It presents a brief review on the history of the disease.VanUniversityDeUniversityVeldeUniversitySamuelUniversityFillmanUniversityRamonaUniversityYandowUniversitySuzanneUniversityJournal of Bone & Joint Surgery, American VolumeVan de Velde S, Fillman R, Yandow S. Protrusio acetabuli in Marfan syndrome. ...
Neonatal Marfan Syndrome with Novel Fibrillin-1 Gene Mutation: A Case Report Evdoxia Sapountzi*,Alexandra Staberna,Styliani Fidani,Anastasia Keivanidou,Andreas GiannopoulosandAssimina Galli-Tsinopoulou DOI:10.37421/2684-4915.2023.7.276 Preview Abstract ...
Current and future pharmacological treatment strategies with regard to aortic disease in Marfan syndrome INTRODUCTION: Marfan syndrome is a multisystemic connective tissue disorder caused mainly by mutations in the fibrillin-1 gene. The entire cardiovascular s... AW Hartog,R Franken,AH Zwinderman,......
Translational medicine: towards gene therapy of Marfan Syndrome. J Clin Med. 2022;11(14):3934. https://doi.org/10.3390/jcm11143934. Zeng Y, et al. Correction of the Marfan Syndrome Pathogenic FBN1 Mutation by Base Editing in Human Cells and Heterozygous Embryos. Mol Ther. 2018;26(11):...
Harnessing iPSCs to Model Marfan Syndrome: Advancing Clinical Diagnosis and Drug Discovery Zina Zein Abdin Hao Yin Mark Chandy Review 12 February 2025 Article: 20 Part of 2 collections: Topical Collection on Regenerative Medicine and Stem-cell Therapy Topical Collection on Regenerative Medicine ...
57 Some issues were raised regarding the occurrence of a syndrome named nephrogenic systemic fibrosis, which limits the applicability of CE-MRA in patients with renal insufficiency.58 There is active research going on investigating the relevance of Gd-deposition in the human body after CE exams, ...
Cardiac magnetic resonance myocardial perfusion reserve index is reduced in women with coronary microvascular dysfunction: a national heart, lung, and blood institute-sponsored study from the Women’s Ischaemia Syndrome Evaluation. Circ Cardiovasc Imaging. 2015;8:e002481. https://doi.org/10.1161/CIRC...
(e.g. cardiomyopathy-long QT syndrome (LQTS)), endothelial cells (e.g. pulmonary arterial hypertension and Fabry disease), vascular smooth muscle cells (i.e., aortic aneurysm-Marfan syndrome), macrophages (e.g. Gaucher disease) and megakaryocytes (e.g. platelet disorders) as well as for ...
(ALS) model mice, prolonging survival79. TheHBBgene mutation that causes β-thalassemia was corrected by BE3 or its variant YEE-BE3 in skin fibroblasts, human embryos, and blastomeres80. TheFBN1mutation, a cause of Marfan syndrome81, was repaired in human embryos using YE1-BE3 or YEE-...
male or female bodies, e.g., due to aneuploidy) [56,57], and Klinefelter syndrome [55,58,59]. Among rare conditions, previous research reported several cases of Marfan syndrome [60], scleroderma [61,62], multiple epiphyseal dysplasia [63], Cutis laxa [64], and Bart’s syndrome [65]...