Evidence map›Paper›PMID 40631482›Full record

ArticleJournal of proteome research2025

Altered Cerebrospinal Fluid Proteins in Smith-Lemli-Opitz Syndrome.

Wenping Li, Melissa R Pergande, Fidel Serna-Perez, Vinayak Patel, Christopher A Crutchfield, Brian C Searle, Jaqueline A Picache, Nicole M Farhat, Christopher A Wassif, Peter S Backlund and 6 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of proteome research, 2025. 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
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. 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

16 authors.

Wenping LiDepartment of Chemistry, University of Illinois Chicago, Chicago, Illinois 60607, United States.ORCID 0000-0001-5917-5380
Melissa R PergandeDepartment of Chemistry, University of Illinois Chicago, Chicago, Illinois 60607, United States.ORCID 0000-0003-1197-4057
Fidel Serna-PerezDepartment of Chemistry, University of Illinois Chicago, Chicago, Illinois 60607, United States.
Vinayak PatelDepartment of Chemistry, University of Illinois Chicago, Chicago, Illinois 60607, United States.
Christopher A CrutchfieldDivision of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland 20879, United States.
Brian C SearleDepartment of Biomedical Informatics, The Ohio State University Medical Center, Columbus, Ohio 43210, United States.
Jaqueline A PicacheDivision of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland 20879, United States.
Nicole M FarhatDivision of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland 20879, United States.
Christopher A WassifDivision of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland 20879, United States.
Peter S BacklundDivision of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland 20879, United States.
Simona BianconiDivision of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland 20879, United States.
Karel PacakDivision of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland 20879, United States.
Bethany A FreelCellular Therapies and Stem Cell Biology Group, Sanford Research, Sioux Falls, South Dakota 57104, United States.
Kevin R FrancisCellular Therapies and Stem Cell Biology Group, Sanford Research, Sioux Falls, South Dakota 57104, United States.ORCID 0000-0002-3636-7264
Forbes D PorterDivision of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland 20879, United States.
Stephanie M ColognaDepartment of Chemistry, University of Illinois Chicago, Chicago, Illinois 60607, United States.ORCID 0000-0002-3541-3361

Funding

Yeast 2 HybridP20GM103620 · NIGMS · SANFORD RESEARCH/USD · PI ROUX, KYLE J · 2013 to 2023
$24.2M
NIGMS NIH HHS P20 GM103620
6 · The paper itself

Abstract

Smith-Lemli-Opitz Syndrome (SLOS) is a rare, autosomal recessive, neurocognitive disorder caused by pathological variants in the 7-dehydrocholesterol reductase gene (

Indexed as

Cerebrospinal Fluid ProteinsSmith-Lemli-Opitz SyndromeAdolescentAdultBiomarkersCase-Control StudiesCell Adhesion Molecules, NeuronalChildDehydrocholesterolsExtracellular Matrix ProteinsFemaleHumansMaleNerve Tissue ProteinsOxidoreductases Acting on CH-CH Group DonorsProteomics7-dehydrocholesterol7-dehydrocholesterol reductaseBiomarkersCell Adhesion Molecules, NeuronalCerebrospinal Fluid ProteinsDehydrocholesterolsExtracellular Matrix ProteinsNerve Tissue ProteinsOxidoreductases Acting on CH-CH Group DonorsReelin ProteinRELN protein, humanSerine Endopeptidasesgranin familyinborn error of cholesterol synthesisisobaric labelingprotein biomarkerrare neurocognitive diseasereelin

Identifiers

PMID40631482
PMCPMC12329766

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.