Evidence map›Paper›PMID 35393353›Full record

ArticleLife science alliance2022

Functional and structural deficiencies of Gemin5 variants associated with neurological disorders.

Rosario Francisco-Velilla, Azman Embarc-Buh, Francisco Del Caño-Ochoa, Salvador Abellan, Marçal Vilar, Sara Alvarez, Alberto Fernandez-Jaen, Sukhleen Kour, Deepa S Rajan, Udai Bhan Pandey and 2 more

Open access · goldAbstract read
In one paragraph

Article in Life science alliance, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
2.1field-weighted citation impact, top 12% 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

13 citing papers in PubMed, 15 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Mutations of GEMIN5 are associated with coenzyme QEuropean journal of human genetics : EJHG · 2024
    Article
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  8. Article
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  13. 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

12 authors at 5 institutions in 2 countries.

Rosario Francisco-VelillaCentro de Biología Molecular Severo Ochoa (CBMSO), Consejo Superior de Investigaciones Cientificas - Universidad Autónoma de Madrid (CSIC-UAM), Madrid, Spain.ORCID 0000-0002-4328-8732
Azman Embarc-BuhCentro de Biología Molecular Severo Ochoa (CBMSO), Consejo Superior de Investigaciones Cientificas - Universidad Autónoma de Madrid (CSIC-UAM), Madrid, Spain.ORCID 0000-0002-1980-942X
Francisco Del Caño-OchoaInstituto de Biomedicina de Valencia (IBV-CSIC), Valencia, Spain.ORCID 0000-0003-3093-3103
Salvador AbellanCentro de Biología Molecular Severo Ochoa (CBMSO), Consejo Superior de Investigaciones Cientificas - Universidad Autónoma de Madrid (CSIC-UAM), Madrid, Spain.
Marçal VilarInstituto de Biomedicina de Valencia (IBV-CSIC), Valencia, Spain.ORCID 0000-0002-9376-6544
Sara AlvarezNew Integrated Medical Genetics (NIMGENETICS), Madrid, Spain.
Alberto Fernandez-JaenNeuropediatric Department, Hospital Universitario Quirónsalud, Madrid, Spain.ORCID 0000-0003-3306-9832
Sukhleen KourDepartment of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
Deepa S RajanDepartment of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.ORCID 0000-0001-5699-8541
Udai Bhan PandeyDepartment of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
Santiago Ramón-MaiquesInstituto de Biomedicina de Valencia (IBV-CSIC), Valencia, Spain.ORCID 0000-0001-9674-8088
Encarnacion Martinez-SalasCentro de Biología Molecular Severo Ochoa (CBMSO), Consejo Superior de Investigaciones Cientificas - Universidad Autónoma de Madrid (CSIC-UAM), Madrid, Spain emartinez@cbm.csic.es.ORCID 0000-0002-8432-5587
Consejo Superior de Investigaciones Científicas · ESChildren's Hospital of Pittsburgh · USInstituto de Salud Carlos III · ESHospital Universitario Quirónsalud Madrid · ESInstituto de Biomedicina de Valencia · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Dysfunction of RNA-binding proteins is often linked to a wide range of human disease, particularly with neurological conditions. Gemin5 is a member of the survival of the motor neurons (SMN) complex, a ribosome-binding protein and a translation reprogramming factor. Recently, pathogenic mutations in

Indexed as

Nervous System DiseasesRibosomesRNA-Binding ProteinsHumansRNASMN Complex ProteinsGEMIN5 protein, humanRNARNA-Binding ProteinsSMN Complex Proteins

Identifiers

PMID35393353
PMCPMC8989681
OpenAlexW4223602826

What Socratic 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 Socratic graph.