Evidence map›Paper›PMID 39940784›Full record

ArticleInternational journal of molecular sciences2025

The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the

Olga Shchagina, Leisan Gilazova, Alexandra Filatova, Zulfiia Vafina, Aysylu Murtazina, Polina Chigvintceva, Olga Kudryashova, Aleksander Polyakov, Sergey Kutsev, Maria Bulakh and 1 more

Abstract read
In one paragraph

Article in International journal of molecular sciences, 2025. 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. Review
  2. Article
  3. Article
  4. 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.

Olga ShchaginaResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0003-4905-1303
Leisan GilazovaRepublic of Tatarstan Ministry of Healthcare Autonomous Public Healthcare, Institution Republic Clinical Hospital, 420064 Kazan, Russia.ORCID 0000-0003-1716-5963
Alexandra FilatovaResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0002-5979-0727
Zulfiia VafinaRepublic of Tatarstan Ministry of Healthcare Autonomous Public Healthcare, Institution Republic Clinical Hospital, 420064 Kazan, Russia.
Aysylu MurtazinaResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0001-7023-7378
Polina ChigvintcevaRepublic of Tatarstan Ministry of Healthcare Autonomous Public Healthcare, Institution Republic Clinical Hospital, 420064 Kazan, Russia.ORCID 0000-0002-7554-3670
Olga KudryashovaRepublic of Tatarstan Ministry of Healthcare Autonomous Public Healthcare, Institution Republic Clinical Hospital, 420064 Kazan, Russia.
Aleksander PolyakovResearch Centre for Medical Genetics, 115522 Moscow, Russia.
Sergey KutsevResearch Centre for Medical Genetics, 115522 Moscow, Russia.
Maria BulakhResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0002-8674-7230
Mikhail SkoblovResearch Centre for Medical Genetics, 115522 Moscow, Russia.ORCID 0000-0002-7293-3438

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Laminopathies are a broad spectrum of hereditary diseases caused by pathogenic variants of the

Indexed as

IntronsLaminopathiesLamin Type ARNA Splice SitesAdultAlternative SplicingFemaleHumansMaleMiddle AgedMutationPedigreePhenotypeLamin Type ALMNA protein, humanRNA Splice Sitescardiomyopathylaminopathialimb–girdle muscular dystrophylipodystrophyLMNAsplicing

Identifiers

PMID39940784
PMCPMC11818007

What OpenQuestion holds

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Registered trials

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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.