Evidence mapPaperPMID 34834584Full record

ArticleJournal of personalized medicine2021

Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia).

Elena Shakhtshneider, Dinara Ivanoshchuk, Olga Timoshchenko, Pavel Orlov, Sergey Semaev, Emil Valeev, Andrew Goonko, Nataliya Ladygina, Mikhail Voevoda

Open access · goldAbstract read
In one paragraph

Article in Journal of personalized medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.7field-weighted citation impact, top 15% 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

5 citing papers in PubMed, 12 citations in OpenAlex.

  1. Article
  2. Diagnosis of Familial Hypercholesterolemia in Children and Young Adults.International journal of molecular sciences · 2023
    Article
  3. Calling and Phasing of Single-Nucleotide and Structural Variants of theInternational journal of molecular sciences · 2023
    Article
  4. Article
  5. 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

9 authors at 3 institutions in 1 country.

Elena ShakhtshneiderInstitute of Cytology and Genetics (ICG), Siberian Branch of Russian Academy of Sciences (SB RAS), 10 Prospekt Ak. Lavrentyeva, 630090 Novosibirsk, Russia.ORCID 0000-0001-6108-1025
Dinara IvanoshchukInstitute of Cytology and Genetics (ICG), Siberian Branch of Russian Academy of Sciences (SB RAS), 10 Prospekt Ak. Lavrentyeva, 630090 Novosibirsk, Russia.ORCID 0000-0002-0403-545X
Olga TimoshchenkoInstitute of Cytology and Genetics (ICG), Siberian Branch of Russian Academy of Sciences (SB RAS), 10 Prospekt Ak. Lavrentyeva, 630090 Novosibirsk, Russia.
Pavel OrlovInstitute of Cytology and Genetics (ICG), Siberian Branch of Russian Academy of Sciences (SB RAS), 10 Prospekt Ak. Lavrentyeva, 630090 Novosibirsk, Russia.
Sergey SemaevInstitute of Cytology and Genetics (ICG), Siberian Branch of Russian Academy of Sciences (SB RAS), 10 Prospekt Ak. Lavrentyeva, 630090 Novosibirsk, Russia.ORCID 0000-0003-3999-8501
Emil ValeevInstitute of Cytology and Genetics (ICG), Siberian Branch of Russian Academy of Sciences (SB RAS), 10 Prospekt Ak. Lavrentyeva, 630090 Novosibirsk, Russia.
Andrew GoonkoDepartment of Automation, Novosibirsk State Technical University, 20 Prospekt K. Marksa, 630073 Novosibirsk, Russia.ORCID 0000-0002-7766-5938
Nataliya LadyginaDepartment of Automation, Novosibirsk State Technical University, 20 Prospekt K. Marksa, 630073 Novosibirsk, Russia.
Mikhail VoevodaInstitute of Cytology and Genetics (ICG), Siberian Branch of Russian Academy of Sciences (SB RAS), 10 Prospekt Ak. Lavrentyeva, 630090 Novosibirsk, Russia.ORCID 0000-0001-9425-413X
Research Institute of Therapy and Preventive Medicine · RUInstitute of Cytology and Genetics · RUNovosibirsk State Technical University · RU

Funding

This study was conducted within the framework of the publicly funded topic in state assignment No. AAAA-A19-119100990053-4 and bioinformatic analyses are financially supported as Russian Foundation for Basic Research project No. 19-015-00458. No. AAAA-A19-119100990053-4; No. 19-015-00458
6 · The paper itself

Abstract

The aim of this work was to identify genetic variants potentially involved in familial hypercholesterolemia in 43 genes associated with lipid metabolism disorders. Targeted high-throughput sequencing of lipid metabolism genes was performed (80 subjects with a familial-hypercholesterolemia phenotype). For patients without functionally significant substitutions in the above genes, multiplex ligation-dependent probe amplification was conducted to determine bigger mutations (deletions and/or duplications) in the

Indexed as

ABCG5APOBAPOC3familial hypercholesterolemiaLDLRLPLmultiplex ligation-dependent probe amplificationrare variantsSREBF1targeted sequencing technologies

Identifiers

PMID34834584
PMCPMC8624238
OpenAlexW3214851628

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.