Results 31 to 40 of about 15,745 (181)

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

A personalized home-based exercise training program in children with Marfan and Loeys-Dietz syndromes improves aerobic exercise capacity and health-related quality of life

Orphanet Journal of Rare Diseases
Background Children and adolescents with Marfan (MFS) and Loeys-Dietz (LDS) syndromes report chronic fatigue and reduced physical endurance, which significantly impact their health-related quality of life (HRQoL). We hypothesized that a tailored physical
Thomas Edouard, Fernanda Bajanca, Clara Flumian, Fabrice Marion-Latard, Clément Pradayrol, Aitor Guitarte, Maud Langeois, Philippe Khau Van Kien, Armelle Yart, Françoise Auriol, Eric Garrigue, Yves Dulac   +11 more
doaj   +1 more source

Facial and Ocular Features of Marfan Syndrome

Diseases, 2014
Marfan syndrome is the most common inherited disorder of connective tissue affecting multiple organ systems. Identification of the facial, ocular and skeletal features should prompt referral for aortic imaging since sudden death by aortic dissection and ...
Juan C. Leoni, Juan M. Bowen, Heidi M. Connolly   +2 more
doaj   +1 more source

Can 10 000 Healthy Steps a Day Slow Aortic Root Dilation in Pediatric Patients With Marfan Syndrome?

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2022
Background Stiffer aortas are associated with a faster rate of aortic root (AoR) dilation and higher risk of aortic dissection in patients with Marfan syndrome.
Elif Seda Selamet Tierney, Sukyung Chung, Katie Jo Stauffer, Jerrid Brabender, Ronnie Thomad Collins, Robert Folk, Weidang Li, Ashlesh K. Murthy, Daniel Jerome Murphy, Mitra Esfandiarei   +9 more
doaj   +1 more source

Loss of POGLUT2/3‐mediated O‐glucosylation produces lung and aortic phenotypes reminiscent of fibrillin1 mutants

Developmental Dynamics, EarlyView.
Abstract Background Fibrillins provide a scaffold for elastic fiber formation, which enables lung recoil and aortic compliance. Abnormal fibrillin microfibrils, as in Marfan syndrome, lead to enlarged alveoli, vascular stiffening, and aneurysms. Our earlier studies suggested that fibrillin function depends on O‐glucosylation of its epidermal growth ...
Sanjiv Neupane, Angelina Almiroudis, Kaitlyn E. Donnelly, Robert S. Haltiwanger, Bernadette C. Holdener   +4 more
wiley   +1 more source

Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study

Orphanet Journal of Rare Diseases
Background This cross-sectional controlled study aims to assess health-related quality of life (HRQoL) of children and adolescents with a molecular diagnosis of Marfan syndrome (MFS) or related disorders and to evaluate the factors associated with HRQoL ...
Thomas Edouard, Marie-Christine Picot, Fernanda Bajanca, Helena Huguet, Aitor Guitarte, Maud Langeois, Bertrand Chesneau, Philippe Khau Van Kien, Eric Garrigue, Yves Dulac, Pascal Amedro   +10 more
doaj   +1 more source

The Marfan Syndrome

, 2017
Marfan syndrome is an autosomal dominant disorder of connective tissue in which abnormalities in the cardiovascular, skeletal, and ocular systems may be present to a highly variable degree. Marfan syndrome is caused by mutations in the FBN1 gene, which affect the structural integrity of the extracellular matrix and weaken the connective tissues ...
Franken, Romy, Mulder, Barbara J. M.
openaire   +1 more source

Single‐Cell Profiling Identifies CLEC5A+ Macrophages as Key Drivers of Thoracic Aortic Aneurysm Via CCL5‐Mediated M1 Polarization

Journal of Clinical Laboratory Analysis, EarlyView.
Thoracic aortic aneurysm (TAA) is a life‐threatening cardiovascular disease with limited therapeutic options. Through single‐cell RNA sequencing of aortic tissues from healthy individuals and TAA patients (105,541 cells), we identified CLEC5A+macrophages as the predominant pathogenic cell population exhibiting the highest M1 polarization score. Machine
Xiangyu Li, Chunguang Guo, Mingyao Luo, Chang Shu   +3 more
wiley   +1 more source

P3.4 PULSE WAVE REFLECTIONS AND THEIR DIURNAL CHANGES IN PATIENTS WITH MARFAN SYNDROME COMPARED TO HEALTHY CONTROLS

Artery Research, 2015
Introduction: Patients with Marfan syndrome may suffer from a variety of symptoms, including changes of the cardiovascular system. The aim of this study was to perform ambulatory 24 hour blood pressure and pulse wave measurements in a group of Marfan ...
Bernhard Hametner*, Matthias Hillebrand, Ghazaleh Nouri, Stephanie Parragh, Jelena Köster, Kai Mortensen, Achim Schwarz, Yskert von Kodolitsch, Siegfried Wassertheurer   +8 more
doaj   +1 more source

Molecular Functions and Drug Prediction of MMP1 and TGFBR2 in Nasopharyngeal Carcinoma

Journal of Clinical Laboratory Analysis, EarlyView.
MMP1 and TGFBR2 were validated by machine learning and external datasets as the candidate genes. Dexamethasone showed strong binding affinity to MMP1 (−7.72 kcal/mol) and TGFBR2 (−7.27 kcal/mol) in docking studies. Knockdown of MMP1 repressed the malignant phenotypes of NPC cells.
Feng Wang, Binbin Ge, Ming Li, Xiaochun Xia, Fuming Zhang, Pengqin Xu   +5 more
wiley   +1 more source