Evidence map›Paper›PMID 39684770›Full record

ArticleInternational journal of molecular sciences2024

Novel Mutation Lys30Glu in the

Elena V Zaklyazminskaya, Victoria V Nefedova, Natalia A Koubassova, Natalia P Kotlukova, Galina V Kopylova, Anastasia M Kochurova, Daniil V Shchepkin, Natalia S Ryabkova, Ivan A Katrukha, Sergey Y Kleymenov and 4 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
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 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

14 authors.

Elena V ZaklyazminskayaPetrovsky National Research Centre of Surgery, Moscow 119991, Russia.ORCID 0000-0002-6244-9546
Victoria V NefedovaResearch Center of Biotechnology, A.N. Bach Institute of Biochemistry, Russian Academy of Sciences, Moscow 119071, Russia.
Natalia A KoubassovaInstitute of Mechanics, Lomonosov Moscow State University, Moscow 119192, Russia.ORCID 0000-0002-0238-4920
Natalia P KotlukovaPediatrics Faculty of Medicine, Pirogov Russian National Research Medical University, Moscow 117997, Russia.
Galina V KopylovaInstitute of Immunology and Physiology, Ural Branch of the Russian Academy of Sciences, Yekaterinburg 620049, Russia.ORCID 0000-0003-2976-2108
Anastasia M KochurovaInstitute of Immunology and Physiology, Ural Branch of the Russian Academy of Sciences, Yekaterinburg 620049, Russia.ORCID 0000-0002-5583-5342
Daniil V ShchepkinInstitute of Immunology and Physiology, Ural Branch of the Russian Academy of Sciences, Yekaterinburg 620049, Russia.ORCID 0000-0001-6660-4673
Natalia S RyabkovaDepartment of Biochemistry, Faculty of Biology, Lomonosov Moscow State University, Moscow 119234, Russia.
Ivan A KatrukhaDepartment of Biochemistry, Faculty of Biology, Lomonosov Moscow State University, Moscow 119234, Russia.
Sergey Y KleymenovResearch Center of Biotechnology, A.N. Bach Institute of Biochemistry, Russian Academy of Sciences, Moscow 119071, Russia.ORCID 0000-0001-5085-0327
Sergey Y BershitskyInstitute of Immunology and Physiology, Ural Branch of the Russian Academy of Sciences, Yekaterinburg 620049, Russia.ORCID 0000-0001-5342-1739
Alexander M MatyushenkoResearch Center of Biotechnology, A.N. Bach Institute of Biochemistry, Russian Academy of Sciences, Moscow 119071, Russia.
Andrey K TsaturyanDepartment of Physiology and Pharmacology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.ORCID 0000-0003-4265-1525
Dmitrii I LevitskyResearch Center of Biotechnology, A.N. Bach Institute of Biochemistry, Russian Academy of Sciences, Moscow 119071, Russia.ORCID 0000-0002-7755-9895

Funding

Russian Science Foundation 22-14-00059
6 · The paper itself

Abstract

Pediatric dilated cardiomyopathy (DCM) is a rare heart muscle disorder leading to the enlargement of all chambers and systolic dysfunction. We identified a novel de novo variant, c.88A>G (p.Lys30Glu, K30E), in the

Indexed as

Cardiomyopathy, DilatedTropomyosinActinsAnimalsChild, PreschoolFemaleHumansMolecular Dynamics SimulationMutationActinsTPM1 protein, humanTropomyosinactin–myosin interactiondilated cardiomyopathyin vitro motility assayleft ventricular non-compactionmolecular dynamicstropomyosin

Identifiers

PMID39684770
PMCPMC11641563

What OpenQuestion holds

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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.