Varaico: Literature-Extracted Genetic Variants

Gene:ACTA2
Variant:p.D26Y
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ACTA2

NM_001613.4:p.D26Y

Associated Papers

Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.

Yagyu T et al.

Journal of the American Heart Association, 2023

37042257 (PubMed )
Supplement: JAH3-12-e028625-s001.pdf

Whole-Exome Sequencing Identified Genes Responsible for Thoracic Aortic Aneurysms and Dissections in three Chinese Families.

Guo R et al.

Frontiers in Genetics, 2022

Actin Mutations and Their Role in Disease.

Parker F et al.

International Journal of Molecular Sciences, 2020

32397632 (PubMed )
Supplement: ijms-21-03371-s001.pdf

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

Molecular Regulation of Arterial Aneurysms: Role of Actin Dynamics and microRNAs in Vascular Smooth Muscle.

Alajbegovic A et al.

Frontiers in Physiology, 2017

Acute aortic dissections with pregnancy in women with ACTA2 mutations.

Regalado ES et al.

American Journal of Medical Genetics. Part A, 2014

Thoracic aortic aneurysm (TAAD)-causing mutation in actin affects formin regulation of polymerization.

Malloy LE et al.

The Journal of Biological Chemistry, 2012

Clinical, pathological, and genetic analysis of a Korean family with thoracic aortic aneurysms and dissections carrying a novel Asp26Tyr mutation.

Yoo EH et al.

Annals of Clinical and Laboratory Science, 2010

α-Smooth Muscle Actin and ACTA2 Gene Expressions in Vasculopathies.

Yuan SM

Brazilian Journal of Cardiovascular Surgery, 0

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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."