Results 51 to 60 of about 340,370 (339)

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

medRxiv, 2021
Purpose: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published consensus standardized guidelines for variant classification in Mendelian disorders.
J. Chora, M. Iacocca, Lukáš Tichý, H. Wand, C. L. Kurtz, H. Zimmermann, Annette Leon, Maggie Williams, Steve E Humphries, A. Hooper, M. Trinder, L. Brunham, Alexandre C. Pereira, C. Jannes, Margaret Chen, Jessica Chonis, Jian Wang, Serra Kim, Tami Johnston, P. Souček, M. Kramárek, Sarah E. Leigh, A. Carrié, Eric J. Sijbrands, R. Hegele, Tomáš Freiberger, Joshua W. Knowles, M. Bourbon   +27 more
semanticscholar   +1 more source

Searching for new genes associated with the familial hypercholesterolemia phenotype using whole-genome sequencing and machine learning

Вавиловский журнал генетики и селекции, 2023
One of the most common congenital metabolic disorders is familial hypercholesterolemia. Familial hyper-cholesterolemia is a condition caused by a type of genetic defect leading to a decreased rate of removal of low-density lipoproteins from the ...
D. E. Ivanoshchuk, A. B. Kolker, O. V. Timoshchenko, S. E. Semaev, E. V. Shakhtshneider   +4 more
doaj   +1 more source

Equivalent Impact of Elevated Lipoprotein(a) and Familial Hypercholesterolemia in Patients With Atherosclerotic Cardiovascular Disease.

Journal of the American College of Cardiology, 2022
BACKGROUND Genetically elevated plasma lipoprotein(a) and familial hypercholesterolemia each result in premature atherosclerotic cardiovascular disease (ASCVD); however, a direct comparison in the same population is needed of these 2 genetic traits on ...
B. Hedegaard, C. Bork, M. Kaltoft, I. Klausen, E. Schmidt, P. Kamstrup, A. Langsted, B. Nordestgaard   +7 more
semanticscholar   +1 more source

Familial hypercholesterolemia

Saudi Medical Journal, 2007
Familial homozygous hypercholesterolemia is a rare autosomal disorder characterized by high levels of cholesterol, extensive tendon xanthomatosis and premature development of atherosclerotic disease. Early coronary artery disease with myocardial infarctions and sudden deaths are common.
Parvaiz A, Koul, Rafi A, Jan, Abdul B, Wahid, Tariq A, Bhat, Syed M, Mudassir   +4 more
openaire   +3 more sources

Hypercholesterolemia in children and adolescents: focus on the familial variant

Медицинский совет, 2021
Familial hypercholesterolemia is characterized by a significant increase in serum low-density lipoprotein cholesterol concentration, which even in the absence of other risk factors leads to the development of atherosclerotic vascular lesions beginning in
I. N. Zakharova, I. M. Osmanov, I. I. Pshenichnikova, T. M. Tvorogova, I. N. Kholodova, I. V. Berezhnaya, E. V. Skorobogatova, D. I. Kholodov, T. I. Bocharova, Yu. V. Koba   +9 more
doaj   +1 more source

Exosome-based Ldlr gene therapy for familial hypercholesterolemia in a mouse model

Theranostics, 2021
Familial hypercholesterolemia (FH), with high LDL (low-density lipoprotein) cholesterol levels, is due to inherited mutations in genes, such as low-density lipoprotein receptor (LDLR).
Zhelong Li, Ping Zhao, Yajun Zhang, Jia Wang, Chen Wang, Yunnan Liu, Guodong Yang, Lijun Yuan   +7 more
semanticscholar   +1 more source

Precision screening for familial hypercholesterolaemia: a machine learning study applied to electronic health encounter data

The Lancet: Digital Health, 2019
Summary: Background: Cardiovascular outcomes for people with familial hypercholesterolaemia can be improved with diagnosis and medical management. However, 90% of individuals with familial hypercholesterolaemia remain undiagnosed in the USA. We aimed to
Kelly D Myers, BS, Joshua W Knowles, MD, David Staszak, PhD, Michael D Shapiro, DO, William Howard, PhD, Mrinal Yadava, MD, David Zuzick, MBA, Latoya Williamson, MS, Nigam H Shah, PhD, Juan M Banda, PhD, Joe Leader, BS, William C Cromwell, MD, Ed Trautman, PhD, Michael F Murray, ProfMD, Seth J Baum, MD, Seth Myers, PhD, Samuel S Gidding, MD, Katherine Wilemon, BS, Daniel J Rader, ProfMD   +18 more
doaj   +1 more source

ANGPTL3 Inhibition With Evinacumab Results in Faster Clearance of IDL and LDL apoB in Patients With Homozygous Familial Hypercholesterolemia—Brief Report

Arteriosclerosis, Thrombosis and Vascular Biology, 2021
Supplemental Digital Content is available in the text. Objective: The mechanism by which evinacumab, a fully human monoclonal antibody directed against ANGPTL3 (angiopoietin-like 3 protein) lowers plasma LDL (low-density lipoprotein) cholesterol levels ...
L. Reeskamp, J. Millar, Liya Wu, H. Jansen, D. van Harskamp, H. Schierbeek, D. Gipe, D. Rader, G. Dallinga-Thie, G. Hovingh, M. Cuchel   +10 more
semanticscholar   +1 more source

Association of the Interaction Between Familial Hypercholesterolemia Variants and Adherence to a Healthy Lifestyle With Risk of Coronary Artery Disease

JAMA Network Open, 2022
Key Points Question Is adherence to a healthy lifestyle associated with lower risk of coronary artery disease in carriers and noncarriers of pathogenic DNA variants in familial hypercholesterolemia–related genes?
A. Fahed, Minxian Wang, A. Patel, Ezim Ajufo, Dimitri J. Maamari, Krishna G. Aragam, Deanna G. Brockman, Trish Vosburg, P. Ellinor, Kenney Ng, A. Khera   +10 more
semanticscholar   +1 more source

The Added Value of Coronary Calcium Score in Predicting Cardiovascular Events in Familial Hypercholesterolemia.

JACC Cardiovascular Imaging, 2021
OBJECTIVES This study aimed at investigating the additional contribution of coronary artery calcium (CAC) score to SAFEHEART (Spanish Familial Hypercholesterolemia Cohort Study) risk equation (SAFEHEART-RE) for cardiovascular risk prediction in ...
A. Gallo, L. Pérez de Isla, S. Charrière, A. Vimont, R. Alonso, O. Muñiz-Grijalvo, J. Díaz-Díaz, D. Zambón, P. Moulin, E. Bruckert, P. Mata, S. Béliard   +11 more
semanticscholar   +1 more source