FBN2 promotes the proliferation, mineralization, and differentiation of osteoblasts to accelerate fracture healing [PDF]
Scientific ReportsFracture is a disease in which the continuity of bone is interrupted or the integrity of bone is destroyed due to various reasons. It can be life-threatening when severe fractures occur.
Jian Huang +4 more
exaly +5 more sources
Scientific Reports, 2023 Mutations in the extracellular matrix gene Fibrillin-2 (FBN2) are related to genetic macular degenerative disorders including age-related macular degeneration (AMD) and early-onset macular degeneration (EOMD).
Rui Xue Zhang +11 more
exaly +4 more sources
FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations [PDF]
Molecular Genetics and Metabolism ReportsBackground: Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant connective tissue disorder caused by mutations in the fibrillin-2 (FBN2) gene, characterized by crumpled ears, arachnodactyly, camptodactyly, dolichostenomelia, large ...
Yazhou Huang +6 more
doaj +3 more sources
Abnormal Activation of BMP Signaling Causes Myopathy in Fbn2 Null Mice
PLoS Genetics, 2015 Fibrillins are large extracellular macromolecules that polymerize to form the backbone structure of connective tissue microfibrils. Mutations in the gene for fibrillin-1 cause the Marfan syndrome, while mutations in the gene for fibrillin-2 cause ...
Gerhard Sengle +2 more
exaly +5 more sources
A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly [PDF]
FEBS Open Bio, 2015 Congenital contractural arachnodactyly (CCA, OMIM:121050) is an autosomal dominant condition that shares skeletal features with Marfan syndrome (MFS, OMIM:154700), including contractures, arachnodactyly, dolichostenomelia, scoliosis, crumpled ears and ...
Meina Lin
exaly +4 more sources
Missense variants of FBN2 associated with congenital arachnodactyly in three Chinese families [PDF]
Molecular Genetics and Metabolism ReportsBackground: Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant disorder caused by pathogenic variants of Fibrillin-2 (FBN2) gene. This study aimed to investigate the variants in three Chinese families with CCA.
Yu Sui +6 more
doaj +4 more sources
IET Systems Biology, 2023 Bladder cancer (BLCA) is a common and difficult‐to‐manage disease worldwide. Most common type of BLCA is urothelial carcinoma (UC). Fibrillin 2 (FBN2) was first discovered while studying Marfan syndrome, and its encoded products are associated with ...
Zechao Lu, Yongchang Lai, He Zhaohui
exaly +4 more sources
A Novel Splicing Mutation in the FBN2 Gene in a Family With Congenital Contractural Arachnodactyly [PDF]
Frontiers in Genetics, 2020 Congenital contractural arachnodactyly (CCA) is an extremely rare monogenic disorder in humans, and the prevalence of CCA is estimated to be less than 1 in 10,000 worldwide.
Yuan Gao
exaly +5 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 SciencesBackground: 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 +3 more
doaj +2 more sources
Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia – a novel mouse model providing insights into geleophysic dysplasia [PDF]
Disease Models & Mechanisms, 2015 Mutations in the secreted glycoprotein ADAMTSL2 cause recessive geleophysic dysplasia (GD) in humans and Musladin–Lueke syndrome (MLS) in dogs. GD is a severe, often lethal, condition presenting with short stature, brachydactyly, stiff skin, joint ...
Dirk Hubmacher +4 more
doaj +4 more sources