Taking One Step Back in Familial Hypercholesterolemia

Evaluation of the role of STAP1 in Familial Hypercholesterolemia

(2019) Magdalena Danyel et al.   Scientific Reports

The COMMD Family Regulates Plasma LDL Levels and Attenuates Atherosclerosis Through Stabilizing the CCC Complex in Endosomal LDLR TraffickingNovelty and Significance

(2018) Alina Fedoseienko et al.   CIRCULATION RESEARCH

The complex molecular genetics of familial hypercholesterolaemia

(2018) Amanda J. Berberich et al.   Nature Reviews Cardiology

High STAP1 expression in DUX4-rearranged cases is not suitable as therapeutic target in pediatric B-cell precursor acute lymphoblastic leukemia

(2018) Elisabeth M. P. Steeghs et al.   Scientific Reports

Clinical utility of the polygenic LDL-C SNP score in familial hypercholesterolemia

(2018) Marta Futema et al.   ATHEROSCLEROSIS

A rare STAP1 mutation incompletely associated with familial hypercholesterolemia

(2018) Francisco Blanco-Vaca et al.   CLINICA CHIMICA ACTA

Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program

(2018) Derek Klarin et al.   NATURE GENETICS

Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome

(2017) Almudena Amor-Salamanca et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Exome-wide association study of plasma lipids in >300,000 individuals

(2017) Dajiang J Liu et al.   NATURE GENETICS

ProteomicsDB

(2017) Tobias Schmidt et al.   NUCLEIC ACIDS RESEARCH

PNPLA5-knockout rats induced by CRISPR/Cas9 exhibit abnormal bleeding and lipid level

(2017) Yang LIU et al.   Journal of Integrative Agriculture

Sex differences in the LDL receptor knockout mouse model of atherosclerosis

(2017) Neel A. Mansukhani et al.   Artery Research

Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained ClinicallyHighlights

(2016) Jian Wang et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Sequencing for LIPA mutations in patients with a clinical diagnosis of familial hypercholesterolemia

(2016) Barbara Sjouke et al.   ATHEROSCLEROSIS

Ectopic miR-125a Expression Induces Long-Term Repopulating Stem Cell Capacity in Mouse and Human Hematopoietic Progenitors

(2016) Edyta E. Wojtowicz et al.   Cell Stem Cell

Translational Targeted Proteomics Profiling of Mitochondrial Energy Metabolic Pathways in Mouse and Human Samples

(2016) Justina C. Wolters et al.   JOURNAL OF PROTEOME RESEARCH

CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL

(2016) Paulina Bartuzi et al.   Nature Communications

High lipoprotein(a) as a possible cause of clinical familial hypercholesterolaemia: a prospective cohort study

(2016) Anne Langsted et al.   Lancet Diabetes & Endocrinology

Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction

(2015) Ingrid Brænne et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Deubiquitylase Inhibition Reveals Liver X Receptor-independent Transcriptional Regulation of the E3 Ubiquitin Ligase IDOL and Lipoprotein Uptake

(2015) Jessica Kristine Nelson et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Tissue-based map of the human proteome

(2015) M. Uhlen et al.   SCIENCE

Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol

(2014) Leslie A. Lange et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Severe heterozygous familial hypercholesterolemia and risk for cardiovascular disease: A study of a cohort of 14,000 mutation carriers

(2014) Joost Besseling et al.   ATHEROSCLEROSIS

Mutations in STAP1 Are Associated With Autosomal Dominant Hypercholesterolemia

(2014) Sigrid W. Fouchier et al.   CIRCULATION RESEARCH

APOE p.Leu167del mutation in familial hypercholesterolemia

(2013) Zuhier Awan et al.   ATHEROSCLEROSIS

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

Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study

(2013) Philippa J Talmud et al.   LANCET

Genome engineering using the CRISPR-Cas9 system

(2013) F Ann Ran et al.   Nature Protocols

Low Prevalence of Mutations in Known Loci for Autosomal Dominant Hypercholesterolemia in a Multiethnic Patient Cohort

(2012) Zahid Ahmad et al.   Circulation-Cardiovascular Genetics

Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with theAPOEp.Leu167del Mutation

(2012) Marie Marduel et al.   HUMAN MUTATION

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

Skyline: an open source document editor for creating and analyzing targeted proteomics experiments

(2010) Brendan MacLean et al.   BIOINFORMATICS

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

(2010) J. Rios et al.   HUMAN MOLECULAR GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Two Years after Molecular Diagnosis of Familial Hypercholesterolemia: Majority on Cholesterol-Lowering Treatment but a Minority Reaches Treatment Goal

(2010) Roeland Huijgen et al.   PLoS One