Genes Potentially Associated with Familial Hypercholesterolemia

Evaluation of two approaches to lysosomal acid lipase deficiency patient identification: An observational retrospective study

(2019) Jorge J. Cebolla et al.   ATHEROSCLEROSIS

Heterozygous familial hypercholesterolaemia in a pair of identical twins: a case report and updated review

(2019) Noor Shafina Mohd Nor et al.   BMC Pediatrics

The roles of transmembrane 6 superfamily member 2 rs58542926 polymorphism in chronic liver disease: A meta‐analysis of 24,147 subjects

(2019) Xinpei Chen et al.   Molecular Genetics & Genomic Medicine

Toward a new clinical classification of patients with familial hypercholesterolemia: One perspective from Spain

(2019) Luis Masana et al.   ATHEROSCLEROSIS

Variants In Signal Transducing Adaptor Family Member 1 (Stap1) Do Not Affect Ldl-Cholesterol

(2019) M. Hartgers et al.   ATHEROSCLEROSIS

A common variant in CCDC93 protects against myocardial infarction and cardiovascular mortality by regulating endosomal trafficking of low-density lipoprotein receptor

(2019) Antoine Rimbert et al.   EUROPEAN HEART JOURNAL

Evaluation of the role of STAP1 in Familial Hypercholesterolemia

(2019) Magdalena Danyel et al.   Scientific Reports

The TM6SF2 E167K genetic variant induces lipid biosynthesis and reduces apolipoprotein B secretion in human hepatic 3D spheroids

(2019) Sebastian Prill et al.   Scientific Reports

Hepatic NPC1L1 promotes hyperlipidemia in LDL receptor deficient mice

(2018) Youlin Wang et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

MiRNA-17 encoded by the miR-17-92 cluster increases the potential for steatosis in hepatoma cells by targeting CYP7A1

(2018) Ruijie Gong et al.   CELLULAR & MOLECULAR BIOLOGY LETTERS

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

Genetic variants in CYP7A1 and risk of myocardial infarction and symptomatic gallstone disease

(2018) Faiza Qayyum et al.   EUROPEAN HEART JOURNAL

ABCG5 and ABCG8: more than a defense against xenosterols

(2018) Shailendra B. Patel et al.   JOURNAL OF LIPID RESEARCH

Prevalence of cholesteryl ester storage disease among hypercholesterolemic subjects and functional characterization of mutations in the lysosomal acid lipase gene

(2018) Terje Vinje et al.   MOLECULAR GENETICS AND METABOLISM

LIMA1 variant influences cholesterol absorption

(2018) Gregory B. Lim   Nature Reviews Cardiology

ALIMA1variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption

(2018) Ying-Yu Zhang et al.   SCIENCE

Structural snapshot of the cholesterol-transport ATP-binding cassette proteins

(2018) Bala M. Xavier et al.   Biochemistry and Cell Biology

Clinical Genetic Testing for Familial Hypercholesterolemia

(2018) Amy C. Sturm et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

A rare STAP1 mutation incompletely associated with familial hypercholesterolemia

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

New approach for understanding genome variations in KEGG

(2018) Minoru Kanehisa et al.   NUCLEIC ACIDS RESEARCH

Recent advances in genetic testing for familial hypercholesterolemia

(2017) Michael A. Iacocca et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?

(2017) Joana Rita Chora et al.   Journal of Clinical Lipidology

ABCG5/G8 gene is associated with hypercholesterolemias without mutation in candidate genes and noncholesterol sterols

(2017) Itziar Lamiquiz-Moneo et al.   Journal of Clinical Lipidology

Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome

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

Genetic determinants of inherited susceptibility to hypercholesterolemia – a comprehensive literature review

(2017) CS Paththinige et al.   Lipids in Health and Disease

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

(2016) Barbara Sjouke et al.   ATHEROSCLEROSIS

Diurnal variation in cholesterol 7α-hydroxylase activity is determined by the -203A>C polymorphism of the CYP7A1 gene

(2016) Miluše Vlachová et al.   CROATIAN MEDICAL JOURNAL

Two novel mutations in the ABCG5 gene, c.144 -1G>A and c.1523 delC, in a Mexican family with sitosterolemia

(2016) Ana Gabriela Colima Fausto et al.   Journal of Clinical Lipidology

Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia

(2016) Amit V. Khera et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Crystal structure of the human sterol transporter ABCG5/ABCG8

(2016) Jyh-Yeuan Lee et al.   NATURE

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

The Agenda for Familial Hypercholesterolemia

(2015) Samuel S. Gidding et al.   CIRCULATION

CYP7A1Gene Polymorphism Located in the 5′ Upstream Region Modifies the Risk of Coronary Artery Disease

(2015) Tomasz Iwanicki et al.   DISEASE MARKERS

Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment

(2015) Albert Wiegman et al.   EUROPEAN HEART JOURNAL

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

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

Identification and metabolic profiling of patients with lysosomal acid lipase deficiency

(2015) Clive R. Pullinger et al.   Journal of Clinical Lipidology

Expression and functional characterization of human lysosomal acid lipase gene (LIPA) mutation responsible for cholesteryl ester storage disease (CESD) phenotype

(2015) Francis Rajamohan et al.   PROTEIN EXPRESSION AND PURIFICATION

Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency

(2015) Yuritzi Santillán-Hernández et al.   WORLD JOURNAL OF GASTROENTEROLOGY

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

Lysosomal acid lipase deficiency – An under-recognized cause of dyslipidaemia and liver dysfunction

(2014) Željko Reiner et al.   ATHEROSCLEROSIS

Mutations in STAP1 Are Associated With Autosomal Dominant Hypercholesterolemia

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

FH4= STAP1 . Another Gene for Familial Hypercholesterolemia?

(2014) Ian N.M. Day   CIRCULATION RESEARCH

Neutral Lipid Stores and Lipase PNPLA5 Contribute to Autophagosome Biogenesis

(2014) Nicolas Dupont et al.   CURRENT BIOLOGY

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society

(2014) M. Cuchel et al.   EUROPEAN HEART JOURNAL

Early onset hypercholesterolemia induced by the 2nd-generation tyrosine kinase inhibitor nilotinib in patients with chronic phase-chronic myeloid leukemia

(2014) D. Rea et al.   HAEMATOLOGICA

The ABCG5/8 Cholesterol Transporter and Myocardial Infarction Versus Gallstone Disease

(2014) Stefan Stender et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

ABCG5/8 variants are associated with susceptibility to coronary heart disease

(2014) GE WU et al.   Molecular Medicine Reports

A novel mutation ofABCG5gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis

(2014) Zühre Kaya et al.   PEDIATRIC BLOOD & CANCER

Association of Three Common Single Nucleotide Polymorphisms of ATP Binding Cassette G8 Gene with Gallstone Disease: A Meta-Analysis

(2014) Zhao-Yan Jiang et al.   PLoS One

APOE p.Leu167del mutation in familial hypercholesterolemia

(2013) Zuhier Awan et al.   ATHEROSCLEROSIS

Cooperative transcriptional activation of ATP-binding cassette sterol transporters ABCG5 and ABCG8 genes by nuclear receptors including Liver-X-Receptor

(2013) Su Sun Back et al.   BMB Reports

Role of the ABCG8 19H risk allele in cholesterol absorption and gallstone disease

(2013) Olga Renner et al.   BMC GASTROENTEROLOGY

ABCG5/ABCG8 in cholesterol excretion and atherosclerosis

(2013) Xiao-Hua Yu et al.   CLINICA CHIMICA ACTA

Lysosomal acid lipase A and the hypercholesterolaemic phenotype

(2013) Sigrid W. Fouchier et al.   CURRENT OPINION IN LIPIDOLOGY

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

Frequency of the cholesteryl ester storage disease commonLIPAE8SJM mutation (c.894G>A) in various racial and ethnic groups

(2013) Stuart A. Scott et al.   HEPATOLOGY

Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation

(2013) Gerald F. Watts et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease

(2013) Donna L. Bernstein et al.   JOURNAL OF HEPATOLOGY

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

Peripheral artery occlusive disease in chronic phase chronic myeloid leukemia patients treated with nilotinib or imatinib

(2013) T D Kim et al.   LEUKEMIA

Identification of Diverse Lipid Droplet Targeting Motifs in the PNPLA Family of Triglyceride Lipases

(2013) Sricharan Murugesan et al.   PLoS One

Single Nucleotide Polymorphisms within LIPA (Lysosomal Acid Lipase A) Gene Are Associated with Susceptibility to Premature Coronary Artery Disease. A Replication in the Genetic of Atherosclerotic Disease (GEA) Mexican Study

(2013) Gilberto Vargas-Alarcón et al.   PLoS One

The ABCG8 G574R Variant, Serum Plant Sterol Levels, and Cardiovascular Disease Risk in the Old Order Amish

(2012) Richard B. Horenstein et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Mutations in the SORT1 gene are unlikely to cause autosomal dominant hypercholesterolemia

(2012) Kristian Tveten et al.   ATHEROSCLEROSIS

Genetic analysis of familial hypercholesterolaemia in Western Australia

(2012) Amanda J. Hooper et al.   ATHEROSCLEROSIS

Apolipoprotein E gene mutations in subjects with mixed hyperlipidemia and a clinical diagnosis of familial combined hyperlipidemia

(2012) María Solanas-Barca et al.   ATHEROSCLEROSIS

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

(2012) Marie Marduel et al.   HUMAN MUTATION

Association of ATP binding cassette transporter G8 rs4148217 SNP and serum lipid levels in Mulao and Han nationalities

(2012) Qing Li et al.   Lipids in Health and Disease

Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations

(2012) Sa. Muntoni et al.   NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES

Association of LIPA Gene Polymorphisms With Obesity-Related Metabolic Complications Among Severely Obese Patients

(2012) Frédéric Guénard et al.   Obesity

Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients

(2011) Anne C. Goldberg et al.   Journal of Clinical Lipidology

Intragenic deletion as a novel type of mutation in Wolman disease

(2011) Teresa M. Lee et al.   MOLECULAR GENETICS AND METABOLISM

The ABCG5 ABCG8 sterol transporter and phytosterols: implications for cardiometabolic disease

(2011) Nadezhda S Sabeva et al.   Current Opinion in Endocrinology Diabetes and Obesity

Genomics and proteomics of vertebrate cholesterol ester lipase (LIPA) and cholesterol 25-hydroxylase (CH25H)

(2011) Roger S. Holmes et al.   3 Biotech

Genetic variations at ABCG5/G8 genes modulate plasma lipids concentrations in patients with familial hypercholesterolemia

(2010) A. Garcia-Rios et al.   ATHEROSCLEROSIS

Genetic Regulation of Serum Phytosterol Levels and Risk of Coronary Artery Disease

(2010) Daniel Teupser et al.   Circulation-Cardiovascular Genetics

Frequencies of Four ATP-Binding Cassette Transporter G8 Polymorphisms in Patients with Ischemic Vascular Diseases

(2010) Anikó Szilvási et al.   Genetic Testing and Molecular Biomarkers

Sterol transporter adenosine triphosphate-binding cassette transporter G8, gallstones, and biliary cancer in 62,000 individuals from the general population

(2010) Stefan Stender et al.   HEPATOLOGY

Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France

(2010) Marie Marduel et al.   HUMAN MUTATION

ABCG5/G8 polymorphisms and markers of cholesterol metabolism: systematic review and meta-analysis

(2010) Lily Jakulj et al.   JOURNAL OF LIPID RESEARCH

Loops Govern SH2 Domain Specificity by Controlling Access to Binding Pockets

(2010) T. Kaneko et al.   Science Signaling

Glucose stimulates cholesterol 7α-hydroxylase gene transcription in human hepatocytes

(2009) Tiangang Li et al.   JOURNAL OF LIPID RESEARCH

An NPC1L1 gene promoter variant is associated with autosomal dominant hypercholesterolemia

(2009) B. Martín et al.   NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES

ABCG8 gene polymorphisms, plasma cholesterol concentrations, and risk of cardiovascular disease in familial hypercholesterolemia

(2008) Kristel C.M.C. Koeijvoets et al.   ATHEROSCLEROSIS

Induction of STAP-1 promotes neurotoxic activation of microglia

(2008) Katharina Stoecker et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases

(2008) Masako Togo et al.   CLINICA CHIMICA ACTA

Diagnosis of Familial Hypercholesterolemia in General Practice Using Clinical Diagnostic Criteria or Genetic Testing as Part of Cascade Genetic Screening

(2008) Trond P. Leren et al.   Public Health Genomics

Multiple genetic determinants of plasma lipid levels in Caribbean Hispanics

(2007) Yi-Chu Liao et al.   CLINICAL BIOCHEMISTRY