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

Site-specificO-glycosylation of members of the low-density lipoprotein receptor superfamily enhances ligand interactions

(2018) Shengjun Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia

(2017) Maria Donata Di Taranto et al.   Scientific Reports

Functional analysis of the p.(Leu15Pro) and p.(Gly20Arg) sequence changes in the signal sequence of LDL receptor

(2016) Jana Pavloušková et al.   ATHEROSCLEROSIS

The p.Leu167del Mutation inAPOEGene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes

(2016) Ana Cenarro et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

US physician practices for diagnosing familial hypercholesterolemia: data from the CASCADE-FH registry

(2016) Zahid S. Ahmad et al.   Journal of Clinical Lipidology

The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia

(2016) Long Jiang et al.   Scientific Reports

Structural changes induced by acidic pH in human apolipoprotein B-100

(2016) José A. Fernández-Higuero et al.   Scientific Reports

Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats

(2015) A. Etxebarria et al.   ATHEROSCLEROSIS

The importance of an integrated analysis of clinical, molecular and functional data for the genetic diagnosis of familial hypercholesterolemia

(2015) Asier Benito-Vicente et al.   GENETICS IN MEDICINE

Mutation p.L799R in the LDLR, which affects the transmembrane domain of the LDLR, prevents membrane insertion and causes secretion of the mutant LDLR

(2015) Thea Bismo Strøm et al.   HUMAN MOLECULAR GENETICS

Characterization of the First PCSK9 Gain of Function Homozygote

(2015) Ana Catarina Alves et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

MicroRNA-148a regulates LDL receptor and ABCA1 expression to control circulating lipoprotein levels

(2015) Leigh Goedeke et al.   NATURE MEDICINE

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity

(2015) J. A. Fernández-Higuero et al.   Scientific Reports

Systematic Cell-Based Phenotyping of Missense Alleles Empowers Rare Variant Association Studies: A Case for LDLR and Myocardial Infarction

(2015) Aenne S. Thormaehlen et al.   PLoS Genetics

The genetic architecture of the familial hyperlipidaemia syndromes

(2014) Philippa J. Talmud et al.   CURRENT OPINION IN LIPIDOLOGY

Functional Characterization and Classification of Frequent Low-Density Lipoprotein Receptor Variants

(2014) Aitor Etxebarria et al.   HUMAN MUTATION

Whole exome sequencing of familial hypercholesterolaemia patients negative forLDLR/APOB/PCSK9mutations

(2014) Marta Futema et al.   JOURNAL OF MEDICAL GENETICS

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Functional Characterization of Two Low-Density Lipoprotein Receptor Gene Mutations in Two Chinese Patients with Familial Hypercholesterolemia

(2014) Haihong Wang et al.   PLoS One

Advantages and Versatility of Fluorescence-Based Methodology to Characterize the Functionality of LDLR and Class Mutation Assignment

(2014) Aitor Etxebarria et al.   PLoS One

Trends in structural coverage of the protein universe and the impact of the Protein Structure Initiative

(2014) K. Khafizov et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society

(2013) B. G. Nordestgaard et al.   EUROPEAN HEART JOURNAL

The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia

(2013) Jana Vandrovcova et al.   GENETICS IN MEDICINE

In vitro functional characterization of missense mutations in the LDLR gene

(2012) S. Silva et al.   ATHEROSCLEROSIS

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The cytoplasmic domain is not involved in directing Class 5 mutant LDL receptors to lysosomal degradation

(2011) Thea Bismo Strøm et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Role of an intramolecular contact on lipoprotein uptake by the LDL receptor

(2011) Zhenze Zhao et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Mechanistic implications for LDL receptor degradation from the PCSK9/LDLR structure at neutral pH

(2011) Paola Lo Surdo et al.   EMBO REPORTS

Functional characterization of splicing and ligand-binding domain variants in the LDL receptor

(2011) Aitor Etxebarria et al.   HUMAN MUTATION

Familial Hypercholesterolemias: Prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia

(2011) Paul N. Hopkins et al.   Journal of Clinical Lipidology

An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations

(2011) Maria Romano et al.   JOURNAL OF LIPID RESEARCH

A ‘de novo’ point mutation of the low-density lipoprotein receptor gene in an Italian subject with primary hypercholesterolemia

(2010) S. Cassanelli et al.   CLINICAL GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy

(2009) Maria Romano et al.   ATHEROSCLEROSIS

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations

(2009) M Bourbon et al.   JOURNAL OF MEDICAL GENETICS

Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses

(2009) Øystein L. Holla et al.   MOLECULAR GENETICS AND METABOLISM

Nature of the protein universe

(2009) M. Levitt   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Update of Japanese common LDLR gene mutations and their phenotypes: Mild type mutation L547V might predominate in the Japanese population

(2008) Yasuko Miyake et al.   ATHEROSCLEROSIS

A novel method for determining functional LDL receptor activity in familial hypercholesterolemia: Application of the CD3/CD28 assay in lymphocytes

(2008) Hayato Tada et al.   CLINICA CHIMICA ACTA