Observational studyGenes2021
The
Open access · goldAbstract readObservational Study
In one paragraph
Observational study in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
8.4field-weighted citation impact, top 2% of its field
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.
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.
Who cites it
23 citing papers in PubMed, 56 citations in OpenAlex.
- Genetic Spectrum of Familial Hypercholesterolemia in Russian North-West Registry: Focus on Correlation Between Clinical and Genetic Diagnosis.Journal of cardiovascular development and disease · 2026Article
- Non-viral delivery of genome-editing tools for treatment of genetic disorders.Acta pharmaceutica Sinica. B · 2026Review
- Common Pathophysiological Mechanisms Connecting Dyslipidemia and Hyperuricemia: a Narrative Review.Maedica · 2025Review
- Pathogenic LDLR Variants (c.103 C>T and c.2416dup) in ligand-binding and cytosolic domains in Saudi familial hypercholesterolemia: Molecular characterization and computational insights.Computational and structural biotechnology journal · 2025Article
- Prevalence and penetrance of pathogenic and likely pathogenicFrontiers in genetics · 2025Article
- Improved Genetic Characterization of Hypercholesterolemia in Latvian Patients with Familial Hypercholesterolemia: A Combined Monogenic and Polygenic Approach Using Whole-Genome Sequencing.International journal of molecular sciences · 2024Article
- Spectrum and Prevalence of RareInternational journal of molecular sciences · 2024Article
- NPC1L1 rs217434 A > G as a Novel Single Nucleotide Polymorphism Related to Dyslipidemia in a Korean Population.Biochemical genetics · 2024Article
- Impact of LDLR polymorphisms on lipid levels and atorvastatin's efficacy in a northern Chinese adult Han cohort with dyslipidemia.Lipids in health and disease · 2024Article
- iPSC-Derived Endothelial Cells Reveal LDLR Dysfunction and Dysregulated Gene Expression Profiles in Familial Hypercholesterolemia.International journal of molecular sciences · 2024Article
- Article
- HDL-Based Therapy: Vascular Protection at All Stages.Biomedicines · 2023Review
- Calling and Phasing of Single-Nucleotide and Structural Variants of theInternational journal of molecular sciences · 2023Article
- Protein structural insights into a rare PCSK9 gain-of-function variant (R496W) causing familial hypercholesterolemia in a Saudi family: whole exome sequencing and computational analysis.Frontiers in physiology · 2023Article
- Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing.International journal of molecular sciences · 2022Article
- A Splice Variant of theGenes · 2022Article
- Relationship between Brain Metabolic Disorders and Cognitive Impairment: LDL Receptor Defect.International journal of molecular sciences · 2022Review
- The Prevalence and Genetic Spectrum of Familial Hypercholesterolemia in Qatar Based on Whole Genome Sequencing of 14,000 Subjects.Frontiers in genetics · 2022Article
- Phenotypic vs. genetic cascade screening for familial hypercholesterolemia: A case report.Frontiers in cardiovascular medicine · 2022Article
- Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia).Journal of personalized medicine · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
28 authors at 4 institutions in 1 country.
Alexey MeshkovNational Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.ORCID 0000-0001-5989-6233
Alexandra ErshovaNational Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Anna KiselevaNational Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.ORCID 0000-0003-4765-8021
Evgenia ZotovaCentre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia.
Evgeniia SotnikovaNational Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Anna PetukhovaCentre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia.
Anastasia ZharikovaNational Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Pavel MalyshevNational Medical Research Center for Cardiology, 3-ya Cherepkovskaya Street, 15A, 121552 Moscow, Russia.
Tatyana RozhkovaNational Medical Research Center for Cardiology, 3-ya Cherepkovskaya Street, 15A, 121552 Moscow, Russia.
Anastasia BlokhinaNational Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Alena LimonovaNational Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Vasily RamenskyNational Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Mikhail DivashukNational Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.ORCID 0000-0001-6221-3659
Zukhra KhasanovaNational Medical Research Center for Cardiology, 3-ya Cherepkovskaya Street, 15A, 121552 Moscow, Russia.
Anna BukaevaCentre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia.
Olga KurilovaNational Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Olga SkirkoNational Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Maria PokrovskayaNational Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Valeriya MikovaCentre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia.
Ekaterina SnigirCentre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia.
Alexsandra AkinshinaCentre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia.
Sergey MitrofanovCentre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia.ORCID 0000-0003-0358-0568
Daria KashtanovaCentre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia.
Valentin MakarovCentre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia.
Valeriy KukharchukNational Medical Research Center for Cardiology, 3-ya Cherepkovskaya Street, 15A, 121552 Moscow, Russia.
Sergey BoytsovNational Medical Research Center for Cardiology, 3-ya Cherepkovskaya Street, 15A, 121552 Moscow, Russia.
Sergey YudinCentre for Strategic Planning of FMBA of Russia, Pogodinskaya Street, 10, bld. 1, 119121 Moscow, Russia.
Oxana DrapkinaNational Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.ORCID 0000-0003-0323-2635
National Research Center for Preventive Medicine · RUCenter for Strategic Research · RUNational Medical Research Center of Cardiology · RULomonosov Moscow State University · RU
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hypercholesterolemia (FH) is a common autosomal codominant disorder, characterized by elevated low-density lipoprotein cholesterol levels causing premature atherosclerotic cardiovascular disease. About 2900 variants of
Indexed as
Genetic Predisposition to DiseaseApolipoprotein B-100Cohort StudiesDNA Mutational AnalysisGenetic VariationHumansHyperlipoproteinemia Type IIMutationProprotein Convertase 9Receptors, LDLRussiaWhole Genome SequencingAPOB protein, humanApolipoprotein B-100LDLR protein, humanPCSK9 protein, humanProprotein Convertase 9Receptors, LDLAPOBfamilial hypercholesterolemiaLDLRPCSK9Russianwhole genome sequencing
Identifiers
What OpenQuestion holds
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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.