Results 41 to 50 of about 9,471 (216)
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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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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Role and significance of asprosin in feeding behaviour and metabolism
Кубанский научный медицинский вестник, 2020 This article presents a review of available information on asprosin — a hormone of white adipose tissue discovered in 2016. The history of its discovery, as well as its action mechanisms and main targets are examined.
Rustam H. Salimkhanov +4 more
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Advanced Healthcare Materials, EarlyView.We measure the cell‐specific responses of administering infusible ECM (iECM) in acute myocardial infarction (MI) across multiple timepoints. Using single‐nucleus RNA sequencing and spatial transcriptomics, we measure macrophage activation, fibroblast remodeling, increased vascular development, lymphangiogenesis, cardioprotection, and neurogenesis ...
Joshua M. Mesfin +18 more
wiley +1 more source
FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection [PDF]
Human Molecular Genetics, 2017 Mutations in FBN1 have been well identified in syndromic aortic dissection (AD) and familial thoracic aortic aneurysms and dissections. However, whether mutations of FBN1 contribute to sporadic non-syndromic AD and the characteristics of mutations remain unknown. Using next-generation-sequencing technology, FBN1 was sequenced in a total of 702 sporadic
Lun, Tan +8 more
openaire +2 more sources
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
doaj +1 more source
Caracterização genotípica de uma população de doentes portugueses com síndrome de Marfan
Revista Portuguesa de Cardiologia, 2011 Resumo: Introdução: O diagnóstico da Síndrome de Marfan (SM) depende fundamentalmente de uma avaliação clínica multidisciplinar. O seu diagnóstico molecular, através da identificação de mutações no gene FBN1, pode permitir estabelecer um diagnóstico ...
Ana Lebreiro +8 more
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Advanced Science, EarlyView.Solid predominant lung adenocarcinoma exhibits an immune‐excluded, ferroptosis‐resistant niche enriched with IL4I1⁺ TAMs and TDO2⁺ myCAFs. Spatial and multi‐omics analyses reveal AhR‐driven crosstalk that promotes T cell exhaustion and therapy resistance. Blocking AhR with CH‐223191 restores ferroptosis sensitivity, and its combination with ferroptosis
Zhaoxuan Wang +16 more
wiley +1 more source
Advanced Science, EarlyView.This study constructs a proteomic atlas of esophageal squamous cell carcinoma (ESCC) progression using esophageal biopsy samples. It identifies moderate dysplasia as the critical turning stage and a seven‐protein panel for early detection. Functionally, GBP6 loss promotes ESCC progression via cell cycle and epithelial‐mesenchymal transition (EMT ...
Xumiao Li +12 more
wiley +1 more source
A novel FBN1 mutation causes autosomal dominant Marfan syndrome
Molecular Medicine Reports, 2017 Marfan syndrome (MFS) is an inherited and systemic disorder. It has been reported that mutations in the fibrillin‑1 gene (FBN1) account for ~90% of autosomal dominant cases of MFS. This study was conducted to screen mutations of FBN1 in a Chinese family with autosomal dominant MFS; four individuals including two patients with MFS were recruited.
Xiao, Ying +6 more
openaire +3 more sources