ReviewJournal of pediatric genetics2016
Developmental Genetics and Congenital Anomalies of the Kidney and Urinary Tract.
Review in Journal of pediatric genetics, 2016. 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 abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed, 47 citations in OpenAlex.
- Cystatin C as a Renal Biomarker in Infants with Congenital Anomalies of the Kidney and Urinary Tract (CAKUT): A Systematic Review.Diagnostics (Basel, Switzerland) · 2026Review
- Dual-Level Ureteral Obstruction in Children: A Systematic Review Highlighting Diagnostic Challenges and Optimal Surgical Strategy.Children (Basel, Switzerland) · 2026Review
- Multicystic dysplastic kidneys (MCDK) during prenatal life and postnatal outcome.Archives of gynecology and obstetrics · 2025Article
- Etiology and outcomes of fetal renal abnormalities in Southern China: a single-tertiary-center study.Orphanet journal of rare diseases · 2025Article
- Article
- Complex Management of Bilateral Congenital Hydronephrosis in a Pediatric Patient: A Multidisciplinary Approach.Healthcare (Basel, Switzerland) · 2025Article
- Pediatric nephrologists' perspectives and clinical practices related to genetic testing and education.Pediatric nephrology (Berlin, Germany) · 2025Article
- Chronic kidney disease.Nature reviews. Disease primers · 2025Review
- Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES).Archives of gynecology and obstetrics · 2024Article
- Deep learning prediction of renal anomalies for prenatal ultrasound diagnosis.Scientific reports · 2024Article
- Comprehensive analysis of the relationship between xanthine oxidoreductase activity and chronic kidney disease.iScience · 2023Article
- Improving renal phenotype and evolving extra-renal features of 17q12 deletion encompassing theTranslational pediatrics · 2021Article
- Intrauterine Low-Protein Diet Exacerbates Abnormal Development of the Urinary System inKidney diseases (Basel, Switzerland) · 2021Article
- The First Thousand Days: Kidney Health and Beyond.Healthcare (Basel, Switzerland) · 2021Review
- Mutational analysis of genes with ureteric progenitor cell-specific expression in branching morphogenesis of the mouse kidney.Developmental dynamics : an official publication of the American Association of Anatomists · 2020Article
- Is voiding cystourethrography necessary for evaluating unilateral ectopic pelvic kidney?Turkish journal of urology · 2019Article
- Morphogenesis of the kidney and lung requires branch-tip directed activity of the Adamts18 metalloprotease.Developmental biology · 2019Article
- Prenatal genetic considerations of congenital anomalies of the kidney and urinary tract (CAKUT).Prenatal diagnosis · 2019Review
- Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.Human molecular genetics · 2019Article
- Microarray analysis in pregnancies with isolated unilateral kidney agenesis.Pediatric research · 2018Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital anomalies of the kidney and urinary tract (CAKUT) are common birth defects and the leading cause of end-stage renal disease in children. There is a wide spectrum of renal abnormalities, from mild hydronephrosis to more severe cases, such as bilateral renal dysplasia. The etiology of the majority of cases of CAKUT remains unknown, but there is increasing evidence that genomic imbalance contributes to the pathogenesis of CAKUT. Advances in human and mouse genetics have contributed to increased understanding of the pathophysiology of CAKUT. Mutations in genes involved in both transcription factors and signal transduction pathways involved in renal development are associated with CAKUT. Large cohort studies suggest that copy number variants, genomic, or de novo mutations may explain up to one-third of all cases of CAKUT. One of the major challenges to the use of genetic information in the clinical setting remains the lack of strict genotype-phenotype correlation. However, identifying genetic causes of CAKUT may lead to improved diagnosis of extrarenal complications. With the advent of decreasing costs for whole genome and exome sequencing, future studies focused on genotype-phenotype correlations, gene modifiers, and animal models of gene mutations will be needed to translate genetic advances into improved clinical care.
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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.