Two Novel FBN2 Variants Causing Congenital Contractural Arachnodactyly [PDF]
Genetics ResearchCongenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disease characterized by arachnodactyly, camptodactyly, multiple joint contractures, tall and slender habitus, crumpled ears, and scoliosis.
Juan Zhao +9 more
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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
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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
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Case Report: A novel variant in fibrillin-2 identified in a congenital contractural arachnodactyly family with phenotypic heterogeneity [PDF]
Frontiers in MedicineBackground and objectivesCongenital contractural arachnodactyly (CCA) is a rare autosomal dominant connective tissue disorder, and FBN2 is its only known causative gene.
Nan-Miao Wang +11 more
doaj +2 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 ...
Zhaohui He
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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).
Da Dong Guo +2 more
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A Novel Splicing Mutation in the FBN2 Gene in a Family With Congenital Contractural Arachnodactyly
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.
Sexin Huang, Yuan Gao, Li Ruirui
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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 +2 more sources
Cardiovascular and Clinical Manifestations of Marfan Syndrome and Other Inherited Connective Tissue Disorders with Coexisting Genetic Variants [PDF]
CellsMarfan syndrome (MS), Loeys–Dietz syndrome (LDS), Beals–Hecht syndrome (BHS), Ehlers–Danlos syndrome (EDS), and individuals with undifferentiated connective tissue disease (UCTD) exhibit phenotypic overlap, suggesting a likelihood of genotypic ...
Maria Elena Soto +11 more
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Identification of Novel FBN2 Variants in a Cohort of Congenital Contractural Arachnodactyly
Frontiers in Genetics, 2022 Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant disorder of connective tissue characterized by crumpled ears, arachnodactyly, camptodactyly, large joint contracture, and kyphoscoliosis. The nature course of CCA has not been well-
Sen Zhao, Wenyao Zhong, Ge Xiong
exaly +3 more sources