Results 41 to 50 of about 30,022 (221)

Angiotensin II type 1 receptor antagonists alleviate muscle pathology in the mouse model for laminin-alpha2-deficient congenital muscular dystrophy (MDC1A) [PDF]

, 2012
BACKGROUND: Laminin-alpha2-deficient congenital muscular dystrophy (MDC1A) is a severe muscle-wasting disease for which no curative treatment is available.
Lin, Shuo, Meinen, Sarina, Ruegg, Markus A.   +2 more
core   +1 more source

Twenty years' follow-up of a family with Marfan syndrome: A case series

Heart Views, 2021
Marfan syndrome is a rare connective tissue disorder manifesting with cardiovascular pathologies which are also the leading cause of death. Herein, we present the past 20 years follow up of a family with 17 members afflicted with Marfan syndrome.
Niloufar Valizadeh, Niloofar Rafatpanah, Farbod Hatami, Mohammad Hossein Davari, Toba Kazemi   +4 more
doaj   +1 more source

Comorbidities Associated with Large Abdominal Aortic Aneurysms [PDF]

, 2019
BACKGROUND: Abdominal aortic aneurysm has become increasingly important owing to demographic changes. Some other diseases, for example, cholecystolithiasis, chronic obstructive pulmonary disease, and hernias, seem to co-occur with abdominal aortic ...
Althoff, Christian E., Greiner, Andreas, Hinterseher, Irene, Kuivaniemi, Helena, Miszczuk, Milena, Müller, Verena, Stroux, Andrea   +6 more
core   +1 more source

Like Father, Like Daughter—inherited cutis aplasia occurring in a family with Marfan syndrome: a case report

Clinical Case Reports, 2017
Key Clinical Message We present the case of a newborn with co‐occurrence of Marfan syndrome and aplasia cutis congenita (ACC) and a family history significant for Marfan syndrome and ACC in the father.
Yasmin Florence Khodeja Islam, Charles A. Williams, Jennifer Jane Schoch, Israel David Andrews   +3 more
doaj   +1 more source

Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome

Global Medical Genetics, 2020
Marfan syndrome is an autosomal dominant disease affecting connective tissue involving the ocular, skeletal systems with a prevalence of 1/5,000 to 1/10,000 cases.
Sinem Yalcintepe, Selma Demir, Emine Ikbal Atli, Murat Deveci, Engin Atli, Hakan Gurkan   +5 more
doaj   +1 more source

The role of epidermal growth factor-like module containing mucin-like hormone receptor 2 in human cancers. [PDF]

, 2014
G-protein coupled receptors (GPCRs) are among the most diverse and ubiquitous proteins in all of biology. The epidermal growth factor-seven span transmembrane (EGF-TM7) subfamily of adhesion GPCRs is a small subset whose members are mainly expressed on ...
Bloch, Orin, Ivan, Michael E, Kaur, Gurvinder, Oh, Michael C, Oh, Taemin, Parsa, Andrew T, Safaee, Michael, Sayegh, Eli T, Sun, Matthew Z   +8 more
core   +2 more sources

Fluid dynamics of aortic root dilation in Marfan syndrome

, 2014
Aortic root dilation and propensity to dissection are typical manifestations of the Marfan Syndrome (MS), a genetic defect leading to the degeneration of the elastic fibres. Dilation affects the structure of the flow and, in turn, altered flow may play a
Costantini, Martina, Espa, Stefania, Fortini, Stefania, Querzoli, Giorgio, Sorgini, Francesca   +4 more
core   +1 more source

Replacing vascular corrosion casting by in-vivo micro-CT imaging for building 3D cardiovascular models in mice [PDF]

, 2011
The purpose of this study was to investigate if in vivo micro-computed tomography (CT) is a reliable alternative to micro-CT scanning of a vascular corrosion cast. This would allow one to study the early development of cardiovascular diseases.
Casteleyn, Christophe, Loeys, Bart, Renard, Marjolijn, Segers, Patrick, Staelens, Steven, Trachet, Bram, Vandeghinste, Bert, Vandenberghe, Stefaan   +7 more
core   +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

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