Results 11 to 20 of about 4,235 (189)

Novel variant of FBN2 in a patient with congenital contractual arachnodactyly [PDF]

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

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-
Liying Sun, Yingzhao Huang, Yingzhao Huang, Yingzhao Huang, Sen Zhao, Sen Zhao, Sen Zhao, Wenyao Zhong, Jile Shi, Jile Shi, Jile Shi, Yang Guo, Junhui Zhao, Ge Xiong, Yuehan Yin, Zefu Chen, Zefu Chen, Zefu Chen, Nan Zhang, Zongxuan Zhao, Qingyang Li, Dan Chen, Yuchen Niu, Yuchen Niu, Xiaoxin Li, Xiaoxin Li, Guixing Qiu, Guixing Qiu, Guixing Qiu, Zhihong Wu, Zhihong Wu, Zhihong Wu, Terry Jianguo Zhang, Terry Jianguo Zhang, Terry Jianguo Zhang, Wen Tian, Nan Wu, Nan Wu, Nan Wu   +38 more
doaj   +3 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, Cook, J, El Khoury, Louis, Handley, C J, Posthumus, Michael, Raleigh, Stuart M, van der Merwe, W   +6 more
core   +4 more sources

Screening and expression validation of key proteins for secondary hair follicle growth in cashmere goats based on iTRAQ quantitative proteomics technology [PDF]

Frontiers in Veterinary Science
BackgroundThe growth of secondary hair follicles (SHFs) in cashmere goats has periodic changes, including telogen, anagen, and catagen, during which proteins play important roles as the executor of life activities.ResultsIn this study, the skin tissues ...
Jiale Chang, Jiale Chang, Fanhua Meng, Fanhua Meng, Ru Zhang, Ru Zhang, Juan Feng, Juan Feng, Yujing Liu, Yujing Liu, Junjie Zhang, Junjie Zhang, Zhaomin Liu, Zhaomin Liu, Jiayue Liang, Hongmei Xiao, Hongmei Xiao   +16 more
doaj   +2 more sources

Tenascin-C-Matrix Metalloproteinase-3 Phenotype and the Risk of Tendinopathy in High-Performance Athletes: A Case–Control Study [PDF]

Diagnostics
Background/Objectives: Tendon structure is predominantly composed of the extracellular matrix (ECM), and genetic variants in non-collagenous ECM components may influence susceptibility to tendinopathy.
Lucas Rafael Lopes, Marcus Vinícius Galvão Amaral, Rodrigo Araujo Goes, Valéria Tavares, Francisca Dias, Rui Medeiros, Daniel Escorsim Machado, Jamila Alessandra Perini   +7 more
doaj   +2 more sources

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

Scientific Reports, 2023
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   +2 more sources

Genomic variations associated with risk and protection against vincristine-induced peripheral neuropathy in pediatric cancer patients [PDF]

npj Genomic Medicine
Vincristine-induced peripheral neuropathy is a common and highly debilitating toxicity from vincristine treatment that affects quality of life and often requires dose reduction, potentially affecting survival.
Kheireddin Mufti, Miguel Cordova, Erika N. Scott, Jessica N. Trueman, Jessica M. Lovnicki, Catrina M. Loucks, Shahrad R. Rassekh, Colin J. D. Ross, Bruce C. Carleton, On behalf of the Canadian Pharmacogenomics Network for Drug Safety Consortium   +9 more
doaj   +2 more sources

Case report: Identification of novel fibrillin-2 variants impacting disulfide bond and causing congenital contractural arachnodactyly

Frontiers in Genetics, 2023
Background: Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder with clinical features of arthrogryposis, arachnodactyly, crumpled ears, scoliosis, and muscular hypoplasia. The heterozygous pathogenic variants
An-Lei Li, An-Lei Li, Ji-Qiang He, Ji-Qiang He, Lei Zeng, Lei Zeng, Yi-Qiao Hu, Yi-Qiao Hu, Yi-Qiao Hu, Min Wang, Min Wang, Jie-Yi Long, Si-Hua Chang, Jie-Yuan Jin, Jie-Yuan Jin, Jie-Yuan Jin, Rong Xiang, Rong Xiang, Rong Xiang, Rong Xiang   +19 more
doaj   +1 more source

Ocular Phenotype ofFbn2-Null Mice [PDF]

Investigative Opthalmology & Visual Science, 2013
Fibrillin-2 (Fbn2) is the dominant fibrillin isoform expressed during development of the mouse eye. To test its role in morphogenesis, we examined the ocular phenotype of Fbn2(-/-) mice.Ocular morphology was assessed by confocal microscopy using antibodies against microfibril components.Fbn2(-/-) mice had a high incidence of anterior segment dysgenesis.
Yanrong, Shi, Yidong, Tu, Robert P, Mecham, Steven, Bassnett   +3 more
openaire   +2 more sources