Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Large-Scale Functional Characterization of Low-Density Lipoprotein Receptor Gene Variants Improves Risk Assessment in Cardiovascular Disease

11 Dec 2024

Abstract excerpt

Limited access to functional information of genetic variants reduces the applicability of genetic tools for precision medicine applications in cardiovascular disease. We established an automated analysis platform based on multiplexed high-content imaging and derived in-depth functional data for several hundred LDLR gene variants. Residual low-density lipoprotein receptor activity of genetic variants impacted the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Atherosclerosis and Cardiovascular Diseases
Share to Diabetes, Cardiovascular Risks, and Lipoproteins
Share to Lipoproteins and Cardiovascular Health

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 40131152
DOI: 10.1016/j.jacbts.2024.10.006

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Large-Scale Functional Characterization of Low-Density Lipoprotein Receptor Gene Variants Improves Risk Assessment in Cardiovascular DiseasePMID 40131152Read ↗

Large-scale functional characterization of low-density lipoprotein receptor gene variants improves risk assessment in cardiovascular diseaseSemantic proximity Read ↗

Functional analysis of<i>LDLR</i>variants reveals that the novel p.(Ser610Tyr) variant in the YMDD motif drastically impacts LDL uptakeSemantic proximity Read ↗

Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.Semantic proximity Read ↗

Systematic elucidation of genetic mechanisms underlying cholesterol uptakeSemantic proximity Read ↗

Analysis of Low-Density Lipoprotein Receptor Gene Mutations in A Family with Familial HypercholesterolemiaSemantic proximity Read ↗

Precision Medicine Advancements Using Whole Genome Sequencing, Noninvasive Whole Body Imaging, and Functional DiagnosticsSemantic proximity Read ↗

Multiparametric Platform for Profiling Lipid Trafficking in Human Leukocytes: Application for HypercholesterolemiaSemantic proximity Read ↗

The N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans.Semantic proximity Read ↗

Optimized flow cytometry assay for functional characterization of variants of uncertain significance in familial hypercholesterolemia.Semantic proximity Read ↗

Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.Semantic proximity Read ↗

Systematic elucidation of genetic mechanisms underlying cholesterol uptakeSemantic proximity Read ↗

The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.