Associated Papers
Variability, asymmetry and sexual dimorphism in craniofacial anomalies in Loeys-Dietz syndrome 2: geometric morphometric analysis in mice.
Devine KR et al.
Scientific Reports, 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
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
Differential Analysis of Pathogenic Variants in Thoracic Aortic Aneurysm and Dissection at Different Ages.
Luo S et al.
Genetic Testing and Molecular Biomarkers, 2024
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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
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
Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease.
Mariscalco G et al.
Journal of the American Heart Association, 2018
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
Severe eczema and Hyper-IgE in Loeys-Dietz-syndrome - contribution to new findings of immune dysregulation in connective tissue disorders.
Felgentreff K et al.
Clinical Immunology (orlando, Fla.), 2014
Non-syndromic thoracic aortic aneurysms and dissections--a genetic review.
Zhang P et al.
Frontiers in Bioscience (landmark Edition), 2013
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
TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections.
Inamoto S et al.
Cardiovascular Research, 2010
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.
Attias D et al.
Circulation, 2009
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.
Tran-Fadulu V et al.
Journal of Medical Genetics, 2009
Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations.
Söylen B et al.
Clinical Genetics, 2009
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
Genetic basis of thoracic aortic aneurysms and dissections: potential relevance to abdominal aortic aneurysms.
Pannu H et al.
Annals of the New York Academy of Sciences, 2006
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.
Singh KK et al.
Human Mutation, 2006
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.
Pannu H et al.
Circulation, 2005