ReviewBiomolecules2019
Genes Potentially Associated with Familial Hypercholesterolemia.
Review in Biomolecules, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
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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.
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Who cites it
13 citing papers in PubMed, 27 citations in OpenAlex.
- Chemometrics-guided plasma lipidomics insights underlying the decrease of plasma total cholesterol and LDLc in children with hypercholesterolemia following habitual intake of an EVOO-based phytosterols-enriched spreadable cream.Metabolomics : Official journal of the Metabolomic Society · 2025Trial
- Role of Next-Generation Sequencing in Diagnosis of Familial Hypercholesterolemia in Serbia.Diagnostics (Basel, Switzerland) · 2025Article
- Familial hypercholesterolemia - Targeted whole gene sequencing as a diagnostic approach.Atherosclerosis plus · 2025Article
- Role of non-coding variants in cardiovascular disease.Journal of cellular and molecular medicine · 2023Review
- The LDLR c.501C>A is a disease-causing variant in familial hypercholesterolemia.Lipids in health and disease · 2021Article
- Improvement of Definite Diagnosis of Familial Hypercholesterolemia Using an Expanding Genetic Analysis.JACC. Asia · 2021Article
- Homozygous Missense Variation inMolecular syndromology · 2021Article
- A case of autosomal recessive hypercholesterolemia with a novel mutation in theClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2021Article
- Bioactive Lipids in Health and Disease.Biomolecules · 2020Article
- Mice lacking global Stap1 expression do not manifest hypercholesterolemia.BMC medical genetics · 2020Article
- Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolaemia: A Propensity Score Analysis.Life (Basel, Switzerland) · 2020Article
- Genetics of Familial Hypercholesterolemia: New Insights.Frontiers in genetics · 2020Review
- Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry?Indian heart journalReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This review addresses the contribution of some genes to the phenotype of familial hypercholesterolemia. At present, it is known that the pathogenesis of this disease involves not only a pathological variant of low-density lipoprotein receptor and its ligands (apolipoprotein B, proprotein convertase subtilisin/kexin type 9 or low-density lipoprotein receptor adaptor protein 1), but also lipids, including sphingolipids, fatty acids, and sterols. The genetic cause of familial hypercholesterolemia is unknown in 20%-40% of the cases. The genes
Indexed as
Identifiers
What Socratic holds
Registered trials
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.