Evidence map›Paper›PMID 27401223›Full record

SynthesisThe pharmacogenomics journal2016

Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.

M R Boland, N P Tatonetti

Open access · hybridAbstract readSystematic Review
In one paragraph

Synthesis in The pharmacogenomics journal, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
41citing papers in PubMed, 2 pooled it
4.7field-weighted citation impact, top 5% 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

41 citing papers in PubMed, 2 syntheses or guidelines pooled it, 65 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Article
  5. Article
  6. Sterol biosynthesis, brain development, and disease.The Journal of clinical investigation · 2026
    Review
  7. Article
  8. Article
  9. Developmental sterol biosynthesis inhibition: are prescription medications as safe as we think?Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2026
    Article
  10. Article
  11. Article
  12. Review
  13. Article
  14. Chemical Mechanisms of Lipid Peroxidation.Redox biochemistry and chemistry · 2025
    Article
  15. Review
  16. Article
  17. Article
  18. Review
  19. Article
  20. 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

2 authors at 1 institution in 1 country.

M R BolandDepartment of Biomedical Informatics, Columbia University, New York, NY, USA.
N P TatonettiDepartment of Biomedical Informatics, Columbia University, New York, NY, USA.
Columbia University · US

Funding

Training in Biomedical Informatics at Columbia UniversityT15LM007079 · NLM · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI NOEMIE ELHADAD, GEORGE M HRIPCSAK · 1992 to 2026
$28.9M
Systematic pharmacological targeting of the core mechanisms responsible for maintaining cancer cell stateU54CA209997 · NCI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CALIFANO, ANDREA, HONIG, BARRY H · 2016 to 2021
$10.9M
Drug Effect Discovery Through Data Mining and Integrative Chemical BiologyR01GM107145 · NIGMS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI TATONETTI, NICHOLAS P · 2014 to 2018
$2.5M
NCI NIH HHS U54 CA209997NIGMS NIH HHS R01 GM107145NLM NIH HHS T15 LM007079
6 · The paper itself

Abstract

Mendelian diseases contain important biological information regarding developmental effects of gene mutations that can guide drug discovery and toxicity efforts. In this review, we focus on Smith-Lemli-Opitz syndrome (SLOS), a rare Mendelian disease characterized by compound heterozygous mutations in 7-dehydrocholesterol reductase (DHCR7) resulting in severe fetal deformities. We present a compilation of SLOS-inducing DHCR7 mutations and the geographic distribution of those mutations in healthy and diseased populations. We observed that several mutations thought to be disease causing occur in healthy populations, indicating an incomplete understanding of the condition and highlighting new research opportunities. We describe the functional environment around DHCR7, including pharmacological DHCR7 inhibitors and cholesterol and vitamin D synthesis. Using PubMed, we investigated the fetal outcomes following prenatal exposure to DHCR7 modulators. First-trimester exposure to DHCR7 inhibitors resulted in outcomes similar to those of known teratogens (50 vs 48% born-healthy). DHCR7 activity should be considered during drug development and prenatal toxicity assessment.

Indexed as

MutationPharmacogeneticsAbnormalities, Drug-InducedAnimalsCholesterolEnzyme InhibitorsEvolution, MolecularFemaleGene FrequencyGenetic DriftGenetic Predisposition to DiseaseHeredityHumansMaternal ExposureOxidoreductases Acting on CH-CH Group DonorsPhenotype7-dehydrocholesterol reductaseCholesterolEnzyme InhibitorsOxidoreductases Acting on CH-CH Group DonorsVitamin D

Identifiers

PMID27401223
PMCPMC5028238
OpenAlexW2468600549

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-SA
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.