ReviewInternational journal of molecular sciences2018
Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.
Review in International journal of molecular sciences, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 54 citations in OpenAlex.
- Toward an Integrated Therapeutic Approach for Familial Hypercholesterolemia.Current medical science · 2026Review
- Functional analysis from ex-vivo characterization of LDLR exon 13-15 duplication associated to familial hypercholesterolemia.Frontiers in endocrinology · 2026Article
- Investigation of the Effects of NoncodingHuman heredity · 2026Article
- Synergistic effects of mutation and glycosylation on disease progression.Frontiers in molecular biosciences · 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
- Pathogenicity of the LDLR c.97C>T (p.Gln33Ter) Mutation in Familial Hypercholesterolemia.Molecular genetics & genomic medicine · 2024Article
- LDLR c.415G > A causes familial hypercholesterolemia by weakening LDLR binding to LDL.Lipids in health and disease · 2024Article
- Soluble LDL-receptor is induced by TNF-α and inhibits hepatocytic clearance of LDL-cholesterol.Journal of molecular medicine (Berlin, Germany) · 2023Article
- Predictive Modeling and Structure Analysis of Genetic Variants in Familial Hypercholesterolemia: Implications for Diagnosis and Protein Interaction Studies.Current atherosclerosis reports · 2023Review
- New Perspectives on Cholesterol and Lipoprotein Metabolism.International journal of molecular sciences · 2023Article
- In vitro assessment of the pathogenicity of the LDLR c.2160delC variant in familial hypercholesterolemia.Lipids in health and disease · 2023Article
- Functional Characterization of p.(Arg160Gln) PCSK9 Variant Accidentally Found in a Hypercholesterolemic Subject.International journal of molecular sciences · 2023Article
- Lipoprotein Assessment in the twenty-first Century.Endocrinology and metabolism clinics of North America · 2022Review
- Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study.European journal of public health · 2022Article
- Article
- Hyperlipidemia patients carrying LDLR splicing mutation c.1187-2A>G respond favorably to rosuvastatin and PCSK9 inhibitor evolocumab.Molecular genetics and genomics : MGG · 2022Article
- Multiparametric platform for profiling lipid trafficking in human leukocytes.Cell reports methods · 2022Article
- A novel low-density lipoprotein receptor variant in a Ukrainian patient: a case report and overview of the disease-causing low-density lipoprotein receptor variants associated to familial hypercholesterolemia.Molecular biology reports · 2022Article
- The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group.Frontiers in genetics · 2022Article
- MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity ofJACC. Basic to translational science · 2021Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by high blood-cholesterol levels mostly caused by mutations in the low-density lipoprotein receptor (LDLr). With a prevalence as high as 1/200 in some populations, genetic screening for pathogenic LDLr mutations is a cost-effective approach in families classified as 'definite' or 'probable' FH and can help to early diagnosis. However, with over 2000 LDLr variants identified, distinguishing pathogenic mutations from benign mutations is a long-standing challenge in the field. In 1998, the World Health Organization (WHO) highlighted the importance of improving the diagnosis and prognosis of FH patients thus, identifying LDLr pathogenic variants is a longstanding challenge to provide an accurate genetic diagnosis and personalized treatments. In recent years, accessible methodologies have been developed to assess LDLr activity in vitro, providing experimental reproducibility between laboratories all over the world that ensures rigorous analysis of all functional studies. In this review we present a broad spectrum of functionally characterized missense LDLr variants identified in patients with FH, which is mandatory for a definite diagnosis of FH.
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