Evidence map›Paper›PMID 40848713›Full record

ArticleAmerican journal of human genetics2025

Single-cell analysis of human fibrous dysplasia bone reveals a fibrotic transcriptome and GNAS variants in endothelial, perivascular, and stromal cells.

Kelly L Wentworth, Fernando A Fierro, Tania A Moody, Bryan Le, Zachary Michel, Alison Boyce, Michael Collins, Vardit Kram, Luis F de Castro, Eric D Chow and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of human genetics, 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. Comparison of traditional and new treatments for fibrous dysplasia: a systematic review and meta-analysis.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2026
    Review
  2. 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

12 authors.

Kelly L WentworthDivision of Endocrinology and Metabolism, Department of Medicine, University of California, San Francisco, 513 Parnassus Avenue, HSE 901, San Francisco, CA 94143-0794, USA; Endocrine Research Unit, Department of Medicine, San Francisco Veterans Affairs Health Care System, San Francisco, CA 94121, USA. Electronic address: kelly.wentworth@ucsf.edu.
Fernando A FierroStem Cell Program, Department of Cell Biology and Human Anatomy, University of California, Davis, 2921 Stockton Boulevard, Sacramento, CA 95817, USA. Electronic address: ffierro@ucdavis.edu.
Tania A MoodyDivision of Endocrinology and Metabolism, Department of Medicine, University of California, San Francisco, 513 Parnassus Avenue, HSE 901, San Francisco, CA 94143-0794, USA.
Bryan LeStem Cell Program, Department of Cell Biology and Human Anatomy, University of California, Davis, 2921 Stockton Boulevard, Sacramento, CA 95817, USA.
Zachary MichelMetabolic Bone Diseases Unit, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
Alison BoyceMetabolic Bone Diseases Unit, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
Michael CollinsMetabolic Bone Diseases Unit, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
Vardit KramMetabolic Bone Diseases Unit, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
Luis F de CastroMetabolic Bone Diseases Unit, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
Eric D ChowCenter for Advanced Technologies, University of California, San Francisco, San Francisco, CA, USA.
Amir QorbaniBone and Soft Tissue Pathology Department, UCSF Pathology and Lab Medicine, San Francisco, CA, USA.
Edward C HsiaoDivision of Endocrinology and Metabolism, Department of Medicine, University of California, San Francisco, 513 Parnassus Avenue, HSE 901, San Francisco, CA 94143-0794, USA; UCSF Program in Craniofacial Biology, the UCSF Institute for Human Genetics, and the Eli and Edythe Broad Institute for Regeneration Medicine, UCSF, San Francisco, CA 94143, USA.

Funding

Skeletal Biology and Biomechanics (SBB) CoreP30AR075055 · NIAMS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Wenhan Chang · 2019 to 2026
$7.1M
Vision Science Training Program: Cornea to CortexT32EY015387 · NEI · UNIVERSITY OF CALIFORNIA DAVIS · PI MARIE E BURNS · 2003 to 2026
$4.8M
Novel Strategies for Understanding and Treating Fibrous DysplasiaR01AR081336 · NIAMS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI EDWARD C HSIAO, Kelly Lee Wentworth · 2023 to 2026
$2.7M
Dissecting the Cellular and Molecular Mechanisms Contributing to Craniofacial Fibrous DysplasiaK08DE028946 · NIDCR · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI WENTWORTH, KELLY LEE · 2019 to 2023
$860k
NEI NIH HHS T32 EY015387NIAMS NIH HHS P30 AR075055NIAMS NIH HHS R01 AR081336NIDCR NIH HHS K08 DE028946NIDCR NIH HHS L30 DE029063
6 · The paper itself

Abstract

Genetic mosaicism is a leading cause of human disease across the lifespan. Improving the tools to detect somatic mosaicism and applying them to understand the cellular and molecular mechanisms that contribute to disease is of critical importance for improving human health. Fibrous dysplasia (FD) is a prototypical disease of G

Indexed as

ChromograninsEndothelial CellsFibrous Dysplasia of BoneGTP-Binding Protein alpha Subunits, GsSingle-Cell AnalysisStromal CellsTranscriptomeBone and BonesFemaleFibroblastsFibrosisHumansMaleMosaicismChromograninsGNAS protein, humanGTP-Binding Protein alpha Subunits, Gsbone formationfibrous dysplasia/McCune-Albright syndromefibrous dysplasia of the bonegenetic mosaicismGs-GPCR signalingsingle-cell genotypingsingle-cell RNA sequencingskeletal dysplasias

Identifiers

PMID40848713
PMCPMC12461018

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.