Results 1 to 10 of about 9,126 (188)

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

Novel Generation-Skipping Inheritance Pattern of Marfan Syndrome Due to FBN1 Insertional Translocation: Diagnostic Utility of FISH and Implications for Genetic Counseling [PDF]

Case Reports in Genetics
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in the fibrillin-1 (FBN1) gene on Chromosome 15q21.1.
Breanna Beers, Hamilton Wexler, Gretchen MacCarrick   +2 more
doaj   +2 more sources

Comparison of Fibrillin-1 and Fibrillin-2 Gene Expression Level in Esophageal Squamous Cell Carcinoma Tumor Tissue and Tumor Margin Tissue [PDF]

Iranian Journal of Medical Sciences
Background: Esophageal cancer is one of the most devastating cancers of the gastrointestinal tract. We will compare the expression levels of fibrillin-1 (FBN1) and fibrillin-2 (FBN2), a family of extracellular matrix glycoproteins, in esophageal cancer ...
Mahsa Mahdizadeh, Marie Saghaeian Jazi, Seyyed Mostafa Mir, Seyyed Mehdi Jafari   +3 more
doaj   +2 more sources

Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature

Molecular Genetics & Genomic Medicine, 2023
Background Marfan syndrome (MFS) is a clinically heterogeneous hereditary connective tissue disorder. Severe cardiovascular manifestations (i.e., aortic aneurysm and dissection) are the most life‐threatening complications. Most of the cases are caused by
Bela Melegh, Judit Bene
exaly   +2 more sources

New Studies of the Aberrant Alterations in Fibrillin-1 Methylation During Colorectal Cancer Development

Frontiers in Oncology, 2022
BackgroundFibrillin-1 (FBN1) methylation risk from control to colorectal cancer (CRC), the variation regularities of FBN1 methylation, and DNA methyltransferase (DNMT) catalyzed with FBN1 methylation had not been reported yet; these were all studied in ...
Ling Lv, Jianzhong Ma, Lina Wu, Chao Zhang, Yueping Wang, Guang Wang   +5 more
doaj   +1 more source

CRISPR/Cas9 in zebrafish: An attractive model for FBN1 genetic defects in humans

Molecular Genetics & Genomic Medicine, 2021
Background Mutations in the fibrillin‐1 gene (FBN1) are associated with various heritable connective tissue disorders (HCTD). The most studied HCTD is Marfan syndrome. Ninety percent of Marfan syndrome is caused by mutations in the FBN1 gene.
Xiaoyun Yin, Jianxiu Hao, Yuanqing Yao
doaj   +1 more source

Narrowing of the neonatal region in the FBN1 gene [PDF]

European Heart Journal, 2021
Abstract Background Neonatal Marfan syndrome (MFS) is considered the most severe form of MFS and is characterized by early childhood death due to congestive heart failure. It has been suggested that genetic variants associated with this clinical presentation, cluster in a specific region between exons
M N Brogger, G Fernandez Ferro, I Cardenas Reyes, J P Ochoa, S Garcia Hernandez, M Valverde, X Fernandez, D Garcia Giustiniani, A Lamounier, L De La Higuera Romero, M Ortiz Genga, L Monserrat, W J McKenna   +12 more
openaire   +1 more source

Mutation analysis of FBN1 gene in two Chinese families with congenital ectopia lentis in northern China [PDF]

International Journal of Ophthalmology, 2019
AIM: To summarize the phenotypes and identify the underlying genetic cause of the fibrillin-1 (FBN1) gene responsible for congenital ectopia lentis (EL) in two Chinese families in northern China. METHODS: A detailed family history and clinical data from
Su-Zhen Tang, Ya-Ning Liu, Shao-Hua Hu, Hao Chen, Hui Zhao, Xue-Mei Feng, Xiao-Jing Pan, Peng Chen   +7 more
doaj   +1 more source

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