Evidence map›Paper›PMID 42645855›Full record

ArticleJournal of cardiovascular development and disease2026

Genetic Spectrum of Familial Hypercholesterolemia in Russian North-West Registry: Focus on Correlation Between Clinical and Genetic Diagnosis.

Maria I Krivosheina, Viktoria V Bakaleiko, Olga V Reutova, Polina S Sokolnikova, Anna A Kostareva, Asiiat S Alieva

Abstract read
In one paragraph

Article in Journal of cardiovascular development and disease, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

6 authors.

Maria I KrivosheinaInstitute of Molecular Biology and Genetics, Almazov National Medical Research Centre, 2 Akkuratova, Saint-Petersburg 197341, Russia.ORCID 0009-0005-8107-7572
Viktoria V BakaleikoDepartment of Faculty Therapy, Almazov National Medical Research Centre, Saint-Petersburg 197341, Russia.ORCID 0000-0002-4892-5497
Olga V ReutovaInstitute of Molecular Biology and Genetics, Almazov National Medical Research Centre, 2 Akkuratova, Saint-Petersburg 197341, Russia.
Polina S SokolnikovaInstitute of Molecular Biology and Genetics, Almazov National Medical Research Centre, 2 Akkuratova, Saint-Petersburg 197341, Russia.
Anna A KostarevaInstitute of Molecular Biology and Genetics, Almazov National Medical Research Centre, 2 Akkuratova, Saint-Petersburg 197341, Russia.ORCID 0000-0002-9349-6257
Asiiat S AlievaDepartment of Faculty Therapy, Almazov National Medical Research Centre, Saint-Petersburg 197341, Russia.

Funding

The Ministry of Education and Science of the Russian Federation 075-15-2022-301
6 · The paper itself

Abstract

Genetic analysis of patients with lipid metabolism disorders is becoming increasingly prevalent in clinical practice. In particular, researchers are directing considerable attention toward studying familial hypercholesterolemia (FH). Despite its high population frequency (heterozygous FH occurs in approximately 1 in 250-300 individuals, with even higher prevalence reported in some regions of the world), the heterogeneity of this condition presents major obstacles to its diagnosis. Owing to the advancement of molecular methods and laboratory technologies, it has become possible to establish the genetic basis of metabolic disorders. In the present study, using next-generation sequencing (NGS), a cohort of 261 patients with a confirmed clinical diagnosis of familial hypercholesterolemia was investigated. Among the 82 variants identified in FH-associated genes (

Indexed as

familial hypercholesterolemiaLDL-CLDLRNGS

Identifiers

PMID42645855
PMCPMC13513221

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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.