Evidence map›Paper›PMID 29923154›Full record

ArticleMolecular biology reports2018

Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect.

Amélie Pinard, Nathalie Eudes, Julia Mitchell, Fanny Bajolle, Maude Grelet, Joséphine Okoronkwo, Damien Bonnet, Gwenaelle Collod-Béroud, Stéphane Zaffran

Abstract read
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In one paragraph

Article in Molecular biology reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact, top 95% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. Article
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

9 authors at 2 institutions in 2 countries.

Amélie PinardAix Marseille Université, INSERM U1251, MMG, Marseille, France.
Nathalie EudesAix Marseille Université, INSERM U1251, MMG, Marseille, France.
Julia MitchellAix Marseille Université, INSERM U1251, MMG, Marseille, France.
Fanny BajolleCentre de Référence Malformations Cardiaques Congénitales Complexes (M3C), Unité Médico-Chirurgicale de Cardiologie Congénitale et Pédiatrique, AP-HP, Hôpital Necker-Enfants-Malades, Paris, France.
Maude GreletAix Marseille Université, INSERM U1251, MMG, Marseille, France.
Joséphine OkoronkwoCentre de Référence Malformations Cardiaques Congénitales Complexes (M3C), Unité Médico-Chirurgicale de Cardiologie Congénitale et Pédiatrique, AP-HP, Hôpital Necker-Enfants-Malades, Paris, France.
Damien BonnetCentre de Référence Malformations Cardiaques Congénitales Complexes (M3C), Unité Médico-Chirurgicale de Cardiologie Congénitale et Pédiatrique, AP-HP, Hôpital Necker-Enfants-Malades, Paris, France.
Gwenaelle Collod-BéroudAix Marseille Université, INSERM U1251, MMG, Marseille, France.
Stéphane ZaffranAix Marseille Université, INSERM U1251, MMG, Marseille, France. stephane.zaffran@univ-amu.fr.ORCID http://orcid.org/0000-0002-0811-418X
Inserm · FRDélégation Paris 5 · FR

Funding

AFM-Téléthon MNH-DecryptAgence Nationale de la Recherche ANR-13-BSV2-0003
6 · The paper itself

Abstract

Ventricular septal defect (VSD) including outlet VSD of double outlet right ventricle (DORV) and perimembranous VSD are among the most common congenital heart diseases found at birth. HOXB1 encodes a homeodomain transcription factor essential for normal cardiac outflow tract development. The aim of the present study was to investigate the possible genetic effect of sequence variations in HOXB1 on VSD. The coding regions and splice junctions of the HOXB1 gene were sequenced in 57 unrelated VSD patients. As a result, a homozygous c.74_82dup (p.Pro28delinsHisSerAlaPro) variant was identified in one individual with DORV. We also identified five previously reported polymorphisms (rs35114525, rs12946855, rs14534040, rs12939811, and rs7207109) in 18 patients (12 DORV and 6 perimembranous VSD). Our study did not show any pathogenic alterations in the coding region of HOXB1 among patients with VSD. To our knowledge this is the first study investigating the role of HOXB1 in nonsyndromic VSD, which provide more insight on the etiology of this disease.

Indexed as

ChildChild, PreschoolCohort StudiesDouble Outlet Right VentricleFemaleHeart Defects, CongenitalHeart Septal Defects, VentricularHomeodomain ProteinsHumansMaleTranscription FactorsHomeodomain ProteinsHOXB1 homeodomain proteinTranscription FactorsCongenital heart diseaseGeneticsHOXB1VariantVentricular septal defect

Identifiers

PMID29923154
OpenAlexW2809223583

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.