Results 11 to 20 of about 9,471 (216)

Identification of gross deletions in FBN1 gene by MLPA [PDF]

Human Genomics, 2018
Background Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene. Approximately 90% of classic MFS patients have a FBN1 mutation that can be identified by single-gene sequencing or gene-panel ...
Hang Yang, Yanyun Ma, Mingyao Luo, Kun Zhao, Yinhui Zhang, Guoyan Zhu, Xiaogang Sun, Fanyan Luo, Lin Wang, Chang Shu, Zhou Zhou   +10 more
doaj   +3 more sources

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, Katrina E. Kotzer, Susan A. Lagerstedt   +2 more
openalex   +3 more sources

Surgical management of non-syndromic ectopia lentis [PDF]

International Journal of Ophthalmology, 2020
AIM: To compare whether aphakic contact lenses or secondary iris-claw intraocular lenses are superior in the refractive management post-pars plana vitreolensectomy in a pedigree with an FBN1 mutation causing non-syndromic ectopia lentis (NSEL) with ...
Kirk AJ Stephenson, Michael O'Keefe, David J Keegan   +2 more
doaj   +1 more source

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

Case Report: A case of severe pulmonary hypertension combined with FBN1 mutation associated geleophysic dysplasia. [PDF]

Front Pediatr
Chen ZY, Cao Y, Yang J, He XH, Liu LP, Yuan YH.   +5 more
europepmc   +3 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
openaire   +8 more sources

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

Molecular cloning, characterization and 3D modelling of spotted snakehead fbn1 C-terminal region encoding asprosin and expression analysis of fbn1

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, Bhawna Chuphal, Umesh Rai, Brototi Roy   +3 more
openaire   +3 more sources

FBN1 contributing to familial congenital diaphragmatic hernia [PDF]

American Journal of Medical Genetics Part A, 2015
Congenital diaphragmatic hernia (CDH) is a relatively common, life‐threatening birth defect. We present a family with recurrent CDH—paraesophageal and central—for whom exome sequencing (ES) revealed a frameshift mutation (c.4969_4970insA, p.Ile1657Asnfs*30) in the fibrillin 1 gene (FBN1) that causes Marfan syndrome.
Tyler F, Beck, Philippe M, Campeau, Shalini N, Jhangiani, Tomasz, Gambin, Alexander H, Li, Reem, Abo-Zahrah, Valerie K, Jordan, Andres, Hernandez-Garcia, Wojciech K, Wiszniewski, Donna, Muzny, Richard A, Gibbs, Eric, Boerwinkle, James R, Lupski, Brendan, Lee, Willie, Reardon, Daryl A, Scott   +15 more
openaire   +2 more sources