Results 1 to 10 of about 9,421 (169)

Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome [PDF]

Global Medical Genetics, 2020
Marfan syndrome is an autosomal dominant disease affecting connective tissue involving the ocular, skeletal systems with a prevalence of 1/5,000 to 1/10,000 cases.
Sinem Yalcintepe, Selma Demir, Emine Ikbal Atli, Murat Deveci, Engin Atli, Hakan Gurkan   +5 more
doaj   +2 more sources

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   +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

Datasets of genes coexpressed with FBN1 in mouse adipose tissue and during human adipogenesis

Data in Brief, 2016
This article contains data related to the research article entitled “Expression of FBN1 during adipogenesis: relevance to the lipodystrophy phenotype in Marfan syndrome and related conditions” [1].
Margaret R. Davis, Erik Arner, Cairnan R.E. Duffy, Paul A. De Sousa, Ingrid Dahlman, Peter Arner, Kim M. Summers   +6 more
doaj   +2 more sources

Association of polymorphisms in FBN1, MYH11, and TGF-β signaling-related genes with susceptibility of sporadic thoracic aortic aneurysm and dissection in the Zhejiang Han population

Open Medicine
Sporadic thoracic aortic aneurysm and dissection (sTAAD) is a complicated vascular disease with a high mortality rate. And its genetic basis has not been fully explored.
Yu Shasha, Huang Lujie, Ren Jianfei, Zhang Xiaoying   +3 more
doaj   +2 more sources

Identification and functional validation of a novel FBN1 variant in a Marfan syndrome family using a zebrafish model [PDF]

BMC Genomics
Background Marfan syndrome (MFS) is an inherited autosomal dominant disorder that affects connective tissue with an incidence of about 1 in 5,000 to 10,000 people. 90% of MFS is caused by mutations in the fibrillin-1 (FBN1) gene.
Shitong Huang, Jiansong Chen, Qiuyu Wang, Ruyue Zhang, Jian Zhuang, Ruiyuan Huang, Changjiang Yu, Miaoxian Fang, Haishan Zhao, Liming Lei   +9 more
doaj   +2 more sources

Case Report: FBN1 mutation screening in South African patients with Marfan syndrome [PDF]

Frontiers in Genetics
Marfan syndrome (MFS) is a systemic heritable connective tissue disorder caused by pathogenic variants in the FBN1 gene. Previous studies have documented the clinical utility of FBN1 mutation screening as some nucleotide changes and functional domains ...
F. Mhlongo, C. Feben, A. Krause, N. Carstens, N. Carstens   +4 more
doaj   +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

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