Evidence map›Paper›PMID 35011612›Full record

ArticleCells2021

A Rare Mutation in

Alice-Anaïs Varlet, Camille Desgrouas, Cécile Jebane, Nathalie Bonello-Palot, Patrice Bourgeois, Nicolas Levy, Emmanuèle Helfer, Noémie Dubois, René Valero, Catherine Badens and 1 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Cells, 2021. 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
0.2field-weighted citation impact, top 46% 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, 4 citations in OpenAlex.

  1. Review
  2. Article
  3. 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

11 authors at 2 institutions in 1 country.

Alice-Anaïs VarletAix Marseille Univ, INSERM, MMG, 13385 Marseille, France.ORCID 0000-0002-1670-4884
Camille DesgrouasAix Marseille Univ, INSERM, MMG, 13385 Marseille, France.ORCID 0000-0001-9948-687X
Cécile JebaneAix Marseille Univ, CNRS, CINAM, Turing Centre for Living Systems, 13288 Marseille, France.ORCID 0000-0001-5888-1064
Nathalie Bonello-PalotAix Marseille Univ, INSERM, MMG, 13385 Marseille, France.
Patrice BourgeoisAix Marseille Univ, INSERM, MMG, 13385 Marseille, France.
Nicolas LevyAix Marseille Univ, INSERM, MMG, 13385 Marseille, France.
Emmanuèle HelferAix Marseille Univ, CNRS, CINAM, Turing Centre for Living Systems, 13288 Marseille, France.ORCID 0000-0001-8123-0964
Noémie DuboisAPHM, Metabolic Diseases, Endocrinology, Department of Nutrition, 13385 Marseille, France.
René ValeroAPHM, Metabolic Diseases, Endocrinology, Department of Nutrition, 13385 Marseille, France.ORCID 0000-0002-2176-3280
Catherine BadensAix Marseille Univ, INSERM, MMG, 13385 Marseille, France.
Sophie BeliardAPHM, Metabolic Diseases, Endocrinology, Department of Nutrition, 13385 Marseille, France.
Inserm · FRCentre National de la Recherche Scientifique · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Many proteins are causative for inherited partial lipodystrophies, including lamins, the essential constituents of the nuclear envelope scaffold called the lamina. By performing high throughput sequencing on a panel of genes involved in lipodystrophies, we identified a heterozygous mutation in

Indexed as

Genetic Predisposition to DiseaseAdolescentAdultAmino Acid SequenceBase SequenceCell NucleusCellular SenescenceChildDown-RegulationFemaleHumansLamin Type BLipodystrophyMutationYoung AdultLamin Type Bhypertriglyceridemialamin B2lipodystrophyLMNB2nuclear envelopesenescencetype 2 diabetes

Identifiers

PMID35011612
PMCPMC8750194
OpenAlexW4200505485

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.