Evidence map›Paper›PMID 41473314›Full record

ArticlebioRxiv : the preprint server for biology2025

Disruption of the FGFR1-FGF23-Phosphate Axis and Targeted Therapy in a Murine Model of Osteoglophonic Dysplasia.

Giuliana Ascone, Rajdeep Kaur, Arwaa Mehran, Cecilia Rivas, Rebeca Galisteo, Irene Ginty, Shanna Cloud, Arthur MacLarty, Li Li, Gene Elliot and 7 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in bioRxiv : the preprint server for biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

17 authors.

Giuliana AsconeMarseille Medical Genetics (MMG), Aix-Marseille Université (AMU), Marseille, France.
Rajdeep KaurUnit on Skeletal Genomics Unit (SGU), Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, USA.
Arwaa MehranUnit on Skeletal Genomics Unit (SGU), Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, USA.
Cecilia RivasMouse Transgenic and Gene Editing Core, National Human Genome Research Institute (NHGRI), NIH, Bethesda, MD, USA.
Rebeca GalisteoMetabolic Bone Disorders Unit, National Institute of Dental and Craniofacial Research (NIDCR), Bethesda, MD, USA.
Irene GintyOffice of Laboratory Animal Medicine (OLAM), National Human Genome Research Institute (NHGRI), NIH, Bethesda, MD, USA.
Shanna CloudMouse Transgenic and Gene Editing Core, National Human Genome Research Institute (NHGRI), NIH, Bethesda, MD, USA.
Arthur MacLartyOffice of Laboratory Animal Medicine (OLAM), National Human Genome Research Institute (NHGRI), NIH, Bethesda, MD, USA.
Li LiNIDCR Imaging Core, National Institute of Dental and Craniofacial Research (NIDCR), Bethesda, MD, USA.
Gene ElliotMouse Transgenic and Gene Editing Core, National Human Genome Research Institute (NHGRI), NIH, Bethesda, MD, USA.
Mara RiminucciDepartment of Molecular Medicine, Sapienza University of Rome, Viale Regina 324, 00161 Rome, Italy.
Alessandro CorsiDepartment of Molecular Medicine, Sapienza University of Rome, Viale Regina 324, 00161 Rome, Italy.
Dawn E Watkins-ChowSection on Mammalian Development and Evolution, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, USA.
Lisa GarrettMouse Transgenic and Gene Editing Core, National Human Genome Research Institute (NHGRI), NIH, Bethesda, MD, USA.
Iris R HartleyMetabolic Bone Disorders Unit, National Institute of Dental and Craniofacial Research (NIDCR), Bethesda, MD, USA.
Luis Fernandez de CastroMetabolic Bone Disorders Unit, National Institute of Dental and Craniofacial Research (NIDCR), Bethesda, MD, USA.
Carlos R FerreiraUnit on Skeletal Genomics Unit (SGU), Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, USA.ORCID 0000-0002-2697-1046

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Osteoglophonic Dysplasia (OGD) is an autosomal dominant skeletal dysplasia characterized by impaired bone growth resulting in short stature, severe craniofacial abnormalities, and in some patients FGF23-mediated hypophosphatemia. It is caused by gain-of-function variants in FGFR1, particularly in or near the transmembrane domain of the receptor. We used CRISPR in mice to knock-in the FGFR1 p.N330I variant, chosen based on its association with FGF23 excess. Skeletal phenotyping of this

Identifiers

PMID41473314
PMCPMC12747257

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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.