Evidence map›Paper›PMID 27002985›Full record

ArticlePediatric research2016

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

Artemis G Mitsioni, Ekaterini Siomou, Ioanna Bouba, Stavroula Petridi, Antigoni Siamopoulou, Ioannis Georgiou

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Article in Pediatric research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.7field-weighted citation impact, top 19% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 12 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 2 institutions in 1 country.

Artemis G MitsioniLaboratory of Medical Genetics and Human Reproduction, School of Health Sciences, Faculty of Medicine University of Ioannina, Ioannina, Greece.
Ekaterini SiomouDepartment of Pediatrics, University Hospital of Ioannina, Ioannina, Greece.
Ioanna BoubaLaboratory of Medical Genetics and Human Reproduction, School of Health Sciences, Faculty of Medicine University of Ioannina, Ioannina, Greece.
Stavroula PetridiLaboratory of Medical Genetics and Human Reproduction, School of Health Sciences, Faculty of Medicine University of Ioannina, Ioannina, Greece.
Antigoni SiamopoulouDepartment of Pediatrics, University Hospital of Ioannina, Ioannina, Greece.
Ioannis GeorgiouLaboratory of Medical Genetics and Human Reproduction, School of Health Sciences, Faculty of Medicine University of Ioannina, Ioannina, Greece.
University of Ioannina · GRUniversity Hospital of Ioannina · GR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPrimary nonsyndromic vesicoureteral reflux (VUR) and VUR with renal hypoplasia/dysplasia (VUR-RHD) are common congenital anomalies of the kidney and urinary tract (CAKUT). Sequence variations of the ROBO2 gene were investigated in children with nonsyndromic VUR or VUR-RHD.

methodsSingle-strand conformation polymorphism (SSCP) electrophoresis or multiple restriction fragment SSCP (MRF-SSCP), followed occasionally by direct sequencing, was used to screen 103 patients and 200 controls for nucleotide changes. Gene polymorphisms and transposable elements were investigated using bioinformatics.

resultsTwo single-nucleotide polymorphisms were detected: IVS1-53 and IVS5-31. The frequency of A allele of IVS1-53G>A did not differ significantly between patients and controls. IVS1-53 does not affect mRNA splicing according to in silico analysis. IVS5-31A>G substitution was found in one patient, reported here for the first time in VUR. In silico results demonstrated alteration in two serine/arginine-rich (SR) protein-binding sites and two additional acceptor sites. The ROBO2 gene sequence was found to contain 25.9% transposable elements.

conclusionROBO2 variants were not found to be associated with nonsyndromic VUR or VUR-RHD, providing further evidence for genetic heterogeneity. The role of transposable elements in ROBO2 gene expression in CAKUT needs further investigation since they are generally considered to be mutagens.

Indexed as

Polymorphism, Single NucleotideAllelesBinding SitesCase-Control StudiesChild, PreschoolComputational BiologyDNA Transposable ElementsFemaleGene FrequencyGenetic Predisposition to DiseaseGenotypeHumansInfantKidney DiseasesMaleNucleotidesDNA Transposable ElementsNucleotidesReceptors, ImmunologicROBO2 protein, humanRoundabout Proteins

Identifiers

PMID27002985
OpenAlexW2307647595

What OpenQuestion holds

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Registered trials

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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.