Associated Papers
Single cell analysis identifies a distinct population of fibroblasts that mediate increased cell-cell communication in murine aortopathy of Loeys-Dietz syndrome.
Jana S et al.
Journal of Molecular and Cellular Cardiology, 2025
Distinctive Amelogenesis Imperfecta in Loeys-Dietz Syndrome Type II.
Duverger O et al.
Journal of Dental Research, 2025
Management of an elderly patient with nonsyndromic TGFBR1-related aortopathy: A case report.
Aono-Setoguchi H et al.
Clinical Case Reports, 2024
Intrinsic Gata4 expression sensitizes the aortic root to dilation in a Loeys-Dietz syndrome mouse model.
Bramel EE et al.
Research Square, 2024
Bioengineered vascular grafts with a pathogenic TGFBR1 variant model aneurysm formation in vivo and reveal underlying collagen defects.
Yang Y et al.
Science Translational Medicine, 2024
A novel pathogenic variant located just upstream of the C-terminal Ser423-X-Ser425 phosphorylation motif in SMAD3 causing Loeys-Dietz syndrome.
Ishii S et al.
Molecular Genetics & Genomic Medicine, 2023
Epithelial-intrinsic defects in TGFβR signaling drive local allergic inflammation manifesting as eosinophilic esophagitis.
Laky K et al.
Science Immunology, 2023
Association of TGF-β Canonical Signaling-Related Core Genes With Aortic Aneurysms and Aortic Dissections.
Chen J et al.
Frontiers in Pharmacology, 2022
Transforming Growth Factor-β and the Renin-Angiotensin System in Syndromic Thoracic Aortic Aneurysms: Implications for Treatment.
van Dorst DCH et al.
Cardiovascular Drugs and Therapy, 2021
hiPSC Modeling of Lineage-Specific Smooth Muscle Cell Defects Caused by TGFBR1A230T Variant, and Its Therapeutic Implications for Loeys-Dietz Syndrome.
Zhou D et al.
Circulation, 2021
Functional similarity between TGF-beta type 2 and type 1 receptors in the female reproductive tract.
Ni N et al.
Scientific Reports, 2021
Insights on the Pathogenesis of Aneurysm through the Study of Hereditary Aortopathies.
Creamer TJ et al.
Genes, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
In Vitro Lineage-Specific Differentiation of Vascular Smooth Muscle Cells in Response to SMAD3 Deficiency: Implications for SMAD3-Related Thoracic Aortic Aneurysm.
Gong J et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 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
Lineage-specific events underlie aortic root aneurysm pathogenesis in Loeys-Dietz syndrome.
MacFarlane EG et al.
The Journal of Clinical Investigation, 2019
Mouse Models of Syndromic Craniosynostosis.
Lee KKL et al.
Molecular Syndromology, 2019
Activation of TGF-β signaling in an aortic aneurysm in a patient with Loeys-Dietz syndrome caused by a novel loss-of-function variant of TGFBR1.
Hara H et al.
Human Genome Variation, 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
TGF-β Signaling-Related Genes and Thoracic Aortic Aneurysms and Dissections.
Takeda N et al.
International Journal of Molecular Sciences, 2018
Pathophysiology and Management of Cardiovascular Manifestations in Marfan and Loeys-Dietz Syndromes.
Takeda N et al.
International Heart Journal, 2016
Angiotensin II-dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis.
Gallo EM et al.
The Journal of Clinical Investigation, 2014
TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating.
Cardoso S et al.
Journal of Receptor and Signal Transduction Research, 2012
Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?
Barnett CP et al.
European Journal of Human Genetics : Ejhg, 2011
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.
Goudie DR et al.
Nature Genetics, 2011
An integrated approach to the interpretation of single amino acid polymorphisms within the framework of CATH and Gene3D.
Izarzugaza JM et al.
Bmc Bioinformatics, 2009
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
Loeys BL et al.
The New England Journal of Medicine, 2006
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.
Mátyás G et al.
Human Mutation, 2006
[Genetic testing for Marfan syndrome].
Mizuguchi T et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2005
Molecular genetics of Marfan syndrome.
Boileau C et al.
Current Opinion in Cardiology, 2005
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
Loeys BL et al.
Nature Genetics, 2005
Molecular genetics of Marfan syndrome and Ehlers-Danlos type IV.
Milewicz DM
Current Opinion in Cardiology, 1998
Transforming growth factor-beta (TGF-β) in the pathogenesis of hereditary thoracic aneurysm disorders.
Espinoza Camejo WA et al.
Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0