Frontiers in Aging Neuroscience, 2016 Tendons among connective tissue, mainly collagen, contain also elastic fibres made of fibrillin 1, fibrillin 2 and elastin that are broadly distributed in tendons and represent 1-2% of the dried mass of the tendon.
Betti Giusti, Guglielmina Pepe
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Elastic fiber assembly is disrupted by excessive accumulation of chondroitin sulfate in the human dermal fibrotic disease, keloid [PDF]
, 2009 Keloid is a fibrotic disease characterized by abnormal accumulation of extracellular matrix in the dermis. The keloid matrix contains excess collagen and glycosaminoglycans (GAGs), but lacks elastic fiber. However, the roles of these matrix components in
Ikeda, Mika +10 more
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Extracellular matrix and vascular dynamics in the kidney of a murine model for Marfan syndrome.
PLoS ONE, 2023 Fibrillin-1 is a pivotal structural component of the kidney's glomerulus and peritubular tissue. Mutations in the fibrillin-1 gene result in Marfan syndrome (MFS), an autosomal dominant disease of the connective tissue.
Rodrigo Barbosa de Souza +8 more
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The evolution of extracellular fibrillins and their functional domains.
PLoS ONE, 2012 Fibrillins constitute the major backbone of multifunctional microfibrils in elastic and non-elastic extracellular matrices, and are known to interact with several binding partners including tropoelastin and integrins.
Adam Piha-Gossack +2 more
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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
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Disease Models & Mechanisms, 2019 Fibrillin is an evolutionarily ancient protein that lends elasticity and resiliency to a variety of tissues. In humans, mutations in fibrillin-1 cause Marfan and related syndromes, conditions in which the eye is often severely affected.
Wendell Jones +2 more
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A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation. [PDF]
, 1996 Mice carrying the Tight skin (Tsk) mutation have thickened skin and visceral fibrosis resulting from an accumulation of extracellular matrix molecules.
Buchberg, Arthur M. +7 more
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BMC Musculoskeletal Disorders, 2022 Background Fibrillin-1 (FBN1) is an extracellular matrix glycoprotein essential to the structural component of microfibrils and FBN1 gene polymorphisms can be associated with adolescent idiopathic scoliosis (AIS) susceptibility.
Gustavo Borges Laurindo de Azevedo +6 more
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Abnormal Activation of BMP Signaling Causes Myopathy in Fbn2 Null Mice. [PDF]
PLoS Genetics, 2015 Fibrillins are large extracellular macromolecules that polymerize to form the backbone structure of connective tissue microfibrils. Mutations in the gene for fibrillin-1 cause the Marfan syndrome, while mutations in the gene for fibrillin-2 cause ...
Gerhard Sengle +8 more
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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 +2 more
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