ReviewMolecular and cellular pediatrics2021
Molecular causes of congenital anomalies of the kidney and urinary tract (CAKUT).
Review in Molecular and cellular pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
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The trial behind it
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Who cites it
22 citing papers in PubMed, 60 citations in OpenAlex.
- Multi-organ single-cell analysis of preferential expression of CAKUT genes.BMC nephrology · 2026Article
- Dose-Dependent and Non-Autonomous Signaling in CAKUT: A Lineage-Specific Framework from Conditional Knockout Studies.Biomolecules · 2026Review
- From Genes to Malformations: Molecular Mechanisms Driving the Pathogenesis of Congenital Anomalies of the Kidney and Urinary Tract.International journal of molecular sciences · 2025Review
- Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).European journal of human genetics : EJHG · 2025Article
- TFAP2A orchestrates gene regulatory networks and tubular architecture in kidney outer medullary collecting ducts.JCI insight · 2025Article
- Extrarenal Clinical Features are Reported for Most Genes Implicated in Genetic Kidney Disease.Kidney international reports · 2025Article
- Collagen formation, function and role in kidney disease.Nature reviews. Nephrology · 2025Review
- Wnt/β-Catenin Signaling and Congenital Abnormalities of Kidney and Urinary Tract.Kidney diseases (Basel, Switzerland) · 2024Review
- Frameshift Mutation in PAX2 Related to Focal Segmental Glomerular Sclerosis: A Case Report and Literature Review.Molecular genetics & genomic medicine · 2024Review
- Pathogenic PHIP Variants are Variably Associated With CAKUT.Kidney international reports · 2024Article
- Expression Profiles of ITGA8 and VANGL2 Are Altered in Congenital Anomalies of the Kidney and Urinary Tract (CAKUT).Molecules (Basel, Switzerland) · 2024Article
- GEN1 as a risk factor for human congenital anomalies of the kidney and urinary tract.Human genomics · 2024Article
- Associations between maternal chronic diseases and congenital anomalies of the kidney and urinary tract in offspring: a population-based cohort study.Clinical kidney journal · 2023Article
- A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract.American journal of medical genetics. Part A · 2023Article
- Genetic spectrum of CAKUT and risk factors for kidney failure: a pediatric multicenter cohort study.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2022Article
- Rac1 deficiency impairs postnatal development of the renal papilla.Scientific reports · 2022Article
- Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2022Article
- Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.American journal of medical genetics. Part A · 2022Article
- Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations.Kidney international · 2022Review
- A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract.American journal of medical genetics. Part A · 2022Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital anomalies of the kidney and urinary tract (CAKUT) occur in 0.5-1/100 newborns and as a group they represent the most frequent cause for chronic kidney failure in children. CAKUT comprise clinically heterogeneous conditions, ranging from mild vesicoureteral reflux to kidney aplasia. Most forms of CAKUT share the pathophysiology of an impaired developmental interaction of the ureteric bud (UB) and the metanephric mesenchyme (MM). In most cases, CAKUT present as an isolated condition. They also may occur as a component in rare multi-organ syndromes. Many CAKUT probably have a multifactorial etiology. However, up to 20% of human patients and > 200 transgenic mouse models have a monogenic form of CAKUT, which has fueled our efforts to unravel molecular kidney (mal-)development. To date, genetic variants in more than 50 genes have been associated with (isolated) CAKUT in humans. In this short review, we will summarize typical imaging findings in patients with CAKUT and highlight recent mechanistic insight in the molecular pathogenesis of monogenic forms of CAKUT.
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Registered trials
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.