ArticleJournal of medical genetics2017
The UCL low-density lipoprotein receptor gene variant database: pathogenicity update.
Article in Journal of medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 2 of them syntheses that pooled it.
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Who cites it
46 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Statins for children with familial hypercholesterolemia.The Cochrane database of systematic reviews · 2019Pooled it
- Statins for children with familial hypercholesterolemia.The Cochrane database of systematic reviews · 2017Pooled it
- Trial
- Investigation of the Effects of NoncodingHuman heredity · 2026Article
- Positive Predictive Values of Familial Hypercholesterolemia Diagnoses in the Danish National Patient Registry and the Danish Familial Hypercholesterolemia Registry - A Validation Study.Clinical epidemiology · 2026Article
- Article
- Structural dynamics of LDL receptor interactions with E498A and R499G variants of PCSK9.Journal of molecular modeling · 2025Article
- Pathways and Molecular Mechanisms Governing LDL Receptor Regulation.Circulation research · 2025Review
- Familial hypercholesterolemia - Targeted whole gene sequencing as a diagnostic approach.Atherosclerosis plus · 2025Article
- Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study.Lipids in health and disease · 2024Article
- Generation of two familial hypercholesterolemia patient-specific induced pluripotent stem cell lines harboring heterozygous mutations in the LDLR gene.Stem cell research · 2024Article
- Development of DNA-Based Lateral Flow Assay for Detection of LDLR Gene Mutation for Familial Hypercholesterolemia.The Malaysian journal of medical sciences : MJMS · 2024Article
- A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE-1 insertion in LDLR.Molecular genetics & genomic medicine · 2024Article
- Analysis of low-density lipoprotein receptor gene mutations in a family with familial hypercholesterolemia.PloS one · 2024Article
- Prevalent Variants in the LDLR Gene Impair Responsiveness to Rosuvastatin among Family Members of Patients with Premature Myocardial Infarction.Journal of personalized medicine · 2023Article
- Screening and verifying the mutations in the LDLR and APOB genes in a Chinese family with familial hypercholesterolemia.Lipids in health and disease · 2023Article
- Novel Tools for Comprehensive Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants.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
- Role of non-coding variants in cardiovascular disease.Journal of cellular and molecular medicine · 2023Review
- Hypercholesterolemia in the Malaysian Cohort Participants: Genetic and Non-Genetic Risk Factors.Genes · 2023Article
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
backgroundFamilial hypercholesterolaemia (OMIM 143890) is most frequently caused by variations in the low-density lipoprotein receptor (
methodsPubMed searches and alerts were used to identify novel
resultsThe updated database (http://www.lovd.nl/LDLR) now includes 2925 curated variants, representing 1707 independent events. All 129 nonsense variants, 337 small frame-shifting and 117/118 large rearrangements were classified as 4 or 5. Of the 795 missense variants, 115 were in classes 1 and 2, 605 in class 4 and 75 in class 3. 111/181 intronic variants, 4/34 synonymous variants and 14/37 promoter variants were assigned to classes 4 or 5. Overall, 112 (7%) of reported variants were class 3.
conclusionsThis study updates the
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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.