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
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
A genotype to phenotype relationship of exudative vitreoretinopathy in Loeys-Dietz syndrome due to a pathogenic variant in TGFBR2.
Lindquist M et al.
Ophthalmic Genetics, 2025
Valve Sparing Aortic Root Replacement in Loeys-Dietz Syndrome Type II: Is It Ever Too Early?
Almiqlash B et al.
Jacc. Case Reports, 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
Alterations of TGFBR2 and KRAS in cemento-osseous dysplasia of the jaw.
Owosho AA et al.
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2025
Pediatric David procedure for aneurysmally dilated ascending aorta in Loeys-Dietz syndrome.
Aggarwal P et al.
Indian Journal of Thoracic and Cardiovascular Surgery, 2025
Distinctive Amelogenesis Imperfecta in Loeys-Dietz Syndrome Type II.
Duverger O et al.
Journal of Dental Research, 2025
Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.
Berg T et al.
Neoplasia (new York, N.y.), 2025
Paired Comparison of Whole Genome Sequencing and Comprehensive Targeted Sequencing of Pancreatic Cancer Tissue.
Hvidtfeldt TA et al.
Anticancer Research, 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
Identification of Genetic Variants Associated with Hereditary Thoracic Aortic Diseases (HTADs) Using Next Generation Sequencing (NGS) Technology and Genotype-Phenotype Correlations.
Butnariu LI et al.
International Journal of Molecular Sciences, 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
Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.
Rosenberg S et al.
Molecular Oncology, 2023
Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method.
Almpani K et al.
Journal of Medical Genetics, 2022
Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature.
Baldo F et al.
Italian Journal of Pediatrics, 2022
Therapeutic Approach of Very Early-Onset Inflammatory Bowel Disease in a Loeys-Dietz Syndrome Child.
Opréa A et al.
Jpgn Reports, 2022
Loss of MMR and TGFBR2 Increases the Susceptibility to Microbiota-Dependent Inflammation-Associated Colon Cancer.
Tosti E et al.
Cellular and Molecular Gastroenterology and Hepatology, 2022
Application of CRISPR-Cas9 gene editing for congenital heart disease.
Seok H et al.
Clinical and Experimental Pediatrics, 2021
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
Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation.
Jani P et al.
Journal of Medical Genetics, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Latency and interval therapy affect the evolution in metastatic colorectal cancer.
Nikbakht H et al.
Scientific Reports, 2020
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.
Punta M et al.
Frontiers in Immunology, 2020
Detection of mutational patterns in cell-free DNA of colorectal cancer by custom amplicon sequencing.
Herrmann S et al.
Molecular Oncology, 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
Human Marfan and Marfan-like Syndrome associated mutations lead to altered trafficking of the Type II TGFβ receptor in Caenorhabditis elegans.
Lin J et al.
Plos One, 2019
NGS analysis in Marfan syndrome spectrum: Combination of rare and common genetic variants to improve genotype-phenotype correlation analysis.
Gentilini D et al.
Plos One, 2019
FEVR findings in patients with Loeys-Dietz syndrome type II.
Solinski MA et al.
Ophthalmic Genetics, 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
Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.
Valenzuela I et al.
European Journal of Medical Genetics, 2017
Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.
Ashktorab H et al.
Oncotarget, 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
Next-generation sequencing in patients with advanced cancer: are we ready for widespread clinical use? A single institute's experience.
Grenader T et al.
Anti-cancer Drugs, 2016
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
Genetic heterogeneity in synchronous colorectal cancers impacts genotyping approaches and therapeutic strategies.
Jesinghaus M et al.
Genes, Chromosomes & Cancer, 2016
Loeys-Dietz syndrome in a Southeast Asian Hospital: a case series.
Ting TW et al.
European Journal of Pediatrics, 2014
Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome--expanding the clinical spectrum.
Chung BH et al.
American Journal of Medical Genetics. Part A, 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
A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective.
Wooderchak-Donahue WL et al.
Bmc Medical Genomics, 2012
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
Carmignac V et al.
American Journal of Human Genetics, 2012
Loeys-Dietz syndrome presenting as respiratory distress due to pulmonary artery dilation.
Kuppler KM et al.
American Journal of Medical Genetics. Part A, 2012
Structural and functional impact of cancer-related missense somatic mutations.
Shi Z et al.
Journal of Molecular Biology, 2011
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.
Baetens M et al.
Human Mutation, 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