Associated Papers
Modeling thoracic aortic genetic variants in the zebrafish: useful for predicting clinical pathogenicity?
Prendergast A et al.
Frontiers in Cardiovascular Medicine, 2025
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
Repeated Loss of Consciousness in a Young Woman: A Suspicious SMAD3 Mutation Underlying Spontaneous Coronary Artery Dissection.
Garcia-Bermúdez M et al.
The Canadian Journal of Cardiology, 2017
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