Results 31 to 40 of about 1,871 (159)
Frontiers in Genetics, 2022 Marfan syndrome, an autosomal dominant disorder of connective tissue, is primarily caused by mutations in the fibrillin-1 (FBN1) gene, which encodes the protein fibrillin-1.
Xin Liu +6 more
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Functional Analysis of an Intronic FBN1 Pathogenic Gene Variant in a Family With Marfan Syndrome
Frontiers in Genetics, 2022 Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder that canonically affects the ocular, skeletal, and cardiovascular system, in which aortic tear and rupture is the leading cause of death for MFS patients.
Kui Hu +13 more
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Cosmetics, 2022 Aminocarbonyl proteins increase with age in the dermal layer. Gene Chip analysis of mRNA expression in human dermal fibroblasts cultured on collagen gels treated with glyceraldehyde as an aminocarbonyl protein and on untreated collagen gels showed a ...
Kazuhisa Maeda, Shiori Yoshida
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POGLUT2 and POGLUT3 O-glucosylate multiple EGF repeats in fibrillin-1, -2, and LTBP1 and promote secretion of fibrillin-1 [PDF]
Journal of Biological Chemistry, 2021 Fibrillin-1 (FBN1) is the major component of extracellular matrix microfibrils, which are required for proper development of elastic tissues, including the heart and lungs. Through protein-protein interactions with latent transforming growth factor (TGF) β-binding protein 1 (LTBP1), microfibrils regulate TGF-β signaling.
Daniel B. Williamson +3 more
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Immunohistochemical expression of fibrillin-1 and fibrillin-2 during tooth development. [PDF]
, 2015 福岡歯科大学博士（歯学）2014年度BACKGROUND AND OBJECTIVE: Oxytalan fibers are categorized as a microfibril assembly without elastin deposition, and are unique components in the periodontal ligament (PDL).
Oka, Kyoko +4 more
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Stem Cell Research, 2023 Marfan syndrome is an autosomal dominant genetic disorder resulting from pathogenic variants in FBN1 gene. FBN1 encodes for fibrillin-1, an important extracellular matrix protein.
Jeffrey Aalders +7 more
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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
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"Computational Analysis of the Effect of fbn1 Gene Mutations in the Marfan Syndrome" [PDF]
Iranian Journal of Public Health, 2004 Fibrillin is a large glycoprotein synthesized in the tissues involved in Marfan syndrome, and known to be involved in tissue elasticity. The syndrome is corresponded to fbn1 gene and is characterized by cardiovascular, ocular, and skeletal abnormalities.
H Mohabatkar
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Interaction of Tropoelastin with the Amino-terminal Domains of Fibrillin-1 and Fibrillin-2 Suggests a Role for the Fibrillins in Elastic Fiber Assembly [PDF]
Journal of Biological Chemistry, 2000 Alignment of tropoelastin molecules during the process of elastogenesis is thought to require fibrillin-containing microfibrils. In this study, we have demonstrated that amino-terminal domains of two microfibrillar proteins, fibrillin-1 and fibrillin-2, interact with tropoelastin in solid phase binding assays.
T M, Trask +5 more
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BMC Cardiovascular Disorders, 2020 Background Elderly patients have a relatively high cardiovascular risk due to increased arterial stiffness, elevated blood pressure and decreased amounts of elastin in the arteries.
Ida Åström Malm +4 more
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