Evidence mapPaperPMID 41226629Full record

ArticleInternational journal of molecular sciences2025

Maternal Genotype and Dietary Vitamin A Modify Aortic Arch Phenotypes in a Mouse Model of 22q11DS.

Emilia Amengual-Cladera, Maria Victòria Llull-Alberti, Marc Ventayol-Guirado, Juan Antonio Jimenez-Barcelo, Jairo Enrique Rocha, Josep Muncunill, Jessica Hernandez-Rodriguez, Daniela Medina-Chávez, Elionor Lynton-Pons, Paula Sureda-Horrach and 11 more

Abstract read
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Article in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
field-weighted citation impact
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

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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

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4 · The record

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5 · Who and what money

Authors and funding

21 authors.

Emilia Amengual-CladeraGenomics of Health Research Group, Institute of Health Sciences Research of the Balearic Islands (IdISBa), 07120 Palma, Balearic Islands, Spain.ORCID 0000-0003-4795-316X
Maria Victòria Llull-AlbertiGenomics of Health Research Group, Institute of Health Sciences Research of the Balearic Islands (IdISBa), 07120 Palma, Balearic Islands, Spain.
Marc Ventayol-GuiradoGenomics of Health Research Group, Institute of Health Sciences Research of the Balearic Islands (IdISBa), 07120 Palma, Balearic Islands, Spain.ORCID 0000-0003-4229-2737
Juan Antonio Jimenez-BarceloGenomics of Health Research Group, Institute of Health Sciences Research of the Balearic Islands (IdISBa), 07120 Palma, Balearic Islands, Spain.ORCID 0009-0001-3404-0241
Jairo Enrique RochaGrup de Biologia Computacional i Bioinformàtica (BIOCOM), Institute of Health Sciences Research of the Balearic Islands (IdISBa), 07120 Palma, Balearic Islands, Spain.
Josep MuncunillGenomics and Bioinformatics Platform, Balearic Islands Health Research Institute (IdISBa), University Hospital Son Espases, 07120 Palma, Balearic Islands, Spain.
Jessica Hernandez-RodriguezGenomics of Health Research Group, Institute of Health Sciences Research of the Balearic Islands (IdISBa), 07120 Palma, Balearic Islands, Spain.ORCID 0000-0002-0402-286X
Daniela Medina-ChávezGenomics of Health Research Group, Institute of Health Sciences Research of the Balearic Islands (IdISBa), 07120 Palma, Balearic Islands, Spain.ORCID 0000-0001-6942-0829
Elionor Lynton-PonsGenomics of Health Research Group, Institute of Health Sciences Research of the Balearic Islands (IdISBa), 07120 Palma, Balearic Islands, Spain.ORCID 0000-0001-5375-7195
Paula Sureda-HorrachGenomics of Health Research Group, Institute of Health Sciences Research of the Balearic Islands (IdISBa), 07120 Palma, Balearic Islands, Spain.
Victor Jose AsensioGenomics of Health Research Group, Institute of Health Sciences Research of the Balearic Islands (IdISBa), 07120 Palma, Balearic Islands, Spain.
Laura Ruiz-GuerraGrupo Neurobiología, University of Balearic Islands (UIB), 07122 Palma, Balearic Islands, Spain.
Albert TubauServicio de Ginecología y Obstetricia, Hospital Universitario Son Llàtzer, 07198 Palma, Balearic Islands, Spain.ORCID 0000-0001-5460-0763
Miguel Juan-ClarServicio de Ginecología y Obstetricia, Hospital Universitario Son Llàtzer, 07198 Palma, Balearic Islands, Spain.
Marchesa BilioInstitute of Genetics and Biophysics Adriano Buzzati-Traverso, 80131 Naples, Italy.ORCID 0009-0003-7085-7317
Bernice MorrowDepartment of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
Cristófol Vives-BauzàGrupo Neurobiología, University of Balearic Islands (UIB), 07122 Palma, Balearic Islands, Spain.ORCID 0000-0001-5735-8335
Gabriella LaniaInstitute of Genetics and Biophysics Adriano Buzzati-Traverso, 80131 Naples, Italy.ORCID 0000-0003-3681-0251
Elizabeth IllingworthDepartment of Chemistry and Biology, University of Salerno, 84084 Fisciano, Italy.
Antonio BaldiniDepartment of Molecular Medicine and Medical Biotechnology, University Federico II, 80138 Naples, Italy.ORCID 0000-0002-5330-0256
Alexander Damian Heine-SuñerGenomics of Health Research Group, Institute of Health Sciences Research of the Balearic Islands (IdISBa), 07120 Palma, Balearic Islands, Spain.ORCID 0000-0001-9374-1219

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital heart defects (CHDs) occur in 50-75% of patients with 22q11.2 deletion syndrome (22q11.2DS), ranging from mild to severe manifestations. The genetic and environmental factors contributing to variable CHD phenotypes in 22q11.2DS are largely unknown. In this study, we used a mouse model of 22q11.2DS, termed Df1/+, to evaluate the effect of maternal vitamin A (VitA) dietary imbalance (supplementation or deficiency) on the incidence of aortic arch defects (AADs), which is a common type of CHD observed in both 22q11.2DS patients and Df1/+ mouse embryos. While most groups showed a previously observed 30% AAD incidence, two groups exhibited significantly higher rates: (1) Df1/+ embryos from WT mothers on a VitA-Supl diet (51% AADs) and (2) Df1/+ embryos from Df1/+ mothers on a VitA-Def diet (45% AADs). Thus, a low or high maternal VitA diet can increase the frequency of AADs in embryos depending on the maternal genotype. Transcriptomic analysis of the hearts of these high-risk embryos at embryonic day (E)18.5 revealed downregulation of key genes (

Indexed as

Aorta, ThoracicDiGeorge SyndromeHeart Defects, CongenitalVitamin AAnimalsDietDisease Models, AnimalFemaleGenotypeMaleMicePhenotypePregnancyVitamin A22q11.2 deletion syndromecongenital heart defectsvitamin A

Identifiers

PMID41226629
PMCPMC12609214

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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 Socratic graph.