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Article

ROBO2 gene variants are associated with familial vesicoureteral reflux.

Journal of the American Society of Nephrology : JASN - 1 Apr 2008

Bertoli-Avella Aida M, Conte Maria Luisa, Punzo Francesca, de Graaf Bianca M, Lama Giuliana, La Manna Angela, Polito Cesare, Grassia Carolina, Nobili Bruno, Rambaldi Pier Francesco, Oostra Ben A, Perrotta Silverio

Abstract excerpt

The SLIT2 receptor ROBO2 plays a key role in the formation of the ureteric bud, and its inactivation in mice leads to supernumerary ureteric bud development, lack of ureter remodeling, and improper insertion of the ureters into the bladder. Recently, two heterozygous ROBO2 missense mutations were identified in two families with primary vesicoureteral reflux occurring in combination with congenital anomalies of...

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Identifiers

PMID: 18235093
DOI: 10.1681/ASN.2007060692
PMCID: PMC2390967

Genes

ROBO2
SLIT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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ROBO2 gene variants are associated with familial vesicoureteral reflux.PMID 18235093Read ↗

Mutations in the ROBO2 and SLIT2 genes are rare causes of familial vesico-ureteral reflux.Semantic proximity Read ↗

Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.Semantic proximity Read ↗

Heterozygous non-synonymous ROBO2 variants are unlikely to be sufficient to cause familial vesicoureteric reflux.Semantic proximity Read ↗

Rare variants in tenascin genes in a cohort of children with primary vesicoureteric reflux.Semantic proximity Read ↗

ROBO2 gene variants in children with primary nonsyndromic vesicoureteral reflux with or without renal hypoplasia/dysplasia.Semantic proximity Read ↗

Responsible genes in children with primary vesicoureteral reflux: findings from the Chinese Children Genetic Kidney Disease Database.Semantic proximity Read ↗

Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral RefluxSemantic proximity Read ↗

Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients.Semantic proximity Read ↗

Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.Semantic proximity Read ↗

Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations in familial vesicoureteral reflux.Semantic proximity Read ↗

Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux.Semantic proximity Read ↗

PAX2 polymorphisms and congenital abnormalities of the kidney and urinary tract in a Brazilian pediatric population: evidence for a role in vesicoureteral reflux.Semantic proximity Read ↗

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