ArticleAmerican journal of human genetics2007
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.
Article in American journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 113 papers.
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Who cites it
113 citing papers in PubMed, 213 citations in OpenAlex.
- Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.Human genetics · 2015Trial
- Stromal and Neuronal Sources of Slit2/3 Ligands in the Adult Pancreas Exhibit Distinct Expression Patterns Independent of Robo2 Receptor Expression in the Islet.bioRxiv : the preprint server for biology · 2026Article
- Endothelial Slit2 guides the Robo1-positive sympathetic innervation during heart development.eLife · 2025Article
- Oculomotor axons use external and autocrine Slit signals for fasciculation, navigation, branching, and connectivity in mouse embryos.Research square · 2025Article
- Case Report: Prolonged survival in Schinzel-Giedion syndrome featuring megaureter andFrontiers in pediatrics · 2025Article
- Pathophysiology of Congenital Anomalies of the Kidney and Urinary Tract: A Comprehensive Review.Cells · 2024Review
- GEN1 as a risk factor for human congenital anomalies of the kidney and urinary tract.Human genomics · 2024Article
- A preliminary study of the miRNA restitution effect on CNV-induced miRNA downregulation in CAKUT.BMC genomics · 2024Article
- Islet architecture in adult mice is actively maintained by Robo2 expression in β cells.Developmental biology · 2024Article
- The genetics and pathogenesis of CAKUT.Nature reviews. Nephrology · 2023Review
- Role of the SLIT-ROBO signaling pathway in renal pathophysiology and various renal diseases.Frontiers in physiology · 2023Review
- Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract American Journal of Medical Genetics Part C.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms.Human molecular genetics · 2022Article
- Slit-Robo signalling establishes a Sphingosine-1-phosphate gradient to polarise fin mesenchyme.EMBO reports · 2022Article
- An ancient founder mutation located betweenProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.Kidney international · 2022Article
- Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations in familial vesicoureteral reflux.PloS one · 2022Article
- A genome-wide scan to locate regions associated with familial vesicoureteral reflux.Experimental and therapeutic medicine · 2022Article
- Synaptogenic activity of the axon guidance molecule Robo2 underlies hippocampal circuit function.Cell reports · 2021Article
- Heritability and De Novo Mutations in Oesophageal Atresia and Tracheoesophageal Fistula Aetiology.Genes · 2021Review
53 more citing papers are in PubMed but not listed here.
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Authors and funding
27 authors at 15 institutions in 6 countries.
Funding
Abstract
Congenital anomalies of the kidney and urinary tract (CAKUT) include vesicoureteral reflux (VUR). VUR is a complex, genetically heterogeneous developmental disorder characterized by the retrograde flow of urine from the bladder into the ureter and is associated with reflux nephropathy, the cause of 15% of end-stage renal disease in children and young adults. We investigated a man with a de novo translocation, 46,X,t(Y;3)(p11;p12)dn, who exhibits multiple congenital abnormalities, including severe bilateral VUR with ureterovesical junction defects. This translocation disrupts ROBO2, which encodes a transmembrane receptor for SLIT ligand, and produces dominant-negative ROBO2 proteins that abrogate SLIT-ROBO signaling in vitro. In addition, we identified two novel ROBO2 intracellular missense variants that segregate with CAKUT and VUR in two unrelated families. Adult heterozygous and mosaic mutant mice with reduced Robo2 gene dosage also exhibit striking CAKUT-VUR phenotypes. Collectively, these results implicate the SLIT-ROBO signaling pathway in the pathogenesis of a subset of human VUR.
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