Evidence map›Paper›PMID 36225206›Full record

ReviewFrontiers in endocrinology2022

The genetic overlap between osteoporosis and craniosynostosis.

Erika Kague, Carolina Medina-Gomez, Simeon A Boyadjiev, Fernando Rivadeneira

Open access · goldAbstract readReview
In one paragraph

Review in Frontiers in endocrinology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed, 1 pooled it
2.1field-weighted citation impact, top 12% of its field
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

10 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.

  1. Pooled it
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  7. Standardization of bone morphometry and mineral density assessments in zebrafish and other small laboratory fishes using X-ray radiography and micro-computed tomography.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024
    Article
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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

4 authors at 3 institutions in 3 countries.

Erika KagueSchool of Physiology, Pharmacology and Neuroscience, Biomedical Sciences, University of Bristol, Bristol, United Kingdom.
Carolina Medina-GomezDepartment of Internal Medicine, Erasmus Medical Center (MC), University Medical Center Rotterdam, Rotterdam, Netherlands.
Simeon A BoyadjievDepartment of Pediatrics, University of California, Davis, Sacramento, CA, United States.
Fernando RivadeneiraDepartment of Oral and Maxillofacial Surgery, Erasmus Medical Center (MC), University Medical Center Rotterdam, Rotterdam, Netherlands.
Erasmus MC · NLUniversity of Bristol · GBUniversity of California, Davis · US

Funding

NONSYNDROMIC CRANIOSYNOSTOSIS: PHENOTYPE/GENOTYPE STUDYR01DE016886 · NIDCR · UNIVERSITY OF CALIFORNIA AT DAVIS · PI BOYADJIEV BOYD, SIMEON A, ROMITTI, PAUL A · 2006 to 2018
$5.5M
Whole genome sequencing analysis of nonsyndromic craniosynostosisR03DE031061 · NIDCR · UNIVERSITY OF CALIFORNIA AT DAVIS · PI BOYADJIEV BOYD, SIMEON A · 2021 to 2022
$317k
NIDCR NIH HHS R01 DE016886NIDCR NIH HHS R03 DE031061
6 · The paper itself

Abstract

Osteoporosis is the most prevalent bone condition in the ageing population. This systemic disease is characterized by microarchitectural deterioration of bone, leading to increased fracture risk. In the past 15 years, genome-wide association studies (GWAS), have pinpointed hundreds of loci associated with bone mineral density (BMD), helping elucidate the underlying molecular mechanisms and genetic architecture of fracture risk. However, the challenge remains in pinpointing causative genes driving GWAS signals as a pivotal step to drawing the translational therapeutic roadmap. Recently, a skull BMD-GWAS uncovered an intriguing intersection with craniosynostosis, a congenital anomaly due to premature suture fusion in the skull. Here, we recapitulate the genetic contribution to both osteoporosis and craniosynostosis, describing the biological underpinnings of this overlap and using zebrafish models to leverage the functional investigation of genes associated with skull development and systemic skeletal homeostasis.

Indexed as

CraniosynostosesOsteoporosisAnimalsGenome-Wide Association StudySkullZebrafishbone mineral densitycraniosynostosisfracturesgenome-wide association studiesosteoporosiszebrafish

Identifiers

PMID36225206
PMCPMC9548872
OpenAlexW4297236787

What OpenQuestion 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 OpenQuestion graph.