Evidence map›Paper›PMID 40978119›Full record

ArticleJBMR plus2025

Transcriptomic and lipidomic profiling provide novel insight into the pathogenesis of monogenic

Sandra Pihlström, Ali Oghabian, Kirsi Määttä, Jelmer Legebeke, Riikka E Mäkitie, Philippe M Campeau, Paulien A Terhal, Lorenzo D Botto, Vesa M Olkkonen, Outi Mäkitie and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in JBMR plus, 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. PathogenicFrontiers in endocrinology · 2026
    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

11 authors.

Sandra PihlströmFolkhälsan Research Center, Institute of Genetics, 00250 Helsinki, Finland.
Ali OghabianFolkhälsan Research Center, Institute of Genetics, 00250 Helsinki, Finland.
Kirsi MäättäFolkhälsan Research Center, Institute of Genetics, 00250 Helsinki, Finland.
Jelmer LegebekeDepartment of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, 171 777 Stockholm, Sweden.
Riikka E MäkitieFolkhälsan Research Center, Institute of Genetics, 00250 Helsinki, Finland.
Philippe M CampeauMedical Genetics Division, Department of Pediatrics, CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada.ORCID https://orcid.org/0000-0001-9713-7107
Paulien A TerhalDepartment of Genetics, Utrecht University Medical Center, 3508 TC Utrecht, The Netherlands.
Lorenzo D BottoDivision of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT 84112, United States.
Vesa M OlkkonenMinerva Foundation Institute for Medical Research, 00290 Helsinki, Finland.
Outi MäkitieFolkhälsan Research Center, Institute of Genetics, 00250 Helsinki, Finland.ORCID https://orcid.org/0000-0002-4547-001X
Minna PekkinenFolkhälsan Research Center, Institute of Genetics, 00250 Helsinki, Finland.ORCID https://orcid.org/0000-0003-2947-4683

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Heterozygous pathogenic variants in the

Indexed as

calvarial doughnut lesions with bone fragilitylipidomicRNA sequencingsphingomyelin metabolismsphingomyelin synthase 2

Identifiers

PMID40978119
PMCPMC12445838

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.