Varaico: Literature-Extracted Genetic Variants

Gene:LCAT
Variant:p.V333M
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LCAT

NM_000229.2:p.V333M

Associated Papers

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

35065092 (PubMed )
Supplement: mmc1.pdf

LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred.

Mehta R et al.

Lipids in Health and Disease, 2021

Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase gene in a Chilean patient with hypoalphalipoproteinemia.

Tobar HE et al.

Lipids in Health and Disease, 2019

Polygenic determinants in extremes of high-density lipoprotein cholesterol.

Dron JS et al.

Journal of Lipid Research, 2017

28870971 (PubMed )
Supplement: 10.1194_M079822_jlr.M079822-1.pdf

Lipoprotein subfractions highly associated with renal damage in familial lecithin:cholesterol acyltransferase deficiency.

Kuroda M et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2014

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

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."