renal birth defects and congenital heart disease.
Article in Nature communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 42 papers, 2 of them syntheses that pooled it.
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Who cites it
42 citing papers in PubMed, 2 syntheses or guidelines pooled it, 77 citations in OpenAlex.
- Prevalence and Clustering of Congenital Heart Defects Among Boys With Hypospadias.JAMA network open · 2022Pooled it
- The association of neurodevelopmental abnormalities, congenital heart and renal defects in a tuberous sclerosis complex patient cohort.BMC medicine · 2022Pooled it
- Screening of pediatric patients with congenital anomalies of the kidney and urinary tract for associated congenital heart disease in a tertiary care setting.Pediatric nephrology (Berlin, Germany) · 2026Article
- Prenatal Diagnosis of Ververi-Brady Syndrome Associated With a Novel Nonsense QRICH1 Variant: A Case Presentation.Prenatal diagnosis · 2026Article
- A disrupted compartment boundary underlies abnormal cardiac patterning and congenital heart defects.Nature cardiovascular research · 2026Article
- Genomic spectrum of congenital heart disease combined with kidney and urinary tract anomalies uncovered by exome sequencing and array-CGH.Frontiers in cell and developmental biology · 2026Article
- Exome analysis links kidney malformations to developmental disorders and reveals causal genes.Nature communications · 2025Article
- Kidney Transplantation in Congenital Heart Disease Patients: What Are the Outcomes?Pediatric transplantation · 2025Article
- Ureter development and associated congenital anomalies.Nature reviews. Nephrology · 2025Review
- QRICH1 regulates ATF6 transcription to affect pathological cardiac hypertrophy progression.Molecular medicine (Cambridge, Mass.) · 2025Article
- Development of LncRNA Biomarkers in Extracellular Vesicle of Amniotic Fluid Associated with Antenatal Hydronephrosis.Biomedicines · 2025Article
- Live birth prevalence of major congenital anomalies in the United Arab Emirates.Scientific reports · 2025Article
- Optimising Access to Care for Patients with Heart and Kidney Diseases: A World Heart Federation and International Society of Nephrology White Paper.Global heart · 2025Review
- Permanent deconstruction of intracellular primary cilia in differentiating granule cell neurons.The Journal of cell biology · 2024Article
- Permanent deconstruction of intracellular primary cilia in differentiating granule cell neurons.bioRxiv : the preprint server for biology · 2023Article
- An Anterior Second Heart Field Enhancer Regulates the Gene Regulatory Network of the Cardiac Outflow Tract.Circulation · 2023Article
- The genetics and pathogenesis of CAKUT.Nature reviews. Nephrology · 2023Review
- Genetic Spectrum of Congenital Anomalies of the Kidney and Urinary Tract in Chinese Newborn Genome Project.Kidney international reports · 2023Article
- A novel variant in the QRICH1 gene was identified in a patient with severe developmental delay.Molecular genetics & genomic medicine · 2023Article
- The evolution of the discrete multirenculate kidney in mammals from ecological and molecular perspectives.Genome biology and evolution · 2023Article
Corrections and comments
- Erratum issued
Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
Structural birth defects in the kidney and urinary tract are observed in 0.5% of live births and are a major cause of end-stage renal disease, but their genetic aetiology is not well understood. Here we analyse 135 lines of mice identified in large-scale mouse mutagenesis screen and show that 29% of mutations causing congenital heart disease (CHD) also cause renal anomalies. The renal anomalies included duplex and multiplex kidneys, renal agenesis, hydronephrosis and cystic kidney disease. To assess the clinical relevance of these findings, we examined patients with CHD and observed a 30% co-occurrence of renal anomalies of a similar spectrum. Together, these findings demonstrate a common shared genetic aetiology for CHD and renal anomalies, indicating that CHD patients are at increased risk for complications from renal anomalies. This collection of mutant mouse models provides a resource for further studies to elucidate the developmental link between renal anomalies and CHD.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.