Results 11 to 20 of about 9,183 (184)

No differences in FBN1 genotype between men with and without abdominal aortic aneurysm

BMC Cardiovascular Disorders, 2023
Background Abdominal aortic aneurysm (AAA) is an aortic enlargement in which the transverse diameter reaches at least 30 mm. Certain risk factors, such as age, male gender, and smoking, are well known; however, less is known about the genetic factors ...
Ida Åström Malm, Rachel De Basso, Peter Blomstrand   +2 more
doaj   +1 more source

A novel missense mutation in the TGF-β-binding protein-like domain 3 of FBN1 causes Weill–Marchesani syndrome with intellectual disability

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, Sara Taghizadeh, Anahita Farahzad Broujeni, Mahvash Habibi, Setareh Banitalebi, Mahbubeh Kasiri, Alireza Sadeghi, Ahoura Nozari   +7 more
doaj   +1 more source

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
openaire   +4 more sources

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, Momotoshi Shiga, Kaori Kometani-Gunjigake, Kayoko Nakao-Kuroishi, Masahiro Mizuhara, Takashi Toyono, Yuji Seta, Tatsuo Kawamoto   +7 more
doaj   +1 more source

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., Hamel, B.C., Verheij, J.B.G.M., Rijlaarsdam, M.E.B., Mancini, G.M.S., Cobben, J.M., Giroth, C., Ruivenkamp, C.A.L., Hansson, K.B.M., Timmermans, J., Moll, H.A., Breuning, M.H., Pals, G.   +12 more
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Update of the UMD-FBN1mutation database and creation of anFBN1polymorphism database

Human Mutation, 2003
Fibrillin is the major component of extracellular microfibrils. Mutations in the fibrillin gene on chromosome 15 (FBN1) were first described in the heritable connective disorder, Marfan syndrome (MFS). FBN1 has also been shown to harbor mutations related to a spectrum of conditions phenotypically related to MFS, called "type-1 fibrillinopathies." In ...
Collod-Béroud, Gwenaëlle, Le Bourdelles, Saga, Adès, Lesley C, Ala-Kokko, Leena, Booms, Patrick, Boxer, Maureen, Child, Anne, Comeglio, Paolo, De Paepe, Anne, Hyland, James C, Holman, Katerine, Kaitila, Ilkka, Loeys, Bart, Matyas, Gabor, Nuytinck, Lieve, Peltonen, Leena, Rantamaki, Terhi, Robinson, Peter N, Steinmann, Beat, Junien, Claudine, Béroud, Christophe, Boileau, Catherine   +21 more
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The Fibrillin‐1/VEGFR2/STAT2 signaling axis promotes chemoresistance via modulating glycolysis and angiogenesis in ovarian cancer organoids and cells

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, Wei Chen, Ling Zuo, Midie Xu, Yong Wu, Jiami Huang, Xu Zhang, Yongheng Li, Jing Wang, Jing Chen, Husheng Wang, Huizhen Sun   +11 more
doaj   +1 more source

A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome [PDF]

BioMed Research International, 2018
Marfan syndrome (MFS) is an autosomal dominantly inherited connective tissue disorder, mostly caused by mutations in the fibrillin-1 (FBN1) gene. We, by using targeted next-generation sequence analysis, identified a novel intronic FBN1 mutation (the c.2678-15C>A variant) in a MFS patient with aortic dilatation.
Mario Torrado, Emilia Maneiro, Juan Pablo Trujillo-Quintero, Arturo Evangelista, Alexander T. Mikhailov, Lorenzo Monserrat   +5 more
openaire   +3 more sources

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
openaire   +2 more sources

Genetically engineered animal models for Marfan syndrome: challenges associated with the generation of pig models for diseases caused by haploinsufficiency

The Journal of Reproduction and Development, 2022
Recent developments in reproductive biology have enabled the generation of genetically engineered pigs as models for inherited human diseases. Although a variety of such models for monogenic diseases are currently available, reproduction of human ...
Naomi JACK, Tomoyuki MUTO, Keigo IEMITSU, Tamaki WATANABE, Kazuhiro UMEYAMA, Jun OHGANE, Hiroshi NAGASHIMA   +6 more
doaj   +1 more source