Results 11 to 20 of about 2,855 (182)

Missense variants of FBN2 associated with congenital arachnodactyly in three Chinese families [PDF]

Molecular Genetics and Metabolism Reports
Background: 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, Yongping Lu, Meina Lin, Xinren Chen, Xiang Ni, Huan Li, Miao Jiang   +6 more
doaj   +5 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, Valerie Carlberg, Sara F Tufa, Noe L Charbonneau, Silvia Smaldone, Eric J Carlson, Francesco Ramirez, Douglas R Keene, Lynn Y Sakai   +8 more
doaj   +5 more sources

Novel variant of FBN2 in a patient with congenital contractual arachnodactyly

Human Genome Variation
Congenital contractual arachnodactyly (CCA) is a genetic connective tissue disorder that is characterized by arachnodactyly, kyphoscoliosis, marfanoid habitus, and crumpled ears. We report a case of a boy with suspected Marfan syndrome.
Mina Nakama, Yuki Miwa, Sayaka Manabe, Shigeru Shimamoto, Hidenori Ohnishi   +4 more
doaj   +4 more sources

TheFBN2gene: new mutations, locus-specific database (Universal Mutation DatabaseFBN2), and genotype-phenotype correlations [PDF]

Human Mutation, 2008
Congenital contractural arachnodactyly (CCA) is an extremely rare disease, due to mutations in the FBN2 gene encoding fibrillin-2. Another member of the fibrillin family, the FBN1 gene, is involved in a broad phenotypic continuum of connective-tissue disorders including Marfan syndrome.
Frédéric, Melissa Yana, Monino, Christine, Marschall, Christoph, Hamroun, Dalil, Faivre, Laurence, Jondeau, Guillaume, Klein, Hanns-Georg, Neumann, Luitgard, Gautier, Elodie, Binquet, Christine, Maslen, Cheryl, Godfrey, Maurice, Gupta, Prateek, Milewicz, Dianna, Boileau, Catherine, Claustres, Mireille, Béroud, Christophe, Collod-Béroud, Gwenaëlle   +17 more
openaire   +5 more sources

Intravitreal injection of fibrillin 2 (Fbn2) recombinant protein for therapy of retinopathy in a retina-specific Fbn2 knock-down mouse model

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, Ying Wen, Da Dong Guo, Fu Ru Xu, Gui Min Wang, Xing Rong Wang, Yong Wei Shi, Jie Ding, Qian Jiang, Wen Jun Jiang, Jost B. Jonas, Hong Sheng Bi   +11 more
doaj   +3 more sources

Differential expression of FBN2 in cancer of the cervix.

, 2023
Almost all cervical cancers are caused by infection with high-risk human papillomaviruses (HPVs) (1-3); the transcriptional features that distinguish the gene expression programs of HPV-induced cancers from that of cancers resulting from non-viral abrogation of tumor suppression remain incompletely defined.
Shahan Mamoor
openaire   +2 more sources

Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the FBN2 gene [PDF]

Clinical Case Reports, 2022
Congenital contractural arachnodactyly (CCA) is caused by pathogenic FBN2 variants; however, the contributions of copy number variations (CNVs) to CCA are still unknown.
Hiroki Yagi, Hiroshi Takiguchi, Norifumi Takeda, Ryo Inuzuka, Yuki Taniguchi, Kristine Joyce Porto, Hiroyuki Ishiura, Jun Mitsui, Hiroyuki Morita, Issei Komuro   +9 more
doaj   +3 more sources

ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2. [PDF]

PLoS ONE, 2010
BackgroundFibrillins 1 (FBN1) and 2 (FBN2) are components of microfibrils, microfilaments that are present in many connective tissues, either alone or in association with elastin.
Gaynor Miller, Monica Neilan, Ruth Chia, Nabeia Gheryani, Natalie Holt, Annabelle Charbit, Sara Wells, Valter Tucci, Zuzanne Lalanne, Paul Denny, Elizabeth M C Fisher, Michael Cheeseman, Graham N Askew, T Neil Dear   +13 more
doaj   +2 more sources

ELN and FBN2 Gene Variants as Risk Factors for Two Sports-related Musculoskeletal Injuries [PDF]

International Journal of Sports Medicine, 2014
The proteins ELN and FBN2 are important in extracellular matrix function. The ELN rs2071307 and FBN2 rs331079 gene variants have been associated with soft tissue pathologies. We aimed to determine whether these variants were predisposing factors for both Achilles tendinopathy (AT) and anterior cruciate ligament (ACL) ruptures.
El Khoury, Louis, Posthumus, Michael, Collins, M, van der Merwe, W, Handley, C J, Cook, J, Raleigh, Stuart M   +6 more
openaire   +4 more sources

Methylation of CLDN6, FBN2, RBP1, RBP4, TFPI2, and TMEFF2 in esophageal squamous cell carcinoma [PDF]

Oncology Reports, 2009
In the development and progression of cancer, tumor suppressor genes may be silenced by mechanisms such as methylation. Thus the discovery of new genes silenced by methylation may uncover new tumor suppressor genes, and improve our understanding of cancer biology.
Liu, Jun-Feng, Tsunoda, Shigeru, Tian, Zi-Qing, Jamieson, Glyn G, Drew, Paul Anthony, De Young, Neville J, Wang, Xian, Smith, Eric   +7 more
openaire   +5 more sources