Results 21 to 30 of about 10,344 (220)
Advanced Biomedical Research, 2023 Background: Weill–Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by locus heterogeneity and variable expressivity. Patients suffering from WMS are described by short stature, brachydactyly, joint stiffness, congenital heart ...
Mahdieh Hassani +7 more
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Identification of Pathological FBN1 Variants Is Not Straightforward [PDF]
Circulation: Genomic and Precision Medicine, 2018 See Article by Muino-Mosquera et al The ability to identify DNA variants that are pathogenic forms the basis for unbiased characterization of inherited diseases. Improved access to genetic testing and the increasing clinical use of whole exome and whole genome sequencing have identified variants of uncertain pathogenicity often associated with an ...
West, Malcolm, Summers, Kim
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Fibrillin-1 regulates periostin expression during maintenance of periodontal homeostasis
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
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The clinical spectrum of complete FBN1 allele deletions [PDF]
European Journal of Human Genetics, 2010 The most common mutations found in FBN1 are missense mutations (56%), mainly substituting or creating a cysteine in a cbEGF domain. Other mutations are frameshift, splice and nonsense mutations. There are only a few reports of patients with marfanoid features and a molecularly proven complete deletion of a FBN1 allele. We describe the clinical features
Hilhorst-Hofstee, Y. +12 more
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Cancer Communications, 2022 Background Chemotherapy resistance is a primary reason of ovarian cancer therapy failure; hence it is important to investigate the underlying mechanisms of chemotherapy resistance and develop novel potential therapeutic targets. Methods RNA sequencing of
Ziliang Wang +11 more
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Interpretation of sequence variants of the FBN1 gene: analog or digital? A commentary on decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants [PDF]
Journal of Human Genetics, 2015 Interpretation of sequence variants of the FBN1 gene: analog or digital? A commentary on decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 ...
Yskert, von Kodolitsch, Kerstin, Kutsche
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Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants [PDF]
Journal of Human Genetics, 2015 The diagnosis of Marfan syndrome (MFS) remains challenging despite the 2010 revision to Ghent nosology criteria, and there is a lack of published information regarding FBN1 genotype associations in patients since the update in Ghent criteria. Applying revised Ghent criteria, we reviewed consecutive proband cases (n=292) submitted for FBN1 sequencing ...
Linnea M, Baudhuin +2 more
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Molecular analysis of eight mutations in FBN1
Human Genetics, 1999 Mutations in the gene encoding extracellular glycoprotein fibrillin-1 (FBN1) cause Marfan syndrome (MFS) and other related connective tissue disorders. In this study, eight mutations have been detected in MFS patients by heteroduplex analysis. These comprise two missense mutations, C1835Y and C2258Y in calcium-binding epidermal growth factor-like ...
Halliday, D +5 more
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Scientific Reports, 2023 AbstractThe FBN1 gene encodes profibrillin protein that is cleaved by the enzyme furin to release fibrillin-1 and a glucogenic hormone, asprosin. Asprosin is implicated in diverse metabolic functions as well as pathological conditions in mammals. However, till date, there are no studies on asprosin in any non-mammalian vertebrate.
Priyanka Sathoria +3 more
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