Evidence map›Paper›PMID 39125885›Full record

ArticleInternational journal of molecular sciences2024

Identification of Variants of Uncertain Significance in the Genes Associated with Thoracic Aortic Disease in Russian Patients with Nonsyndromic Sporadic Subtypes of the Disorder.

Irina A Goncharova, Sofia A Shipulina, Aleksei A Sleptcov, Aleksei A Zarubin, Nail R Valiakhmetov, Dmitry S Panfilov, Evgeniya V Lelik, Viktor V Saushkin, Boris N Kozlov, Ludmila P Nazarenko and 1 more

Abstract read
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In one paragraph

Article in International journal of molecular sciences, 2024. 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
–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

3 citing papers in PubMed.

  1. Article
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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.

Irina A GoncharovaResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences, 10 Ushaika Str., Tomsk 634050, Russia.
Sofia A ShipulinaResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences, 10 Ushaika Str., Tomsk 634050, Russia.ORCID 0000-0002-0037-2205
Aleksei A SleptcovResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences, 10 Ushaika Str., Tomsk 634050, Russia.ORCID 0000-0003-3226-1750
Aleksei A ZarubinResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences, 10 Ushaika Str., Tomsk 634050, Russia.
Nail R ValiakhmetovResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences, 10 Ushaika Str., Tomsk 634050, Russia.ORCID 0000-0001-7969-7020
Dmitry S PanfilovCardiology Research Institute, Tomsk National Research Medical Center, Russian Academy of Sciences, 111a Kievskaya Str., Tomsk 634012, Russia.ORCID 0000-0003-2201-350X
Evgeniya V LelikCardiology Research Institute, Tomsk National Research Medical Center, Russian Academy of Sciences, 111a Kievskaya Str., Tomsk 634012, Russia.ORCID 0000-0002-7553-001X
Viktor V SaushkinCardiology Research Institute, Tomsk National Research Medical Center, Russian Academy of Sciences, 111a Kievskaya Str., Tomsk 634012, Russia.
Boris N KozlovCardiology Research Institute, Tomsk National Research Medical Center, Russian Academy of Sciences, 111a Kievskaya Str., Tomsk 634012, Russia.ORCID 0000-0002-0217-7737
Ludmila P NazarenkoResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences, 10 Ushaika Str., Tomsk 634050, Russia.
Maria S NazarenkoResearch Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences, 10 Ushaika Str., Tomsk 634050, Russia.ORCID 0000-0002-0673-4094

Funding

Russian Science Foundation 22-25-00701
6 · The paper itself

Abstract

Nonsyndromic sporadic thoracic aortic aneurysm (nssTAA) is characterized by diverse genetic variants that may vary in different populations. Our aim was to identify clinically relevant variants in genes implicated in hereditary aneurysms in Russian patients with nssTAA. Forty-one patients with nssTAA without dissection were analyzed. Using massive parallel sequencing, we searched for variants in exons of 53 known disease-causing genes. Patients were found to have no (likely) pathogenic variants in the genes of hereditary TAA. Six variants of uncertain significance (VUSs) were identified in four (9.8%) patients. Three VUSs [

Indexed as

Aortic Aneurysm, ThoracicGenetic Predisposition to DiseaseAdipokinesAdultAgedCardiac MyosinsCollagen Type IIIFemaleFibrillin-1Genetic VariationHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedMutationMyosin Heavy ChainsAdipokinesCardiac MyosinsCOL3A1 protein, humanCollagen Type IIIFBN1 protein, humanFibrillin-1MYH11 protein, humanMyosin Heavy Chainssporadic thoracic aortic aneurysmthoracic aortic disease genesvariants of uncertain significance

Identifiers

PMID39125885
PMCPMC11312146

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