Associated Papers
Pulmonary Vascular Abnormalities and Spontaneous Pneumothorax in Loeys-Dietz Syndrome.
Arai W et al.
Pathology International, 2026
Molecular insights into TGF-B signalling pathway disruption by non-synonymous SNPs variants in COPD: an in silico and molecular dynamics simulation study.
Mahajan N et al.
Journal of Biomolecular Structure & Dynamics, 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 › TGFBR2
Early clinical outcomes and molecular smooth muscle cell phenotyping using a prophylactic aortic arch replacement strategy in Loeys-Dietz syndrome.
Pedroza AJ et al.
The Journal of Thoracic and Cardiovascular Surgery, 2023
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
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
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
24941995 (PubMed )
Supplement: 1471-2156-15-74-S2.docx
Mutations of the TGFBR2 gene in Chinese patients with Marfan-related syndrome.
Chen J et al.
Clinical and Investigative Medicine. Medecine Clinique Et Experimentale, 2010
A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2.
Frederic MY et al.
Human Mutation, 2008
Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.
Mizuguchi T et al.
Journal of Human Genetics, 2007
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
Loeys BL et al.
The New England Journal of Medicine, 2006
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.
Singh KK et al.
Human Mutation, 2006
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