Associated Papers
Bicuspid Aortic Valve in Heritable Thoracic Aortic Disease: Insights from the Montalcino Aortic Consortium.
Asokan KL et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Loeys-Dietz syndrome subtypes exhibit distinct clinical behavior and aortic cellular transcriptomic profiles.
Pedroza AJ et al.
Jtcvs Open, 2025
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › SMAD3
Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway.
Kang H et al.
The Journal of Experimental Medicine, 2020
Genomic landscape of platinum resistant and sensitive testicular cancers.
Loveday C et al.
Nature Communications, 2020
32366847 (PubMed )
Supplement: 41467_2020_15768_MOESM7_ESM.xlsx › Supplementary_Data_4
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
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Schepers D et al.
Human Mutation, 2018
Isolated aortic dilation without osteoarthritis: a case of SMAD3 mutation.
Arroyave J et al.
Cardiology in the Young, 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
Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition.
Aubart M et al.
Plos One, 2014
Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin.
Alakus H et al.
Genome Medicine, 2014
24944587 (PubMed )
Supplement: gm559-S1.pdf
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