Varaico: Literature-Extracted Genetic Variants

Gene:LOX
Variant:p.S280R
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LOX

NM_002317.7:p.S280R

Associated Papers

Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings.

Van Gucht I et al.

International Journal of Molecular Sciences, 2021

Novel Mutation in LOX Associates With a Complex Aneurysmal Vascular and Cardiac Phenotype.

Cirnu A et al.

Circulation. Genomic and Precision Medicine, 2021

Intracellular retention of mutant lysyl oxidase leads to aortic dilation in response to increased hemodynamic stress.

Lee VS et al.

Jci Insight, 2019

Fibrillin microfibrils and elastic fibre proteins: Functional interactions and extracellular regulation of growth factors.

Thomson J et al.

Seminars in Cell & Developmental Biology, 2019

Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease.

Mariscalco G et al.

Journal of the American Heart Association, 2018

30371227 (PubMed )
Supplement: JAH3-7-e009302-s001.pdf

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

Guo DC et al.

Circulation Research, 2016

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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."