Evidence map›Paper›PMID 34202524›Full record

ArticleInternational journal of molecular sciences2021

The Double Mutation

Roman Myasnikov, Andreas Brodehl, Alexey Meshkov, Olga Kulikova, Anna Kiseleva, Greta Marie Pohl, Evgeniia Sotnikova, Mikhail Divashuk, Marina Klimushina, Anastasia Zharikova and 11 more

Open access · goldAbstract readCase Reports
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 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.7field-weighted citation impact, top 14% 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

8 citing papers in PubMed, 15 citations in OpenAlex.

  1. Article
  2. Chromosomal Location and Identification ofDiagnostics (Basel, Switzerland) · 2025
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  4. Atherosclerosis and Other Related-Arterial Diseases.International journal of molecular sciences · 2023
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  5. Article
  6. Review
  7. NovelPharmacogenomics and personalized medicine · 2023
    Article
  8. 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

21 authors at 5 institutions in 3 countries.

Roman MyasnikovNational Research Center for Therapy and Preventive Medicine, Petroverigskiy Lane 10, 101990 Moscow, Russia.ORCID 0000-0002-9024-5364
Andreas BrodehlErich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.ORCID 0000-0001-9202-2343
Alexey MeshkovNational Research Center for Therapy and Preventive Medicine, Petroverigskiy Lane 10, 101990 Moscow, Russia.ORCID 0000-0001-5989-6233
Olga KulikovaNational Research Center for Therapy and Preventive Medicine, Petroverigskiy Lane 10, 101990 Moscow, Russia.ORCID 0000-0002-3138-054X
Anna KiselevaNational Research Center for Therapy and Preventive Medicine, Petroverigskiy Lane 10, 101990 Moscow, Russia.ORCID 0000-0003-4765-8021
Greta Marie PohlErich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
Evgeniia SotnikovaNational Research Center for Therapy and Preventive Medicine, Petroverigskiy Lane 10, 101990 Moscow, Russia.
Mikhail DivashukNational Research Center for Therapy and Preventive Medicine, Petroverigskiy Lane 10, 101990 Moscow, Russia.ORCID 0000-0001-6221-3659
Marina KlimushinaNational Research Center for Therapy and Preventive Medicine, Petroverigskiy Lane 10, 101990 Moscow, Russia.ORCID 0000-0002-7876-9325
Anastasia ZharikovaNational Research Center for Therapy and Preventive Medicine, Petroverigskiy Lane 10, 101990 Moscow, Russia.
Maria PokrovskayaNational Research Center for Therapy and Preventive Medicine, Petroverigskiy Lane 10, 101990 Moscow, Russia.
Sergey KoretskiyNational Research Center for Therapy and Preventive Medicine, Petroverigskiy Lane 10, 101990 Moscow, Russia.ORCID 0000-0001-6009-5775
Maria KharlapNational Research Center for Therapy and Preventive Medicine, Petroverigskiy Lane 10, 101990 Moscow, Russia.ORCID 0000-0002-6855-4857
Elena MershinaMedical Research and Educational Center, Lomonosov Moscow State University, Lomonosovsky Prospect 27, Building 10, 119991 Moscow, Russia.
Valentin SinitsynMedical Research and Educational Center, Lomonosov Moscow State University, Lomonosovsky Prospect 27, Building 10, 119991 Moscow, Russia.ORCID 0000-0002-5649-2193
Elena BasarginaNational Medical Research Center for Children's Health, Lomonosovsky Prospect 2, Building 1, 119991 Moscow, Russia.
Leila GandaevaNational Medical Research Center for Children's Health, Lomonosovsky Prospect 2, Building 1, 119991 Moscow, Russia.
Vladimir BarskiyNational Medical Research Center for Children's Health, Lomonosovsky Prospect 2, Building 1, 119991 Moscow, Russia.
Sergey BoytsovNational Medical Research Center for Cardiology, 3-ya Cherepkovskaya Street, 15A, 121552 Moscow, Russia.
Hendrik MiltingErich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
Oxana DrapkinaNational Research Center for Therapy and Preventive Medicine, Petroverigskiy Lane 10, 101990 Moscow, Russia.
National Research Center for Preventive Medicine · RUCenter for Children · USHeart and Diabetes Center North Rhine-Westphalia · DELomonosov Moscow State University · RUNational Medical Research Center of Cardiology · RU

Funding

Medical Faculty of the Ruhr-University Bochum FoRUM- F937-18State assignment 21021100127-8
6 · The paper itself

Abstract

Left ventricular non-compaction cardiomyopathy (LVNC) is a rare heart disease, with or without left ventricular dysfunction, which is characterized by a two-layer structure of the myocardium and an increased number of trabeculae. The study of familial forms of LVNC is helpful for risk prediction and genetic counseling of relatives. Here, we present a family consisting of three members with LVNC. Using a next-generation sequencing approach a combination of two (likely) pathogenic nonsense mutations

Indexed as

MutationAdultCardiomyopathiesCells, CulturedDesmoglein 2DNA Mutational AnalysisFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHeart Function TestsHumansMagnetic Resonance ImagingPedigreeSymptom AssessmentT-Box Domain ProteinsVentricular Dysfunction, LeftDesmoglein 2DSG2 protein, humanT-Box Domain ProteinsTBX20 protein, humancardiomyopathycardiovascular geneticsdesmoglein-2desmosomesdilated cardiomyopathyDSG2left ventricular non-compaction cardiomyopathyTBX20

Identifiers

PMID34202524
PMCPMC8268202
OpenAlexW3176165243

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.