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
Loeys-Dietz syndrome subtypes exhibit distinct clinical behavior and aortic cellular transcriptomic profiles.
Pedroza AJ et al.
Jtcvs Open, 2025
The endometrial cancer A230V-ALK5 (TGFBR1) mutant attenuates TGF-β signaling and exhibits reduced in vitro sensitivity to ALK5 inhibitors.
Yu EJ et al.
Plos One, 2024
Genetic diagnosis for adult patients at a genetic clinic.
Rojnueangnit K et al.
Cold Spring Harbor Molecular Case Studies, 2022
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
Clinical Impact of Prospective Whole Genome Sequencing in Sarcoma Patients.
Schipper LJ et al.
Cancers, 2022
Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.
Nayak SS et al.
Scientific Reports, 2021
Genomic Landscape in Neoplasm-Like Stroma Reveals Distinct Prognostic Subtypes of Pancreatic Ductal Adenocarcinoma.
Jiang J et al.
Frontiers in Oncology, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 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
Analysis of error profiles in deep next-generation sequencing data.
Ma X et al.
Genome Biology, 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
Sporadic Early-Onset Diffuse Gastric Cancers Have High Frequency of Somatic CDH1 Alterations, but Low Frequency of Somatic RHOA Mutations Compared With Late-Onset Cancers.
Cho SY et al.
Gastroenterology, 2017
Analysis of somatic mutations across the kinome reveals loss-of-function mutations in multiple cancer types.
Kumar RD et al.
Scientific Reports, 2017
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.
Wooderchak-Donahue W et al.
American Journal of Medical Genetics. Part A, 2015
Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin.
Alakus H et al.
Genome Medicine, 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
Histopathologic findings in ascending aortas from individuals with Loeys-Dietz syndrome (LDS).
Maleszewski JJ et al.
The American Journal of Surgical Pathology, 2009
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
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
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
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.
Adès LC et al.
American Journal of Medical Genetics. Part A, 2006