Results 121 to 130 of about 22,293 (293)
Fibrillin-3 expression in human development [PDF]
Matrix Biology, 2011 Fibrillin proteins are the major components of extracellular microfibrils found in many connective tissues. Fibrillin-1 and fibrillin-2 are well studied and mutations in these proteins cause a number of fibrillinopathies including Marfan syndrome and congenital contractural arachnodactyly, respectively.
Sabatier, Laetitia +5 more
openaire +4 more sources
DNA DIAGNOSTICS AND MUTATION SPECTRUM OF THE GENE FBN1 IN MARFAN’S SYNDROME
Российский кардиологический журнал, 2015 Aim. The development of an optimal protocol for diagnostic search for mutations with the use of the new generation sequencing technique (NGS) and evaluation of the mutation spectrum in Russian selection of the patients with Marfan syndrome.Material and ...
Yu. A. Rogozhina +3 more
doaj +1 more source
The role of epidermal growth factor-like module containing mucin-like hormone receptor 2 in human cancers. [PDF]
, 2014 G-protein coupled receptors (GPCRs) are among the most diverse and ubiquitous proteins in all of biology. The epidermal growth factor-seven span transmembrane (EGF-TM7) subfamily of adhesion GPCRs is a small subset whose members are mainly expressed on ...
Bloch, Orin +8 more
core +2 more sources
Assessment of Bones Deficient in Fibrillin-1 Microfibrils Reveals Pronounced Sex Differences
International Journal of Molecular Sciences, 2019 Defects in the extracellular matrix protein fibrillin-1 that perturb transforming growth factor beta (TGFβ) bioavailability lead to Marfan syndrome (MFS).
Lukas Altinbas +8 more
semanticscholar +1 more source
Journal of Cosmetic Dermatology, Volume 24, Issue 5, May 2025.ABSTRACT Background The accumulation of advanced glycation end products (AGEs) in aged skin and their pro‐aging effects suggest the potential application of anti‐glycation ingredients as skin anti‐aging agents. Aims This study evaluated the anti‐aging efficacy of a newly developed anti‐glycation ingredient with antioxidant and autophagy‐stimulating ...
Kayoung Shin +7 more
wiley +1 more source
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
doaj +1 more source
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
semanticscholar +1 more source
The FASEB Journal, Volume 39, Issue 7, 15 April 2025.Molecular mechanisms in cell‐associated elastic fiber assembly. Abstract Elastogenesis is a cell surface‐located hierarchical process that requires the core components tropoelastin and fibrillins and several accessory proteins, including fibulin‐4 (FBLN4) and latent TGF‐β binding protein‐4 (LTBP4).
Hana Hakami +5 more
wiley +1 more source
Persistent great artery dilatation in Beals syndrome: A novel finding
Annals of Pediatric Cardiology, 2019 We report a unique case of dilated aortic root and pulmonary artery in an infant with clinical features consistent with Beals syndrome confirmed to have fibrillin-2 mutation.
Saira Siddiqui, Laurie Panesar
doaj +1 more source
Preoperative Skin Conditioning: Extracellular Matrix Clearance and Skin Bed Preparation, A New Paradigm. [PDF]
, 2019 This paper introduces the concept of "skin bed preparation" prior to surgical procedures. Following the theory of chronic wound bed preparation and adapting the skin model to one of chronic wound changes related to extrinsic and intrinsic factors, a ...
Cohen, Steven R +2 more
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