Evidence map›Paper›PMID 41574189›Full record

ArticleFrontiers in physiology2025

Heterozygous

Lysanne Girard, Carol-Ann Fortin, Rosalie Plourde, Véronique Desgagné, Renée Guérin, Caroline Albert, Mathieu Desmeules, Patrice Perron, Luigi Bouchard

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in physiology, 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

9 authors.

Lysanne GirardDepartment of Biochemistry and Functional Genomics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC, Canada.
Carol-Ann FortinCentre de recherche et d'innovation, Centre intégré universitaire de santé et de services sociaux (CIUSSS) du Saguenay-Lac-Saint-Jean, Saguenay, QC, Canada.
Rosalie PlourdeDepartment of Biochemistry and Functional Genomics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC, Canada.
Véronique DesgagnéDepartment of Biochemistry and Functional Genomics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC, Canada.
Renée GuérinDepartment of Biochemistry and Functional Genomics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC, Canada.
Caroline AlbertClinical Biochemistry Service, CHUM (Centre hospitalier de l'Université de Montréal), Montreal, QC, Canada.
Mathieu DesmeulesDivision of Medical Genetics, Department of Pediatry, Faculty of Medicine and Health Sciences, University of Sherbrooke, Sherbrooke, QC, Canada.
Patrice PerronDepartment of Medicine, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC, Canada.
Luigi BouchardDepartment of Biochemistry and Functional Genomics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background/aims: Vitamin D-dependent rickets type 1A is a rare autosomal recessive disorder caused by pathogenic variants in the Methods: Participants from SLSJ were recruited by telephone (n = 36). During an in-person visit, buccal swabs, blood samples, and health and lifestyle information were collected. The Results: Carriers showed significantly higher levels of parathormone, ALP, and BAP compared to non-carriers (p < 0.05). Additionally, 25(OH)D levels were higher in carriers, although the difference did not reach nominal statistical significance (p = 0.056). Calcitriol, ionized calcium, and inorganic phosphorus levels were similar between groups. Conclusion: Heterozygosity for

Indexed as

bone remodelingcalcitriolCYP27B1 genegenetic variantheterozygocityparathormone (PTH)phosphocalcic balancevitamin D-dependent rickets type 1A

Identifiers

PMID41574189
PMCPMC12820427

What OpenQuestion holds

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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.