Article

Large-scale functional characterization of low-density lipoprotein receptor gene variants improves risk assessment in cardiovascular disease

2023-12-27

Abstract excerpt

<h4>Aims</h4> Lack of functional information for low-density lipoprotein (LDL) receptor (LDLR) mutations limits the use of genetics for early diagnosis, risk assessment and clinical decision making in familial hypercholesterolemia (FH). The goal of this study was an in-depth and large-scale functional characterization of LDLR variants to overcome this problem. <h4>Methods</h4> Open-source robotic tools were integr...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 04ba232d-a464-5459-9d3f-6546b383b7a7
DOI: 10.1101/2023.12.27.23299827

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Large-scale functional characterization of low-density lipoprotein receptor gene variants improves risk assessment in cardiovascular diseaseDOI 10.1101/2023.12.27.23299827Read

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

The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for <i>LDLR</i> variant classificationSemantic proximity Read

The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.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

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 publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis.Semantic 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

Genome-first evaluation with exome sequence and clinical data uncovers underdiagnosed genetic disorders in a large healthcare system.Semantic proximity Read

Next-generation sequencing to confirm clinical familial hypercholesterolemiaSemantic proximity Read

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