Absence of cardiovascular manifestations in a haploinsufficient TGFBR1 mouse model [PDF]
Loeys-Dietz syndrome (LDS) is an autosomal dominant arterial aneurysm disease belonging to the spectrum of transforming growth factor beta (TGF beta)-associated vasculopathies. In its most typical form it is characterized by the presence of hypertelorism,
Callewaert, Bert +17 more
core +9 more sources
Pericellular colocalisation and interactive properties of type VI collagen and perlecan in the intervertebral disc [PDF]
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
Characterization of Microfibrillar-associated Protein 4 (MFAP4) as a Tropoelastin- and Fibrillin-binding Protein Involved in Elastic Fiber Formation [PDF]
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
P3.11 INCREASED CAROTID PLAQUE OCCURRENCE IN MEN WITH THE FIBRILLIN-1 2–3 GENOTYPE
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
Proteomic fingerprints of damage in extracellular matrix assemblies
In contrast to the dynamic intracellular environment, structural extracellular matrix (ECM) proteins with half-lives measured in decades, are susceptible to accumulating damage.
Alexander Eckersley +9 more
doaj +1 more source
Congenital ectopia lentis : diagnosis and treatment [PDF]
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
Extracellular recombinant proteins are commonly produced using HEK293 cells as histidine-tagged proteins facilitating purification by immobilized metal affinity chromatography (IMAC).
Jasvir Kaur, Dieter P Reinhardt
doaj +1 more source
IL‐4/IL‐13/STAT6 signaling plays a crucial for the suppression of pro‐inflammation during acute pancreatitis and supports acinar cell regeneration but has only minor impact on fibrogenesis during chronic form of the disease. IL‐4/IL‐13 induce the expression of certain collagens directly in pancreatic fibroblasts via STAT6 activation, whereas ...
ElSheikh H +13 more
wiley +1 more source
Sleep apnea and the impact on cardiovascular risk in patients with Marfan syndrome [PDF]
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
A novel mutation in FBN1 gene in autosomal dominant Marfan syndrome and macular degeneration in a Chinese consanguineous family [PDF]
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

