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Showing 1 to 13 of 13 for “"Marfan syndrome"”.

  1. Developing a Caenorhabditis elegans Model for Marfan Syndrome

    Fotopoulos, Pauline2019

    <p>Marfan Syndrome (MFS) is one of the most common monogenic diseases and affects approximately 1 in 5,000 individuals worldwide. The syndrome is characterized by elongated extremities, tall stature, slender frame, and cardiac, and vision abnormalities due to severe connective tissue defects. It is …

    vcu Repository record

  2. Cardiovascular characteristics in Marfan syndrome and their relation to the genotype

    De Backer, Julie2007

    ghent Repository record

  3. Development of Novel Therapies for Marfan Syndrome using a Human iPSC-disease model

    McNamara, Madeline Elizabeth OdileUniversity of Cambridge2019

    Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in fibrillin-1, a matrix component encoded by the gene FBN1, with pleiotropic manifestations including severe cardiovascular complications, such as aortic aneurysms and dissection. Current treatments focus on surgically …

    cambridge Repository record

  4. Biochemical Studies On The Marfan Syndrome: The Effects Of Glucosamine On Affected And Control Fibroblasts.

    Michael, Edward Barry

    uab Repository record

  5. Late Complications in the Descending Aorta Following Valve-Sparing Root Replacement (VSRR) in Marfan Syndrome (MFS) Patients: A Computational Analysis

    Tajeddinisarvestani, Farshad2025

    Patients with Marfan Syndrome (MFS) experience an elevated risk of aortic dissection in the descending aorta (DA) following root surgery. Geometric factors related to either native anatomy or the root surgery may alter hemodynamic factors in the DA, potentially predisposing it to dissection. This …

    toronto-retro Repository record

  6. The Marfan syndrome and related phenotypes : delineation of various phenotypes and analysis of the fibrillin gene (FBN1) for putative mutations

    Adés, Lesley Carole1995

    … and molecular study of patients with unequivocal Marfan sydnrome, or with an undiagnosed connective tissue disorder with some features in common with Marfan syndrome. Presents the phenotype of six Marfan patients with an FBN1 mutation, patients with Shprintzen-Goldberg syndrome or furlong …

    adelaide Repository record

  7. Genomic Analysis of Human Spinal Deformity and Characterization of a Zebrafish Disease Model

    Buchan, Jillian Gwen2015

    … in FBN1 are most frequently association with Marfan syndrome, a syndromic condition that causes scoliosis in 60% of patients. Based on these results, FBN1 and a related gene, FBN2 (fibrillin-2), were sequenced in a total of 852 AIS cases and 669 controls. In individuals of European ancestry, …

    wustl Repository record

  8. Characterizing A Novel Genetic Locus Associated With Familial Co-Occurrence of Thoracic Aortic Aneurysms and Intracranial Aneurysms

    Li, Alexander H2010

    … patients with mutations in the gene TGFBR2 and Marfan syndrome, shown by immunohistochemical detection of this protein.

    uthsc Repository record

  9. Investigating Medical Examiners' Practices: Genetic Evaluation For Fatal Acute Aortic Dissection

    Power, Bradley, <p>https://orcid.org/0000-0002-8557-5756</p>2021

    … cases of early-onset TAD, one with features of Marfan syndrome and another without, and a later onset TAD case. Sixty respondents reported their likelihood to complete various actions related to their level of suspicion for a genetic cause and recommendations for relatives (e.g. collect sample …

    uthsc Repository record

  10. The Role of IL-6 in Inflammatory Aortic Aneurysmal Diseases

    Ju, Xiaoxi 1984-The University of Texas Medical Branch at Galveston2016

    … model with spontaneous aortic aneurysms due to Marfan Syndrome (MFS) caused by Fbn-1 gene mutation (mgR homozygotes), we also reported elevated IL-6 signaling and increased macrophage recruitment in ascending aneurysmal tissues. To study the role of IL-6 signaling, we generated mgR homozygotes …

    utmb Repository record

  11. Spectrum Of Causes Of Isolated Aortic Regurgitation At A South African Public Sector Tertiary Care Institution

    Masikati, MalcolmDepartment of Medicine2023

    … affect the root and aorta included hypertension, Marfan' syndrome, syphilitic aortitis, Takayasu's arteritis; and pyogenic aortitis. Of the 141 patients in the study complete information on the pre-op echo, surgical macroscopic inspection and histological evaluation was available in 92. Of the 92 …

    cape-town Repository record

  12. Novel strategies to increase Sirtuin-1 activity in aortic aneurysm

    Liu, Hanxiao2022

    … strategy to prevent AA in individuals with Marfan syndrome and possibly other forms of AA.

    bu Repository record

  13. Magnetic Resonance Assessment of Aortic Stiffness in Diabetes and Cardiovascular Disease

    Cassidy, DeirdreUniversity of Dundee2014

    … both a healthy population and cohort with Marfan syndrome. This research is the first to use this technique in PVD and the only study to derive MS-PWV in this population. In summary, PWV was shown to change with both the extent and severity of atherosclerosis and CVD, which is agreement …

    dundee Repository record