Sex specific knee joint soft tissue mineralization with fibrillin-1 mutation in male tight skin mice [PDF]
European Cells & MaterialsBackground: Articular soft tissue mineralization and ossification are clear pathological signs of osteoarthritis (OA) joints. However their molecular and cellular aetiologies remain largely unknown.
C Keenan +8 more
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Fibrillin-1 Regulates Arteriole Integrity in the Retina [PDF]
Biomolecules, 2022 Fibrillin-1 is an extracellular matrix protein that assembles into microfibrils that provide critical functions in large blood vessels and other tissues.
Florian Alonso +4 more
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Case report: Biochemical and clinical phenotypes caused by cysteine substitutions in the epidermal growth factor-like domains of fibrillin-1 [PDF]
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
doaj +2 more sources
The extracellular matrix glycoprotein fibrillin-1 in health and disease [PDF]
Frontiers in Cell and Developmental Biology, 2023 Fibrillin-1 (FBN1) is a large, cysteine-rich, calcium binding extracellular matrix glycoprotein encoded by FBN1 gene. It serves as a structural component of microfibrils and provides force-bearing mechanical support in elastic and nonelastic connective ...
Li Li +5 more
doaj +2 more sources
Comparison of Fibrillin-1 and Fibrillin-2 Gene Expression Level in Esophageal Squamous Cell Carcinoma Tumor Tissue and Tumor Margin Tissue [PDF]
Iranian Journal of Medical SciencesBackground: Esophageal cancer is one of the most devastating cancers of the gastrointestinal tract. We will compare the expression levels of fibrillin-1 (FBN1) and fibrillin-2 (FBN2), a family of extracellular matrix glycoproteins, in esophageal cancer ...
Mahsa Mahdizadeh +3 more
doaj +2 more sources
Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias [PDF]
Frontiers in Genetics, 2021 The term “fibrillinopathies” gathers various diseases with a wide spectrum of clinical features and severity but all share mutations in the fibrillin genes.
Pauline Arnaud +5 more
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Aqueous humor TGFβ and fibrillin-1 in Tsk mice reveal clues to POAG pathogenesis [PDF]
Scientific ReportsAqueous humor (AH) and blood levels of transforming growth factor β (TGFβ) are elevated in idiopathic primary open angle glaucoma (POAG) representing a disease biomarker of unclear status and function.
James C. Tan +4 more
doaj +2 more sources
Fibrillin-1 regulates periostin expression during maintenance of periodontal homeostasis [PDF]
Journal of Dental Sciences, 2022 Background/purpose: Human periodontal ligament consists of elastic system fibers, mainly fibrillin-1 (FBN1). Periostin (POSTN) maintains periodontal homeostasis.
Yoshikazu Manabe +7 more
doaj +2 more sources
Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines. [PDF]
Ann Lab Med, 2023 Kim SW, Kim B, Kim Y, Lee KA.
europepmc +3 more sources
The influence of fibrillin‐1 and physical activity upon tendon tissue morphology and mechanical properties in mice [PDF]
Physiological Reports, 2019 Fibrillin‐1 mutations cause pathological changes in connective tissue that constitute the complex phenotype of Marfan syndrome. In this study, we used fibrillin‐1 hypomorphic and haploinsufficient mice (Fbn1mgr/mgR and Fbn1+/− mice, respectively) to ...
Peter H. T. Tran +9 more
doaj +2 more sources