Evidence map›Paper›PMID 40808990›Full record

ArticleJBMR plus2025

Moderately severe osteogenesis imperfecta-like osteochondrodysplasia associated with heterozygous variants in both

Elena F Evans, Woo Young Chung, Aileen M Barnes, Elena Makareeva, Sara Talvacchio, Ava Movahed Abtahi, Lisa M Jenkins, Sergey Leikin, Shmuel Muallem, Joan C Marini

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. 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

10 authors.

Elena F EvansSection on Heritable Disorders of Bone and Extracellular Matrix, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, United States.ORCID https://orcid.org/0009-0007-5459-8254
Woo Young ChungEpithelial Signaling and Transport Section, National Institute of Dental Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, United States.
Aileen M BarnesSection on Heritable Disorders of Bone and Extracellular Matrix, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, United States.
Elena MakareevaSection on Physical Biochemistry, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, United States.
Sara TalvacchioOffice of the Clinical Director, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, United States.
Ava Movahed AbtahiEpithelial Signaling and Transport Section, National Institute of Dental Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, United States.ORCID https://orcid.org/0000-0002-1017-6128
Lisa M JenkinsMass Spectrometry Section, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, United States.
Sergey LeikinSection on Physical Biochemistry, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, United States.ORCID https://orcid.org/0000-0001-7095-0739
Shmuel MuallemEpithelial Signaling and Transport Section, National Institute of Dental Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, United States.
Joan C MariniSection on Heritable Disorders of Bone and Extracellular Matrix, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, United States.

Funding

Heritable Disorders of Connective TisueZIAHD008830 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI MARINI, JOAN C · 2009 to 2023
$9.2M
Intramural NIH HHS ZIA HD008830
6 · The paper itself

Abstract

Osteogenesis imperfecta (OI) is a genetically heterogeneous connective tissue disorder with major findings of bone fragility and deformity and short stature. Most patients have dominant mutations in

Indexed as

COL1A2osteogenesis imperfectaskeletal dysplasiasplicingTRPV4

Identifiers

PMID40808990
PMCPMC12342794

What Socratic holds

Textmetadata
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.