ReviewInternational journal of molecular sciences2023
Genetic Heterogeneity of Familial Hypercholesterolemia: Repercussions for Molecular Diagnosis.
Review in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 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
16 citing papers in PubMed, 35 citations in OpenAlex.
- Review
- The Role of Next-Generation Sequencing in Cardiovascular Disease: A New Era of Precision Cardiology.Life (Basel, Switzerland) · 2026Review
- Population Admixture andJournal of cardiovascular development and disease · 2026Article
- Opportunities and Challenges in Translating Genomics into Population Health Impact: Lessons from Familial Hypercholesterolemia.Public health genomics · 2026Review
- Lipidomic Signature of Patients with Familial Hypercholesterolemia Carrying Pathogenic Variants Unveils a Cue of Increased Cardiovascular Risk.International journal of molecular sciences · 2025Article
- Hepatic Inactivation of Carnitine Palmitoyltransferase 1a Lowers ApoB-Containing Lipoproteins in Mice.Arteriosclerosis, thrombosis, and vascular biology · 2025Article
- Long noncoding RNAs in familial hypercholesterolemia: biomarkers, therapeutics, and AI in precision medicine.Lipids in health and disease · 2025Review
- 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
- The impact of overweight on lipid phenotype in different forms of dyslipidemia: a retrospective cohort study.Journal of endocrinological investigation · 2024Article
- EarlyZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2024Article
- Article
- Article
- Membrane Transporter of Serotonin and Hypercholesterolemia in Children.International journal of molecular sciences · 2024Article
- Diagnosis of Familial Hypercholesterolemia in Children and Young Adults.International journal of molecular sciences · 2023Article
- Article
- Current trends of clinical trials involving CRISPR/Cas systems.Frontiers in medicine · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetics of Familial Hypercholesterolemia (FH) is ascribable to pathogenic variants in genes encoding proteins leading to an impaired LDL uptake by the LDL receptor (LDLR). Two forms of the disease are possible, heterozygous (HeFH) and homozygous (HoFH), caused by one or two pathogenic variants, respectively, in the three main genes that are responsible for the autosomal dominant disease:
Indexed as
Identifiers
What OpenQuestion 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 OpenQuestion graph.