Evidence map›Paper›PMID 41362843›Full record

ArticleAtherosclerosis plus2025

Characterization of selected LDLR substitutions in patients with familial hypercholesterolemia.

Monika Targońska, Anna Janaszak-Jasiecka, Magdalena Chmara, Monika Żuk, Leszek Kalinowski, Krzysztof Waleron, Jacek Jasiecki, Bartosz Wasąg

Abstract read
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In one paragraph

Article in Atherosclerosis plus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

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

8 authors.

Monika TargońskaDepartment of Biology and Medical Genetics, Medical University of Gdańsk, 80-210, Gdańsk, Poland.
Anna Janaszak-JasieckaDepartment of Medical Laboratory Diagnostics-Fahrenheit Biobank BBMRI.pl, Medical University of Gdańsk, 80-211, Gdańsk, Poland.
Magdalena ChmaraLaboratory of Clinical Genetics, University Clinical Centre, 80-952, Gdańsk, Poland.
Monika ŻukDepartment of Biology and Medical Genetics, Medical University of Gdańsk, 80-210, Gdańsk, Poland.
Leszek KalinowskiDepartment of Medical Laboratory Diagnostics-Fahrenheit Biobank BBMRI.pl, Medical University of Gdańsk, 80-211, Gdańsk, Poland.
Krzysztof WaleronDepartment of Pharmaceutical Microbiology, Faculty of Pharmacy, Medical University of Gdańsk, 80-416, Gdańsk, Poland.
Jacek JasieckiDepartment of Pharmaceutical Microbiology, Faculty of Pharmacy, Medical University of Gdańsk, 80-416, Gdańsk, Poland.
Bartosz WasągDepartment of Biology and Medical Genetics, Medical University of Gdańsk, 80-210, Gdańsk, Poland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and aims: Familial hypercholesterolemia is a genetic disorder caused by pathogenic or likely pathogenic variants in four key genes: Methods: The functional analysis was performed using the HEK293T- Results: The experimental study revealed an impaired activity of the c.662A > G p. (Asp221Gly), c.1775G > A p. (Gly592Glu), and c.2483delA p. (Tyr828Phefs∗101) Conclusions: The results provide functional evidence for the activity of selected

Indexed as

Familial Hypercholesterolemia (FH)HEK293T-ldlrG1LDL Receptor (LDLR)Low-Density Lipoprotein Cholesterol (LDL-C)Low-Density Lipoprotein (LDL)Variants classification

Identifiers

PMID41362843
PMCPMC12681971

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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.