Associated Papers
Modeling thoracic aortic genetic variants in the zebrafish: useful for predicting clinical pathogenicity?
Prendergast A et al.
Frontiers in Cardiovascular Medicine, 2025
Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation.
de Wagenaar NP et al.
Human Molecular Genetics, 2024
38538566 (PubMed )
Supplement: supplementary_material_ddae044.pdf
Novel SMAD3 variant identified in a patient with familial aortopathy modeled using a zebrafish embryo assay.
Sheppard MB et al.
Frontiers in Cardiovascular Medicine, 2023
Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway.
Kang H et al.
The Journal of Experimental Medicine, 2020
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
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
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.
van de Laar IM et al.
Journal of Medical Genetics, 2012
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