P3.11 INCREASED CAROTID PLAQUE OCCURRENCE IN MEN WITH THE FIBRILLIN-1 2–3 GENOTYPE
Artery Research, 2009 Background: Fibrillin-1 is an important constituent of the vascular wall and earlier studies have indicated an effect of the fibrillin-1 2–3 genotype on blood pressure as well as aortic stiffness.
R. DeBasso +4 more
doaj +1 more source
Characterization of Microfibrillar-associated Protein 4 (MFAP4) as a Tropoelastin- and Fibrillin-binding Protein Involved in Elastic Fiber Formation [PDF]
, 2015 MFAP4 (microfibrillar-associated protein 4) is an extracellular glycoprotein found in elastic fibers without a clearly defined role in elastic fiber assembly.
Heumüller, Stefanie E +11 more
core +1 more source
Scientific Reports, 2020 Fibrillin-1 (FBN1) is responsible for haploinsufficient and autosomal dominant Marfan syndrome. Even in the same Marfan pedigree, penetrance and expressivity in heterozygous individuals can differ and result in variable disease onset and severity.
Yoshikazu Arai +6 more
semanticscholar +1 more source
A novel mutation in FBN1 gene in autosomal dominant Marfan syndrome and macular degeneration in a Chinese consanguineous family [PDF]
International Journal of Ophthalmology, 2019 AIM: To report a novel mutation in FBN1 gene in a Chinese consanguineous family with common Marfan syndrome (MFS) phenotype and an unusual bilateral macular degeneration.
Ping-Bo Ouyang +5 more
doaj +1 more source
Congenital ectopia lentis : diagnosis and treatment [PDF]
, 2012 Congenital ectopia lentis (EL) is an ocular condition, which typically causes a high grade of refractive errors, mainly myopia and astigmatism. These might be difficult to compensate for, especially in children, who might develop ametropic amblyopia ...
Rysä Konradsen, Tiina
core +1 more source
The Anatomical Record, 2020 Immunolocalization studies have shown that fibrillin‐1 is distributed ubiquitously in the connective tissue space from early embryonic times through old age.
N. Charbonneau +6 more
semanticscholar +1 more source
Annuloaortic ectasia in a dog: long-term follow-up and immunofluorescent study
Veterinary Quarterly, 2021 A 4 month-old, 14.8 kg, male Newfoundland dog was presented for cardiovascular evaluation following detection of a heart murmur. Echocardiography revealed enlargement of the sinuses of Valsalva and marked, diffuse dilation of the ascending aorta ...
Etienne Côté +4 more
doaj +1 more source
Pericellular colocalisation and interactive properties of type VI collagen and perlecan in the intervertebral disc [PDF]
, 2016 The aim of this study was to immunolocalise type VI collagen and perlecan and determine their interactive properties in the intervertebral disc (IVD).
AJ Hayes +6 more
core +3 more sources
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
Sleep apnea and the impact on cardiovascular risk in patients with Marfan syndrome [PDF]
, 2019 Background: Marfan syndrome (MFS) is an inherited connective tissue disorder characterized by ectopia lentis, aortic root dilation and dissection and specific skeletal features.
Bauters, Fré +8 more
core +1 more source