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Article

Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans.

Proceedings of the National Academy of Sciences of the United States of America - 2 Aug 2016

Lee Vivian S, Halabi Carmen M, Hoffman Erin P, Carmichael Nikkola, Leshchiner Ignaty, Lian Christine G, Bierhals Andrew J, Vuzman Dana, Mecham Robert P, Frank Natasha Y, Stitziel Nathan O

Abstract excerpt

Thoracic aortic aneurysms and dissections (TAAD) represent a substantial cause of morbidity and mortality worldwide. Many individuals presenting with an inherited form of TAAD do not have causal mutations in the set of genes known to underlie disease. Using whole-genome sequencing in two first cousins with TAAD, we identified a missense mutation in the lysyl oxidase (LOX) gene (c.893T > G encoding p.Met298Arg)...

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Share to Aortic Aneurysm, Thoracic
Share to Aortic Dissection

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Family Health

Share to Loss of Function Mutation

Share to Mice, Inbred C57BL

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Share to Protein-Lysine 6-Oxidase

Source

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Identifiers

PMID: 27432961
DOI: 10.1073/pnas.1601442113
PMCID: PMC4978273

Genes

LOX

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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