Results 31 to 40 of about 2,210,543 (259)

Targeted deletion of fibrillin-1 in the mouse eye results in ectopia lentis and other ocular phenotypes associated with Marfan syndrome

Disease Models & Mechanisms, 2019
Fibrillin is an evolutionarily ancient protein that lends elasticity and resiliency to a variety of tissues. In humans, mutations in fibrillin-1 cause Marfan and related syndromes, conditions in which the eye is often severely affected.
Wendell Jones, Juan Rodriguez, S. Bassnett   +2 more
semanticscholar   +1 more source

Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease

Expert Review of Cardiovascular Therapy, 2019
Introduction: The revised Ghent nosology presents the classical features of Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well-known features.
Y. von Kodolitsch, A. Demolder, E. Girdauskas, H. Kaemmerer, Katharina Kornhuber, L. Muiño Mosquera, S. Morris, E. Neptune, R. Pyeritz, S. Rand-Hendriksen, Alexander Rahman, N. Riise, L. Robert, I. Staufenbiel, K. Szöcs, T. T. Vanem, S. Linke, M. Vogler, A. Yetman, J. De Backer   +19 more
semanticscholar   +1 more source

Online Personal Training in Patients With Marfan Syndrome: A Randomized Controlled Study of Its Impact on Quality of Life and Physical Capacity

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Marfan syndrome (MFS) is a genetic disorder affecting the vascular and musculoskeletal systems. Limited knowledge exists regarding the exercise benefits for this population.
Steeve Jouini, Olivier Milleron, Ludivine Eliahou, Guillaume Jondeau, Damien Vitiello   +4 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

Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing

Scientific Reports, 2021
Marfan syndrome and related disorders are a group of heritable connective tissue disorders and share many clinical features that involve cardiovascular, skeletal, craniofacial, ocular, and cutaneous abnormalities.
Shalini S. Nayak, Pauline E. Schneeberger, Siddaramappa J. Patil, Karegowda M. Arun, Pujar V. Suresh, Viralam S. Kiran, Sateesh Siddaiah, Shreesha Maiya, Shrikanth K. Venkatachalagupta, Neethukrishna Kausthubham, Fanny Kortüm, Isabella Rau, Alexandra Wey-Fabrizius, Lotte Van Den Heuvel, Josephina Meester, Lut Van Laer, Anju Shukla, Bart Loeys, Katta M. Girisha, Kerstin Kutsche   +19 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

Oxytocin antagonism prevents pregnancy-associated aortic dissection in a mouse model of Marfan syndrome

Science Translational Medicine, 2019
Protection from pregnancy-associated aortic dissection is achieved by decreasing oxytocin-induced ERK signaling in a mouse model of Marfan syndrome. Dissecting a risk of Marfan syndrome Marfan syndrome is an autosomal dominant connective tissue disorder ...
J. Habashi, E. MacFarlane, Rustam Bagirzadeh, Caitlin J. Bowen, N. Huso, Yichun Chen, D. Bedja, Tyler J. Creamer, Graham Rykiel, M. Manning, D. Huso, H. Dietz   +11 more
semanticscholar   +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

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.

Annals of Cardiothoracic Surgery, 2017
Many different heritable connective tissue disorders (HCTD) have been described over the past decades. These syndromes often affect the connective tissue of various organ systems, including heart, blood vessels, skin, joints, bone, eyes, and lungs.
J. Meester, A. Verstraeten, D. Schepers, M. Alaerts, L. Van Laer, B. Loeys   +5 more
semanticscholar   +1 more source

A De Novo Missense MYLK Variant Leading to Nonsyndromic Thoracic Aortic Aneurysm and Dissection Identified by Segregation Analysis

Case Reports in Genetics
Nonsyndromic hereditary thoracic aortic aneurysm and dissection (TAAD) is an autosomal dominant disease; however, it is frequently difficult to identify the causative genes.
Daigo Nishijo, Hiroki Yagi, Nana Akiyama, Norifumi Takeda, Masahiko Ando, Haruo Yamauchi, Norihiko Takeda, Issei Komuro   +7 more
doaj   +1 more source