Evidence map›Paper›PMID 34211432›Full record

ArticleFrontiers in endocrinology2021

Novel Insights Into Monogenic Obesity Syndrome Due to

Ana Drole Torkar, Magdalena Avbelj Stefanija, Sara Bertok, Katarina Trebušak Podkrajšek, Maruša Debeljak, Branislava Stirn Kranjc, Tadej Battelino, Primož Kotnik

Open access · goldAbstract readCase Reports
In one paragraph

Article in Frontiers in endocrinology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.0field-weighted citation impact, top 21% 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

5 citing papers in PubMed, 9 citations in OpenAlex.

  1. Review
  2. Regulation of INPP5E in Ciliogenesis, Development, and Disease.International journal of biological sciences · 2025
    Review
  3. Obesity-Related Ciliopathies: Focus on Advances of Biomarkers.International journal of molecular sciences · 2024
    Review
  4. Review
  5. Article
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

8 authors at 2 institutions in 1 country.

Ana Drole TorkarUniversity Children's Hospital, Department of Endocrinology, Diabetes and Metabolism, Ljubljana University Medical Centre, Ljubljana, Slovenia.
Magdalena Avbelj StefanijaUniversity Children's Hospital, Department of Endocrinology, Diabetes and Metabolism, Ljubljana University Medical Centre, Ljubljana, Slovenia.
Sara BertokUniversity Children's Hospital, Department of Endocrinology, Diabetes and Metabolism, Ljubljana University Medical Centre, Ljubljana, Slovenia.
Katarina Trebušak PodkrajšekUniversity Children's Hospital, Unit of Special Laboratory Diagnostics, Ljubljana University Medical Centre, Ljubljana, Slovenia.
Maruša DebeljakUniversity Children's Hospital, Unit of Special Laboratory Diagnostics, Ljubljana University Medical Centre, Ljubljana, Slovenia.
Branislava Stirn KranjcFaculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Tadej BattelinoUniversity Children's Hospital, Department of Endocrinology, Diabetes and Metabolism, Ljubljana University Medical Centre, Ljubljana, Slovenia.
Primož KotnikUniversity Children's Hospital, Department of Endocrinology, Diabetes and Metabolism, Ljubljana University Medical Centre, Ljubljana, Slovenia.
Ljubljana University Medical Centre · SIUniversity of Ljubljana · SI

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A Caucasian girl with consanguineous parents presented with early severe obesity and retinal dystrophy. A novel, homozygous gene truncating variant (c.1897C>T) in the

Indexed as

Abnormalities, MultipleAdolescentEye DiseasesFemaleHumansIntellectual DisabilityObesityPenile DiseasesPhenotypePhosphoinositide 5-PhosphatasesPhosphoric Monoester HydrolasesPhosphoinositide 5-PhosphatasesPhosphoric Monoester Hydrolasescase reportINPP5E genemonogenic obesityMORMSretinal dystrophy

Identifiers

PMID34211432
PMCPMC8241224
OpenAlexW3166273595

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.