Associated Papers
Development of a zebrafish model of Loeys-Dietz syndrome through tgfbr2b knockdown.
Chida R et al.
Journal of Human Genetics, 2026
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
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
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
Distinctive Amelogenesis Imperfecta in Loeys-Dietz Syndrome Type II.
Duverger O et al.
Journal of Dental Research, 2025
Defective Mitochondrial Respiration in Hereditary Thoracic Aneurysms.
Marcos-Ríos D et al.
Cells, 2025
Chemokine (C-C Motif) Ligand 2 Expressing Adventitial Fibroblast Expansion During Loeys-Dietz Syndrome Aortic Aneurysm Formation.
Dalal AR et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2025
Mitochondrial Dysfunction: A New Hallmark in Hereditable Thoracic Aortic Aneurysm Development.
Marcos-Ríos D et al.
Cells, 2025
Epithelial-intrinsic defects in TGFβR signaling drive local allergic inflammation manifesting as eosinophilic esophagitis.
Laky K et al.
Science Immunology, 2023
Functional similarity between TGF-beta type 2 and type 1 receptors in the female reproductive tract.
Ni N et al.
Scientific Reports, 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
Mouse Models of Syndromic Craniosynostosis.
Lee KKL et al.
Molecular Syndromology, 2019
HDAC9 complex inhibition improves smooth muscle-dependent stenotic vascular disease.
Lino Cardenas CL et al.
Jci Insight, 2019
TGF-β Signaling-Related Genes and Thoracic Aortic Aneurysms and Dissections.
Takeda N et al.
International Journal of Molecular Sciences, 2018
An HDAC9-MALAT1-BRG1 complex mediates smooth muscle dysfunction in thoracic aortic aneurysm.
Lino Cardenas CL et al.
Nature Communications, 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
Pathophysiology and Management of Cardiovascular Manifestations in Marfan and Loeys-Dietz Syndromes.
Takeda N et al.
International Heart Journal, 2016
Dysregulated TGF-β signaling alters bone microstructure in a mouse model of Loeys-Dietz syndrome.
Dewan AK et al.
Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society, 2015
Angiotensin II-dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis.
Gallo EM et al.
The Journal of Clinical Investigation, 2014
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
Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.
Chung BH et al.
American Journal of Medical Genetics. Part A, 2009
Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.
Mizuguchi T et al.
Journal of Human Genetics, 2007
Clinical features in a family with an R460H mutation in transforming growth factor beta receptor 2 gene.
Law C et al.
Journal of Medical Genetics, 2006
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
The molecular genetics of Marfan syndrome and related disorders.
Robinson PN et al.
Journal of Medical Genetics, 2006
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
Loeys BL et al.
The New England Journal of Medicine, 2006
Molecular pathology of Shprintzen-Goldberg syndrome.
Kosaki K et al.
American Journal of Medical Genetics. Part A, 2006
Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.
Disabella E et al.
European Journal of Human Genetics : Ejhg, 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