Associated Papers
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
Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.
Gold JI et al.
American Journal of Human Genetics, 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
Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.
Gold J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.
Yagyu T et al.
Journal of the American Heart Association, 2023
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
A step towards personalizing next line therapy for resected pancreatic and related cancer patients: A single institution's experience.
Lowder CY et al.
Surgical Oncology, 2020
Genetic profiling and cardiovascular phenotypic spectrum in a Chinese cohort of Loeys-Dietz syndrome patients.
Yang H et al.
Orphanet Journal of Rare Diseases, 2020
Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.
Camerota L et al.
Genes, 2019
Protective autophagy elicited by RAF→MEK→ERK inhibition suggests a treatment strategy for RAS-driven cancers.
Kinsey CG et al.
Nature Medicine, 2019
Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.
Weerakkody R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Genetic diagnosis of acute aortic dissection in South China Han population using next-generation sequencing.
Zheng J et al.
International Journal of Legal Medicine, 2018
High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations.
Extramiana F et al.
Scientific Reports, 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
Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.
Chalmers ZR et al.
Genome Medicine, 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
Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome.
Somers AE et al.
American Journal of Medical Genetics. Part A, 2016
Genetic testing of 10 patients with features of Loeys-Dietz syndrome.
Luo M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Genomic landscape of salivary gland tumors.
Kato S et al.
Oncotarget, 2015
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
Overexpression of Gremlin-1 in patients with Loeys-Dietz syndrome: implications on pathophysiology and early disease detection.
Wellbrock J et al.
Plos One, 2014
Familial aortic aneurysm and dissection due to transforming growth factor-beta receptor 2 mutation.
Edelman JJ et al.
Interactive Cardiovascular and Thoracic Surgery, 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
TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections.
Inamoto S et al.
Cardiovascular Research, 2010
Augmentation index and the evolution of aortic disease in marfan-like syndromes.
Mortensen K et al.
American Journal of Hypertension, 2010
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
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
Marfan syndrome and its disorder in periodontal tissues.
Suda N et al.
Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution, 2009
The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome.
Rybczynski M et al.
American Journal of Medical Genetics. Part A, 2008
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.
Stheneur C et al.
Human Mutation, 2008
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells.
de Beaucoudrey L et al.
The Journal of Experimental Medicine, 2008
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
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
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
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.
Pannu H et al.
Circulation, 2005
Heterozygous TGFBR2 mutations in Marfan syndrome.
Mizuguchi T et al.
Nature Genetics, 2004