Evidence map›Paper›PMID 37305034›Full record

ArticleFrontiers in endocrinology2023

Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel

Pei Jin Lim, Giulio Marcionelli, Pakeerathan Srikanthan, Timothée Ndarugendamwo, Jason Pinner, Marianne Rohrbach, Cecilia Giunta

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

Article in Frontiers in endocrinology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.9field-weighted citation impact, top 13% 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

3 citing papers in PubMed, 6 citations in OpenAlex.

  1. Review
  2. Article
  3. Update on the Genetics of Osteogenesis Imperfecta.Calcified tissue international · 2024
    Review
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

7 authors at 3 institutions in 2 countries.

Pei Jin LimConnective Tissue Unit, Division of Metabolism and Children's Research Center, University Children's Hospital Zurich and University of Zurich, Zurich, Switzerland.
Giulio MarcionelliConnective Tissue Unit, Division of Metabolism and Children's Research Center, University Children's Hospital Zurich and University of Zurich, Zurich, Switzerland.
Pakeerathan SrikanthanDepartment of Clinical Chemistry and Biochemistry, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
Timothée NdarugendamwoConnective Tissue Unit, Division of Metabolism and Children's Research Center, University Children's Hospital Zurich and University of Zurich, Zurich, Switzerland.
Jason PinnerCentre for Clinical Genetics, Sydney Children's Hospital, Sydney, Australia.
Marianne RohrbachConnective Tissue Unit, Division of Metabolism and Children's Research Center, University Children's Hospital Zurich and University of Zurich, Zurich, Switzerland.
Cecilia GiuntaConnective Tissue Unit, Division of Metabolism and Children's Research Center, University Children's Hospital Zurich and University of Zurich, Zurich, Switzerland.
University of Zurich · CHUniversity Children's Hospital Zurich · CHSydney Children's Hospital · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Osteogenesis imperfecta (OI) is a heritable and chronically debilitating skeletal dysplasia. Patients with OI typically present with reduced bone mass, tendency for recurrent fractures, short stature and bowing deformities of the long bones. Mutations causative of OI have been identified in over 20 genes involved in collagen folding, posttranslational modification and processing, and in bone mineralization and osteoblast development. In 2016, we described the first X-linked recessive form of OI caused by

Indexed as

Osteogenesis ImperfectaAbnormalities, MultipleAlopeciaCollagenDarier DiseaseEyebrowsFemaleGenetic Diseases, X-LinkedHumansIchthyosisLipid MetabolismMaleMetalloendopeptidasesPregnancySkin Diseases, GeneticVirulenceCollagenMBTPS2 protein, humanMetalloendopeptidasesextracellular matrix (ECM)fatty acid metabolismMBTPS2osteogenesis imperfecta (OI)site-2 proteaseX-linkedX-linked osteogenesis imperfecta

Identifiers

PMID37305034
PMCPMC10248412
OpenAlexW4378232410

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.