Evidence map›Paper›PMID 33923806›Full record

ArticleInternational journal of molecular sciences2021

Functional Analysis of the

Igor Bychkov, Artur Galushkin, Alexandra Filatova, Andrey Nekrasov, Marina Kurkina, Galina Baydakova, Alexandra Ilyushkina, Mikhail Skoblov, Ekaterina Zakharova

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. RegulatingMolecular therapy. Nucleic acids · 2024
    Article
  4. 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

9 authors.

Igor BychkovResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0002-6594-6126
Artur GalushkinResearch Centre for Medical Genetics, 115522 Moscow, Russia.
Alexandra FilatovaResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0002-5979-0727
Andrey NekrasovResearch Centre for Medical Genetics, 115522 Moscow, Russia.
Marina KurkinaResearch Centre for Medical Genetics, 115522 Moscow, Russia.
Galina BaydakovaResearch Centre for Medical Genetics, 115522 Moscow, Russia.
Alexandra IlyushkinaResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0001-7080-7844
Mikhail SkoblovResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0002-7293-3438
Ekaterina ZakharovaResearch Centre for Medical Genetics, 115522 Moscow, Russia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

It is estimated that up to one-third of all variants causing inherited diseases affect splicing; however, their deleterious effects and roles in disease pathogenesis are often not fully characterized. Given their prevalence and the development of various antisense-based splice-modulating approaches, pathogenic splicing variants have become an important object of genomic medicine. To improve the accuracy of variant interpretation in public mutation repositories, we applied the minigene splicing assay to study the effects of 24 variants that were predicted to affect normal splicing in the genes associated with propionic acidemia (PA)-

Indexed as

RNA SplicingCarbon-Carbon LigasesCell LineHumansLoss of Function MutationPropionic AcidemiaCarbon-Carbon LigasesPCCB protein, humanfunctional analysisPCCA and PCCBsplicing variantsvariant classification

Identifiers

PMID33923806
PMCPMC8073151

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.