Results 11 to 20 of about 2,722 (177)

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 ...
Wei Liu, Ning Zhao, Xue-fu Li, Hong Wang, Yu Sui, Yong-ping Lu, Wen-hua Feng, Chao Ma, Wei-tian Han, Miao Jiang   +9 more
exaly   +5 more sources

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

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 ...
Shahan Mamoor
core   +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

ELN and FBN2 gene variants as risk factors for two sports-related musculoskeletal injuries [PDF]

International Journal of Sports Medicine, 2015
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
Collins, M, van der Merwe, W, Cook, J, Raleigh, Stuart M, Posthumus, Michael, Handley, C J, El Khoury, Louis   +6 more
core   +3 more sources

The fibrillinopathies : new insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2

Human Mutation, 2022
: Different pathogenic variants in the fibrillin\u20101 gene (FBN1) cause Marfan syndrome and acromelic dysplasias. Whereas the musculoskeletal features of Marfan syndrome involve tall stature, arachnodactyly, joint hypermobility and muscle hypoplasia ...
De Kinderen, Pauline, Meester, Josephina A. N., Meester, Josephina, Peeters, Silke, Loeys, Bart L., Verstraeten, Aline, Loeys, Bart   +6 more
core   +4 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

Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts

American journal of human genetics, 1997
Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder that is phenotypically related to the Marfan syndrome. CCA has recently been shown to result from mutations in the FBN2 gene, which encodes an elastin-associated ...
Park, E. S., Aalfs, C. M., Hennekam, R. C., Putnam, E. A., Milewicz, D. M.   +4 more
core   +3 more sources