Missense variants in SORT1 are associated with LDL-C in an Amish population

Genetic associations of protein-coding variants in human disease

(2022) Benjamin B. Sun et al.   NATURE

New insights into the genetic etiology of Alzheimer’s disease and related dementias

(2022) Céline Bellenguez et al.   NATURE GENETICS

Search and sequence analysis tools services from EMBL-EBI in 2022

(2022) Fábio Madeira et al.   NUCLEIC ACIDS RESEARCH

Sorting through the extensive and confusing roles of sortilin in metabolic disease

(2022) Kelly A. Mitok et al.   JOURNAL OF LIPID RESEARCH

Beyond association: successes and challenges in linking non-coding genetic variation to functional consequences that modulate Alzheimer’s disease risk

(2021) Gloriia Novikova et al.   Molecular Neurodegeneration

Rare variant contribution to human disease in 281,104 UK Biobank exomes

(2021) Quanli Wang et al.   NATURE

The power of genetic diversity in genome-wide association studies of lipids

(2021) Sarah E. Graham et al.   NATURE

Exome sequencing and analysis of 454,787 UK Biobank participants

(2021) Joshua D. Backman et al.   NATURE

Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen

(2021) May E. Montasser et al.   SCIENCE

From GWAS to Function: Using Functional Genomics to Identify the Mechanisms Underlying Complex Diseases

(2020) Eddie Cano-Gamez et al.   Frontiers in Genetics

Prevalence, control, and treatment of diabetes, hypertension, and high cholesterol in the Amish

(2020) Shisi He et al.   BMJ Open Diabetes Research & Care

Clustal Omega for making accurate alignments of many protein sequences

(2017) Fabian Sievers et al.   PROTEIN SCIENCE

Low pH-induced conformational change and dimerization of sortilin triggers endocytosed ligand release

(2017) Nadia Leloup et al.   Nature Communications

Effect of SORT1, APOB and APOE polymorphisms on LDL-C and coronary heart disease in Pakistani subjects and their comparison with Northwick Park Heart Study II

(2016) Saleem Ullah Shahid et al.   Lipids in Health and Disease

Atherogenic Lipoprotein Subfractions Determined by Ion Mobility and First Cardiovascular Events After Random Allocation to High-Intensity Statin or PlaceboCLINICAL PERSPECTIVE

(2015) Samia Mora et al.   CIRCULATION

A Comparison of the Mouse and Human Lipoproteome: Suitability of the Mouse Model for Studies of Human Lipoproteins

(2015) Scott M. Gordon et al.   JOURNAL OF PROTEOME RESEARCH

CELSR2–PSRC1–SORT1 gene expression and association with coronary artery disease and plasma lipid levels in an Asian Indian cohort

(2014) Prathima Arvind et al.   Journal of Cardiology

Improvement of Prediction Ability for Genomic Selection of Dairy Cattle by Including Dominance Effects

(2014) Chuanyu Sun et al.   PLoS One

Revisiting the structure of the Vps10 domain of human sortilin and its interaction with neurotensin

(2014) Esben M. Quistgaard et al.   PROTEIN SCIENCE

A sequence variant associated with sortilin-1 (SORT1) on 1p13.3 is independently associated with abdominal aortic aneurysm

(2013) Gregory T. Jones et al.   HUMAN MOLECULAR GENETICS

The Pro-Neurotrophin Receptor Sortilin Is a Major Neuronal Apolipoprotein E Receptor for Catabolism of Amyloid-  Peptide in the Brain

(2013) A.-S. Carlo et al.   JOURNAL OF NEUROSCIENCE

Evaluation of the Metabochip Genotyping Array in African Americans and Implications for Fine Mapping of GWAS-Identified Loci: The PAGE Study

(2012) Steven Buyske et al.   PLoS One

Effects of the PPAR-δ agonist MBX-8025 on atherogenic dyslipidemia

(2011) Yun-Jung Choi et al.   ATHEROSCLEROSIS

Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega

(2011) F. Sievers et al.   Molecular Systems Biology

Sort1, Encoded by the Cardiovascular Risk Locus 1p13.3, Is a Regulator of Hepatic Lipoprotein Export

(2010) Mads Kjolby et al.   Cell Metabolism

Association of Genetic Risk Variants With Expression of Proximal Genes Identifies Novel Susceptibility Genes for Cardiovascular Disease

(2010) Lasse Folkersen et al.   Circulation-Cardiovascular Genetics

From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus

(2010) Kiran Musunuru et al.   NATURE

Biological, clinical and population relevance of 95 loci for blood lipids

(2010) Tanya M. Teslovich et al.   NATURE

Genetics and Beyond – The Transcriptome of Human Monocytes and Disease Susceptibility

(2010) Tanja Zeller et al.   PLoS One

Linking Variants From Genome-Wide Association Analysis to Function via Transcriptional Network Analysis

(2010) Benjamin Keller et al.   SEMINARS IN NEPHROLOGY

Jalview Version 2--a multiple sequence alignment editor and analysis workbench

(2009) A. M. Waterhouse et al.   BIOINFORMATICS

Ligands bind to Sortilin in the tunnel of a ten-bladed β-propeller domain

(2009) Esben M Quistgaard et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

In Reply

(2008) M. P. Caulfield et al.   CLINICAL CHEMISTRY

Direct Determination of Lipoprotein Particle Sizes and Concentrations by Ion Mobility Analysis

(2008) M. P. Caulfield et al.   CLINICAL CHEMISTRY

LDL-cholesterol concentrations: a genome-wide association study

(2008) Manjinder S Sandhu et al.   LANCET

Genome-wide association analysis of metabolic traits in a birth cohort from a founder population

(2008) Chiara Sabatti et al.   NATURE GENETICS

Common variants at 30 loci contribute to polygenic dyslipidemia

(2008) Sekar Kathiresan et al.   NATURE GENETICS

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans

(2008) Sekar Kathiresan et al.   NATURE GENETICS

Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts

(2008) Yurii S Aulchenko et al.   NATURE GENETICS

A Null Mutation in Human APOC3 Confers a Favorable Plasma Lipid Profile and Apparent Cardioprotection

(2008) T. I. Pollin et al.   SCIENCE

Mapping the Genetic Architecture of Gene Expression in Human Liver

(2008) Eric E Schadt et al.   PLOS BIOLOGY