Associated Papers
Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families.
McKenzie F et al.
Clinical Genetics, 2021
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
Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia.
Verstraeten A et al.
Circulation, 2020
Intracellular retention of mutant lysyl oxidase leads to aortic dilation in response to increased hemodynamic stress.
Lee VS et al.
Jci Insight, 2019
Genetics of the extracellular matrix in aortic aneurysmal diseases.
Lin CJ et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2018
Exome Sequencing Identifies LOXL2 Mutation as a Cause of Familial Intracranial Aneurysm.
Wu Y et al.
World Neurosurgery, 2018
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.
Haghighi A et al.
Npj Genomic Medicine, 2018
A Novel Association between Lysyl Oxidase Gene Polymorphism and Intracranial Aneurysm in Koreans.
Hong EP et al.
Yonsei Medical Journal, 2017
Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans.
Lee VS et al.
Proceedings of the National Academy of Sciences of the United States of America, 2016
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