Results 41 to 50 of about 9,183 (184)
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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Software and database for the analysis of mutations in the human FBN1 gene [PDF]
Nucleic Acids Research, 1996 Fibrillin is the major component of extracellular microfibrils. Mutations in the fibrillin gene on chromosome 15 (FBN1) were described at first in the heritable connective tissue disorder, Marfan syndrome (MFS). More recently, FBN1 has also been shown to harbor mutations related to a spectrum of conditions phenotypically related to MFS and many ...
Collod, Gwenaelle +4 more
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The extracellular matrix glycoprotein fibrillin-1 in health and disease
Frontiers in Cell and Developmental BiologyFibrillin-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
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Hsa_circ_0004674 promotes osteosarcoma doxorubicin resistance by regulating the miR-342-3p/FBN1 axis
Journal of Orthopaedic Surgery and Research, 2021 Background The occurrence of chemoresistance is a common problem in tumor treatment. Circular RNA (circRNA) has been confirmed to be related to tumor chemoresistance.
Yumei Bai +3 more
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Arthritis Care &Research, EarlyView.Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos +2 more
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Biochemistry and Biophysics ReportsFibrillin-1, an extracellular matrix protein encoded by the FBN1 gene, is crucial for maintaining connective tissue integrity. Mutations in FBN1 result in haploinsufficiency, leading to Marfan syndrome, in which the expression of functional FBN1 is ...
Rio Miyadai +7 more
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Disease Models & Mechanisms, 2018 Various clinical differences have been observed between patients with the FBN1 gene mutation and those with the classical Marfan phenotype. Although FBN1 knockout (KO) or dominant-negative mutant mice are widely used as an animal model for Marfan ...
Mao Chen +12 more
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Advanced Science, EarlyView.Liu et al. define a systems‐level interactome of fibroadipogenic progenitor (FAP)‐mediated signaling in skeletal muscle by integrating single‐cell transcriptomics with FAP depletion‐based perturbation analysis. Functional interrogation using a conditioned media bioassay links predicted signaling to multicellular outcomes, establishing a framework to ...
Xingyu Liu +13 more
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MiR-503 promotes wound healing of diabetic foot ulcer by targeting FBN1
Asian Pacific Journal of Tropical Medicine, 2018 Objective: To highlight the relationship between miR-503 and wound healing of diabetic foot ulcer (DFU). Methods: Microarray analysis was used to detect the dysregulated miRNAs between the DFU tissues and normal tissues.
Ming-Li Wang +6 more
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Adipocyte‐Derived Leptolin Enhances Energy Expenditure and Prevents Obesity
Advanced Science, EarlyView.We identified a novel adipokine, which we named leptolin. In humans, leptolin levels in white adipose tissue were positively correlated with exercise and negatively associated with body mass index. We observed elevated leptolin in serum from athletes and lower leptolin in serum from obese individuals.
Jiarui Liu +17 more
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