Associated Papers
Adalimumab-responsive Monogenic Inflammatory Bowel Disease With Pseudopolyposis Characteristic of TGFBR2 Variant in Loeys-Dietz Syndrome.
Sado T et al.
Den Open, 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
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
Genetic insights from a Brazilian cohort of aortopathies through targeted next-generation sequencing and FBN1 direct sequencing.
Rocha Ferreira J et al.
Scientific Reports, 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
Cardiovascular involvement and prognosis in Loeys-Dietz syndrome.
Chmielewski P et al.
Kardiologia Polska, 2023
A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.
Hoyer K et al.
Ebiomedicine, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Intrafamilial variability of cardiovascular abnormalities associated with the p.R460H mutation of the TGFBR2 gene.
Michałowska A et al.
Polish Archives of Internal Medicine, 2020
Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease.
Li J et al.
Science China. Life Sciences, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
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
High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations.
Extramiana F et al.
Scientific Reports, 2018
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
Loeys-Dietz Syndrome Complicated by Right Coronary Artery Pseudoaneurysm.
Jawaid Y et al.
Case Reports in Cardiology, 2018
Increased Prevalence of Inflammatory Bowel Disease in Patients with Mutations in Genes Encoding the Receptor Subunits for TGFβ.
Guerrerio AL et al.
Inflammatory Bowel Diseases, 2016
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.
Gormley P et al.
Nature Genetics, 2016
Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.
Campens L et al.
Orphanet Journal of Rare Diseases, 2015
Loeys-Dietz syndrome: a primer for diagnosis and management.
MacCarrick G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
Pearls and pitfalls in genetic studies of migraine.
Eising E et al.
Cephalalgia : an International Journal of Headache, 2013
Non-syndromic thoracic aortic aneurysms and dissections--a genetic review.
Zhang P et al.
Frontiers in Bioscience (landmark Edition), 2013
Genome-wide association analysis identifies susceptibility loci for migraine without aura.
Freilinger T et al.
Nature Genetics, 2012
Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms.
Regalado E et al.
American Journal of Medical Genetics. Part A, 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
Unique phenotype in a Chinese family pedigree: ectopia lentis with varicose great saphenous vein.
Shen W et al.
Eye (london, England), 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
Cellular and molecular mechanisms of thoracic aortic aneurysms.
El-Hamamsy I et al.
Nature Reviews. Cardiology, 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
Migraine and genetic and acquired vasculopathies.
Stam AH et al.
Cephalalgia : an International Journal of Headache, 2009
Histopathologic findings in ascending aortas from individuals with Loeys-Dietz syndrome (LDS).
Maleszewski JJ et al.
The American Journal of Surgical Pathology, 2009
Genes involved in the transforming growth factor beta signalling pathway and the risk of intracranial aneurysms.
Ruigrok YM et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2008
A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2.
Frederic MY et al.
Human Mutation, 2008
Migraine: gene mutations and functional consequences.
van den Maagdenberg AM et al.
Current Opinion in Neurology, 2007
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
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
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 of TGFbeta signaling molecules in human disease.
Harradine KA et al.
Annals of Medicine, 2006
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.
Pannu H et al.
Circulation, 2005