Associated Papers
Decoding clinical diversity in monogenic TGFBR1 and TGFBR2 mutations: insights into the interplay of molecular mechanisms and hypomorphicity.
Abu-Sailik F et al.
Frontiers in Cell and Developmental Biology, 2025
Association of gene polymorphisms in MYH11 and TGF-β signaling with the susceptibility and clinical outcomes of DeBakey type III aortic dissection.
Chang Y et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2022
Application of CRISPR-Cas9 gene editing for congenital heart disease.
Seok H et al.
Clinical and Experimental Pediatrics, 2021
Multiple Self-Healing Squamous Epithelioma (MSSE): A Digenic Trait Associated with Loss of Function Mutations in TGFBR1 and Variants at a Second Linked Locus on the Long Arm of Chromosome 9.
Goudie D
Genes, 2020
Unique Mechanism by Which TGFBR1 Variants Cause 2 Distinct System Diseases - Loeys-Dietz Syndrome and Multiple Self-Healing Squamous Epithelioma.
Fujiwara T et al.
Circulation Reports, 2019
Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys-Dietz syndrome or multiple self-healing squamous epithelioma.
Fujiwara T et al.
European Journal of Human Genetics : Ejhg, 2018
TGF-β Signaling-Related Genes and Thoracic Aortic Aneurysms and Dissections.
Takeda N et al.
International Journal of Molecular Sciences, 2018
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