Oxidant/Antioxidant Profile in the Thoracic Aneurysm of Patients with the Loeys‐Dietz Syndrome

ME Soto, LG Manzano-Pech… - Oxidative Medicine …, 2020 - Wiley Online Library
Patients with the Loeys‐Dietz syndrome (LDS) have mutations in the TGF‐βR1, TGF‐βR2,
and SMAD3 genes. However, little is known about the redox homeostasis in the thoracic …

Loeys–Dietz syndrome pathology and aspects of cardiovascular management: A systematic review

R Iqbal, S Alom, J BinSaeid, A Harky - Vascular, 2021 - journals.sagepub.com
Loeys–Dietz syndrome is an autosomal dominant genetic disorder which is associated with
significant and often crucial vascular manifestations. This review is aimed to examine current …

[HTML][HTML] Activation of TGF-β signaling in an aortic aneurysm in a patient with Loeys-Dietz syndrome caused by a novel loss-of-function variant of TGFBR1

H Hara, N Takeda, T Fujiwara, H Yagi… - Human Genome …, 2019 - nature.com
Loeys–Dietz syndrome (LDS) is caused by variants of transforming growth factor-β (TGF-β)-
related genes and is characterized by aortic aneurysm and dissection. We report an LDS …

Decreased mitochondrial respiration in aneurysmal aortas of Fibulin-4 mutant mice is linked to PGC1A regulation

I Van Der Pluijm, J Burger… - Cardiovascular …, 2018 - academic.oup.com
Aim Thoracic aortic aneurysms are a life-threatening condition often diagnosed too late. To
discover novel robust biomarkers, we aimed to better understand the molecular mechanisms …

Analysis of oxidative stress enzymes and structural and functional proteins on human aortic tissue from different aortopathies

ME Soto, E Soria-Castro… - Oxidative Medicine …, 2014 - Wiley Online Library
The role of oxidative stress in different aortopathies is evaluated. Thirty‐two tissue samples
from 18 men and 14 women were divided into: 4 control (C) subjects, 11 patients with …

Glutathione system participation in thoracic aneurysms from patients with Marfan syndrome

AM Zúñiga-Muñoz, I Pérez-Torres, V Guarner-Lans… - Vasa, 2017 - econtent.hogrefe.com
Background: Aortic dilatation in Marfan syndrome (MFS) is progressive. It is associated with
oxidative stress and endothelial dysfunction that contribute to the early acute dissection of …

[HTML][HTML] Genotypic categorization of Loeys-Dietz syndrome based on 24 novel families and literature data

L Camerota, M Ritelli, A Wischmeijer, S Majore… - Genes, 2019 - mdpi.com
Loeys-Dietz syndrome (LDS) is a connective tissue disorder first described in 2005 featuring
aortic/arterial aneurysms, dissections, and tortuosity associated with craniofacial …

[HTML][HTML] Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation

M Ritelli, N Chiarelli, C Dordoni, S Quinzani… - BMC Medical …, 2014 - Springer
Abstract Background The Loeys-Dietz syndrome (LDS) is a rare autosomal dominant
disorder characterized by thoracic aortic aneurysm and dissection and widespread systemic …

[HTML][HTML] Oxidative stress-related susceptibility to aneurysm in Marfan's syndrome

J Rysz, A Gluba-Brzózka, R Rokicki, B Franczyk - Biomedicines, 2021 - mdpi.com
The involvement of highly reactive oxygen-derived free radicals (ROS) in the genesis and
progression of various cardiovascular diseases, including arrhythmias, aortic dilatation …

Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-Dietz syndrome

D Laterza, M Ritelli, A Zini, M Colombi… - European journal of …, 2019 - Elsevier
Abstract Introduction Loeys-Dietz syndrome (LDS) is an autosomal dominant connective
tissue disorder due to heterozygous pathogenic variants in transforming growth factor beta …