Genetic Association of Primary Angle‐Closure Glaucoma and Disease Progression
Clinical &Experimental Ophthalmology, EarlyView.ABSTRACT Background To investigate single‐nucleotide polymorphisms (SNPs) reported in the largest up‐to‐date systematic review and meta‐analysis on primary angle‐closure disease (PACD), on their associations with primary angle‐closure glaucoma (PACG) and disease progression.
Yu Jing Liang +6 more
wiley +1 more source
Frontiers in Cardiovascular Medicine, 2021 Medial deterioration leading to thoracic aortic aneurysms arises from multiple causes, chief among them mutations to the gene that encodes fibrillin-1 and leads to Marfan syndrome.
Cristina Cavinato +7 more
doaj +1 more source
The tight skin mouse: demonstration of mutant fibrillin-1 production and assembly into abnormal microfibrils [PDF]
, 1993 Mice carrying the Tight skin (Tsk) mutation harbor a genomic duplication within the fibrillin-1 (Fbn 1) gene that results in a larger than normal in-frame Fbn 1 transcript.
Jimenez, Sergio A. +6 more
core +1 more source
An iPSC-derived vascular model of Marfan syndrome identifies key mediators of smooth muscle cell death. [PDF]
, 2016 Marfan syndrome (MFS) is a heritable connective tissue disorder caused by mutations in FBN1, which encodes the extracellular matrix protein fibrillin-1.
Bernard, William George +6 more
core +1 more source
Dill extract induces elastic fiber neosynthesis and functional improvement in the ascending aorta of aged mice with reversal of age-dependent cardiac hypertrophy and involvement of lysyl oxidase-like-1 [PDF]
, 2020 Elastic fibers (90% elastin, 10% fibrillin-rich microfibrils) are synthesized only in early life and adolescence mainly by the vascular smooth muscle cells through the cross-linking of its soluble precursor, tropoelastin.
Boyle, Walter A +7 more
core +3 more sources
Aortic Strain Correlates With Elastin Fragmentation in Fibrillin-1 Hypomorphic Mice
Circulation Reports, 2019 Background: High-frequency ultrasound has facilitated in vivo measurement of murine ascending aorta, allowing aortic strain to be determined from 2-D imaging.
Jeff Z. Chen +5 more
semanticscholar +1 more source
Clinical Genetics, EarlyView.Early‐onset Marfan syndrome (eoMFS) is a rare disorder with atrioventricular valve insufficiency being the most severe symptom. We propose to regard eoMFS as a spectrum, ranging from a severe disorder life‐threatening already before or immediately after birth, to a disorder with a better survival rate, creating a window for atrioventricular valve ...
Eva C. van der Leest +12 more
wiley +1 more source
Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia: A novel mouse model providing insights on geleophysic dysplasia [PDF]
, 2015 Mutations in the secreted glycoprotein ADAMTSL2 cause recessive geleophysic dysplasia (GD) in humans and Musladin–Lueke syndrome (MLS) in dogs. GD is a severe, often lethal, condition presenting with short stature, brachydactyly, stiff skin, joint ...
Apte, Suneel S. +4 more
core +2 more sources
Structural and compositional diversity of fibrillin microfibrils in human tissues
Journal of Biological Chemistry, 2018 Elastic fibers comprising fibrillin microfibrils and elastin are present in many tissues, including the skin, lungs, and arteries, where they confer elasticity and resilience.
A. Eckersley +8 more
semanticscholar +1 more source
International Journal of Dermatology, EarlyView.ABSTRACT Background According to morphological and clinical differences, atrophic (AP) and hypertrophic (HP) skin photoaging types have been reported. The current study examines the correlation between optical coherence tomography (OCT) and dynamic‐OCT (D‐OCT) features in subjects with skin photoaging types classified as AP, HP, or controls ...
Stefania Guida +16 more
wiley +1 more source