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
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
Features of multiple self-healing squamous epithelioma and Loeys-Dietz syndrome in a patient with a novel TGFBR1 variant.
Sirisomboonwong KE et al.
American Journal of Medical Genetics. Part A, 2018
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
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.
Goudie DR et al.
Nature Genetics, 2011
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