Evidence map›Paper›PMID 37454964›Full record

ArticleBone2023

Identification of potential non-invasive biomarkers in diastrophic dysplasia.

Chiara Paganini, Ricki S Carroll, Chiara Gramegna Tota, Andrea J Schelhaas, Alessandra Leone, Angela L Duker, David A O'Connell, Ryan F Coghlan, Brian Johnstone, Carlos R Ferreira and 9 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Bone, 2023. 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
0.9field-weighted citation impact, top 20% 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

0 citing papers in PubMed, 3 citations in OpenAlex.

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

19 authors at 10 institutions in 4 countries.

Chiara PaganiniDepartment of Molecular Medicine, Unit of Biochemistry, University of Pavia, Pavia, Italy.
Ricki S CarrollNemours Children's Hospital, Wilmington, DE, USA; Thomas Jefferson University, Philadelphia, PA, USA.
Chiara Gramegna TotaDepartment of Molecular Medicine, Unit of Biochemistry, University of Pavia, Pavia, Italy.
Andrea J SchelhaasNemours Children's Hospital, Wilmington, DE, USA.
Alessandra LeoneDepartment of Molecular Medicine, Unit of Biochemistry, University of Pavia, Pavia, Italy; University School for Advanced Studies Pavia, IUSS Pavia, Pavia, Italy.
Angela L DukerNemours Children's Hospital, Wilmington, DE, USA.
David A O'ConnellThomas Jefferson University, Philadelphia, PA, USA.
Ryan F CoghlanShriners Hospitals for Children, Portland, OR, USA.
Brian JohnstoneShriners Hospitals for Children, Portland, OR, USA; Oregon Health and Science University, Portland, OR, USA.
Carlos R FerreiraNational Human Genome Research Institute, NIH, Bethesda, MD, USA.
Sabrina PeressiniLaboratory of Clinical Chemistry, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Riccardo AlbertiniLaboratory of Clinical Chemistry, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Antonella ForlinoDepartment of Molecular Medicine, Unit of Biochemistry, University of Pavia, Pavia, Italy.
Luisa BonaféDivision of Genetic Medicine, Centre Hospitalier Universitaire Vaudois, University of Lausanne, Switzerland.
Ana Belinda Campos-XavierDivision of Genetic Medicine, Centre Hospitalier Universitaire Vaudois, University of Lausanne, Switzerland.
Andrea Superti-FurgaDivision of Genetic Medicine, Centre Hospitalier Universitaire Vaudois, University of Lausanne, Switzerland.
Andreas ZanklUniversity of Sydney, The Children's Hospital at Westmead and Garvan Institute for Medical Research, Sydney, Australia.
Antonio RossiDepartment of Molecular Medicine, Unit of Biochemistry, University of Pavia, Pavia, Italy. Electronic address: antrossi@unipv.it.
Michael B BoberNemours Children's Hospital, Wilmington, DE, USA; Thomas Jefferson University, Philadelphia, PA, USA.
University of Pavia · ITThomas Jefferson University · USPoliclinico San Matteo Fondazione · ITUniversity of Lausanne · CHChildren's Hospital at Westmead · AUIstituto Universitario di Studi Superiori di Pavia · ITNational Human Genome Research Institute · USOregon Health & Science University · USShriners Hospitals for Children - Portland · USUniversity Hospital of Lausanne · CH

Funding

Skeletal GenomicsZIAHG200407 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI FERREIRA, CARLOS · 2020 to 2024
$3.7M
Intramural NIH HHS ZIA HG200407
6 · The paper itself

Abstract

Diastrophic dysplasia (DTD) is a recessive chondrodysplasia caused by pathogenic variants in the SLC26A2 gene encoding for a cell membrane sulfate/chloride antiporter crucial for sulfate uptake and glycosaminoglycan (GAG) sulfation. Research on a DTD animal model has suggested possible pharmacological treatment approaches. In view of future clinical trials, the identification of non-invasive biomarkers is crucial to assess the efficacy of treatments. Urinary GAG composition has been analyzed in several metabolic disorders including mucopolysaccharidoses. Moreover, the N-terminal fragment of collagen X, known as collagen X marker (CXM), is considered a real-time marker of endochondral ossification and growth velocity and was studied in individuals with achondroplasia and osteogenesis imperfecta. In this work, urinary GAG sulfation and blood CXM levels were investigated as potential biomarkers for individuals affected by DTD. Chondroitin sulfate disaccharide analysis was performed on GAGs isolated from urine by HPLC after GAG digestion with chondroitinase ABC and ACII, while CXM was assessed in dried blood spots. Results from DTD patients were compared with an age-matched control population. Undersulfation of urinary GAGs was observed in DTD patients with some relationship to the clinical severity and underlying SLC26A2 variants. Lower than normal CXM levels were observed in most patients, even if the marker did not show a clear pattern in our small patient cohort because CXM values are highly dependent on age, gender and growth velocity. In summary, both non-invasive biomarkers are promising assays targeting various aspects of the disorder including overall metabolism of sulfated GAGs and endochondral ossification.

Indexed as

AchondroplasiaAnion Transport ProteinsAnimalsBiomarkersCollagenDwarfismGlycosaminoglycansSulfatesSulfate TransportersAnion Transport ProteinsBiomarkersCollagenGlycosaminoglycansSulfatesSulfate TransportersBiomarkerCollagen XDiastrophic dysplasiaGlycosaminoglycanSulfationUrine

Identifiers

PMID37454964
PMCPMC11638977
OpenAlexW4384461186

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.