Associated Papers
Bicuspid Aortic Valve in Heritable Thoracic Aortic Disease: Insights from the Montalcino Aortic Consortium.
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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
The use of segregation analysis in interpretation of sequence variants in SMAD3: A case report.
Ratajska A et al.
Molecular Genetics & Genomic Medicine, 2023
Molecular Basis of Mismatch Repair Protein Deficiency in Tumors from Lynch Suspected Cases with Negative Germline Test Results.
Olkinuora A et al.
Cancers, 2020
32660107 (PubMed )
Supplement: cancers-12-01853-s001.zip › Supplementary_Files_olkinuora › Table_S2_olkinuora.xlsx › Table_S2
Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway.
Kang H et al.
The Journal of Experimental Medicine, 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
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Schepers D et al.
Human Mutation, 2018
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