Associated Papers
Understanding genomic medicine for thoracic aortic disease through the lens of induced pluripotent stem cells.
Singh AA et al.
Frontiers in Cardiovascular Medicine, 2024
A novel pathogenic variant located just upstream of the C-terminal Ser423-X-Ser425 phosphorylation motif in SMAD3 causing Loeys-Dietz syndrome.
Ishii S et al.
Molecular Genetics & Genomic Medicine, 2023
hiPSC Modeling of Lineage-Specific Smooth Muscle Cell Defects Caused by TGFBR1A230T Variant, and Its Therapeutic Implications for Loeys-Dietz Syndrome.
Zhou D et al.
Circulation, 2021
In Vitro Lineage-Specific Differentiation of Vascular Smooth Muscle Cells in Response to SMAD3 Deficiency: Implications for SMAD3-Related Thoracic Aortic Aneurysm.
Gong J et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2020
SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium.
Hostetler EM et al.
Journal of Medical Genetics, 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
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Schepers D et al.
Human Mutation, 2018
A novel SMAD3 mutation caused multiple aneurysms in a patient without osteoarthritis symptoms.
Courtois A et al.
European Journal of Medical Genetics, 2017
A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome.
Zhang W et al.
Biomed Research International, 2015
Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections.
Milewicz DM et al.
Trends in Cardiovascular Medicine, 2014
Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype.
Wischmeijer A et al.
American Journal of Medical Genetics. Part A, 2013
An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection.
Hilhorst-Hofstee Y et al.
Clinical Genetics, 2013
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms.
Regalado ES et al.
Circulation Research, 2011
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