Evidence map›Paper›PMID 40803372›Full record

ReviewNeurochemistry international2025

Epigenetic dysregulation and the etiology of spina bifida.

Tabitha Lumour-Mensah, Susan Korrick, Bernardo Lemos, Maitreyi Mazumdar

Abstract readReview
In one paragraph

Review in Neurochemistry international, 2025. 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
–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

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.

  1. Article
  2. Review
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

4 authors.

Tabitha Lumour-MensahDepartment of Environmental Health, Harvard T.H. Chan School of Public Health, Boston, MA 02115, United States of America. Electronic address: tlumourmensah@hsph.harvard.edu.
Susan KorrickDepartment of Environmental Health, Harvard T.H. Chan School of Public Health, Boston, MA 02115, United States of America; Channing Division of Network Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, United States of America. Electronic address: susan.korrick@channing.harvard.edu.
Bernardo LemosDepartment of Environmental Health, Harvard T.H. Chan School of Public Health, Boston, MA 02115, United States of America; R. Ken Coit College of Pharmacy, The University of Arizona, Tucson, AZ 85721, United States of America. Electronic address: blemos@pharmacy.arizona.edu.
Maitreyi MazumdarDepartment of Environmental Health, Harvard T.H. Chan School of Public Health, Boston, MA 02115, United States of America; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, United States of America. Electronic address: maitreyi.mazumdar@childrens.harvard.edu.

Funding

Translational Research Support CoreP30ES000002 · NIEHS · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI SUSAN A KORRICK · 1985 to 2026
$44.6M
Training Program in Environmental EpidemiologyT32ES007069 · NIEHS · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI LADEN, FRANCINE · 1985 to 2024
$13.9M
Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI SCOTT Loren POMEROY, MUSTAFA SAHIN · 2021 to 2026
$9.4M
Interdisciplinary approaches for understanding how arsenic and micronutrients affect the epigenome to influence spina bifida riskR01ES034713 · NIEHS · BOSTON CHILDREN'S HOSPITAL · PI MAZUMDAR, MAITREYI · 2023 to 2025
$2.3M
Novel markers of exposure and pathways of response to ChromiumR01ES027981 · NIEHS · UNIVERSITY OF ARIZONA · PI LEMOS, BERNARDO · 2018 to 2022
$2.0M
Examining tissue-specific DNA methylation after prenatal exposure to arsenic among infants with spina bifidaR21ES030784 · NIEHS · BOSTON CHILDREN'S HOSPITAL · PI MAZUMDAR, MAITREYI · 2020 to 2021
$497k
NICHD NIH HHS P50 HD105351NIEHS NIH HHS P30 ES000002NIEHS NIH HHS R01 ES027981NIEHS NIH HHS R01 ES034713NIEHS NIH HHS R21 ES030784NIEHS NIH HHS T32 ES007069
6 · The paper itself

Abstract

Spina bifida is a complex and multifactorial congenital defect driven by both genetic and environmental factors. As such, epigenetic studies of spina bifida present an opportunity to study the joint contribution of both genes and the environment in the development of this disorder. This review focuses specifically on epigenetic research that may help us to understand the ways in which dysregulation of the epigenome and downstream cellular processes can confer increased risk of spina bifida. To do so, we discuss the epigenetic regulation of genes linked to spina bifida risk among children born with the disorder and their parents as well as evidence from experimental studies. We also discuss pathways necessary for normal neural tube development and specific documented dysregulation of these pathways in individuals with spina bifida. We conclude that the epigenome plays an important role in spina bifida etiology and should be further studied in additional populations, and tissue types, as well as cellular and animal models.

Indexed as

Epigenesis, GeneticSpinal DysraphismAnimalsHumansDNA methylationEpigeneticsHistone modificationMicro RNASpina bifida

Identifiers

PMID40803372
PMCPMC12412633

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.