Associated Papers
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 › TGFBR2
Genetic variants in Chinese patients with sporadic Stanford type A aortic dissection.
Chen ZR et al.
Journal of Thoracic Disease, 2021
Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.
Camerota L et al.
Genes, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signaling.
Cousin MA et al.
Cold Spring Harbor Molecular Case Studies, 2017
Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing.
Zimmermann MT et al.
Plos One, 2017
Mutational inactivation of TGFBR2 in microsatellite unstable colon cancer arises from the cooperation of genomic instability and the clonal outgrowth of transforming growth factor beta resistant cells.
Biswas S et al.
Genes, Chromosomes & Cancer, 2008
Rapid aneurysmal degeneration of a Stanford type B aortic dissection in a patient with Loeys-Dietz syndrome.
Lee RS et al.
The Journal of Thoracic and Cardiovascular Surgery, 2007
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