Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
A novel pathogenic variant in LCAT causing FLD. A case report.
Goñi Ros N et al.
Acta Clinica Belgica, 2022
A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency.
Vitali C et al.
Journal of Lipid Research, 2022
LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred.
Mehta R et al.
Lipids in Health and Disease, 2021
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
Role of apolipoproteins, ABCA1 and LCAT in the biogenesis of normal and aberrant high density lipoproteins.
Zannis VI et al.
Journal of Biomedical Research, 2017
Targeted next-generation sequencing to diagnose disorders of HDL cholesterol.
Sadananda SN et al.
Journal of Lipid Research, 2015
The Effect of Natural LCAT Mutations on the Biogenesis of HDL.
Fotakis P et al.
Biochemistry, 2015
HDL biogenesis, remodeling, and catabolism.
Zannis VI et al.
Handbook of Experimental Pharmacology, 2015
Lipoprotein subfractions highly associated with renal damage in familial lecithin:cholesterol acyltransferase deficiency.
Kuroda M et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2014
Identification of four novel genes contributing to familial elevated plasma HDL cholesterol in humans.
Singaraja RR et al.
Journal of Lipid Research, 2014
Identification of genetic variants of lecithin cholesterol acyltransferase in individuals with high HDL‑C levels.
Naseri M et al.
Molecular Medicine Reports, 2014
Evidence of a polygenic origin of extreme high-density lipoprotein cholesterol levels.
Motazacker MM et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2013
Lipid oxidation in carriers of lecithin:cholesterol acyltransferase gene mutations.
Holleboom AG et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2012
Patients with low HDL-cholesterol caused by mutations in LCAT have increased arterial stiffness.
van den Bogaard B et al.
Atherosclerosis, 2012
Lipoprotein distribution and serum concentrations of 7α-hydroxy-4-cholesten-3-one and bile acids: effects of monogenic disturbances in high-density lipoprotein metabolism.
Steiner C et al.
Clinical Science (london, England : 1979), 2012
Increased risk of coronary artery disease in Caucasians with extremely low HDL cholesterol due to mutations in ABCA1, APOA1, and LCAT.
Tietjen I et al.
Biochimica Et Biophysica Acta, 2012
Segregation of LIPG, CETP, and GALNT2 mutations in Caucasian families with extremely high HDL cholesterol.
Tietjen I et al.
Plos One, 2012
High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutations.
Holleboom AG et al.
Human Mutation, 2011
Reconstituted high-density lipoprotein shortens cardiac repolarization.
Den Ruijter HM et al.
Journal of the American College of Cardiology, 2011
Characterization of antioxidant/anti-inflammatory properties and apoA-I-containing subpopulations of HDL from family subjects with monogenic low HDL disorders.
Daniil G et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011
Novel pathogenic variant in the LCAT gene in a compound heterozygous patient with fish-eye disease and a mild phenotype.
Miyata M et al.
Journal of Clinical Lipidology, 0
A Novel Missense Mutation in a Compound Heterozygous Patient with Fish-Eye Disease: A Case Report.
Sitto MM et al.
Case Reports in Ophthalmology, 0