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
Loeys-Dietz syndrome in a Southeast Asian Hospital: a case series.
Ting TW et al.
European Journal of Pediatrics, 2014
TGFβ signaling and congenital heart disease: Insights from mouse studies.
Arthur HM et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2011
Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity.
Horbelt D et al.
Journal of Cell Science, 2010
Cancer-associated transforming growth factor beta type II receptor gene mutant causes activation of bone morphogenic protein-Smads and invasive phenotype.
Bharathy S et al.
Cancer Research, 2008
Transforming growth factor beta type I receptor kinase mutant associated with metastatic breast cancer.
Chen T et al.
Cancer Research, 1998
Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene.
Kiliç E et al.
The Turkish Journal of Pediatrics, 0
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