Results 31 to 40 of about 9,471 (216)

Identification of novel FBN1 variations implicated in congenital scoliosis [PDF]

Journal of Human Genetics, 2019
AbstractCongenital scoliosis (CS) is a form of scoliosis caused by congenital vertebral malformations. Genetic predisposition has been demonstrated in CS. We previously reported that TBX6 loss-of-function causes CS in a compound heterozygous model; however, this model can explain only 10% of CS.
Mao Lin, Sen Zhao, Gang Liu, Yingzhao Huang, Chenxi Yu, Yanxue Zhao, Lianlei Wang, Yuanqiang Zhang, Zihui Yan, Shengru Wang, Sen Liu, Jiaqi Liu, Yongyu Ye, Yaping Chen, Xu Yang, Bingdu Tong, Zheng Wang, Xinzhuang Yang, Yuchen Niu, Xiaoxin Li, Yipeng Wang, Jianzhong Su, Jian Yuan, Hengqiang Zhao, Shuyang Zhang, Guixing Qiu, Guixing Qiu, Zhihong Wu, Jianguo Zhang, Nan Wu, Shengru Wang, Jiaqi Liu, Sen Liu, Yuzhi Zuo, Gang Liu, Yuanqiang Zhang, Chenxi Yu, Sen Zhao, Lianlei Wang, Yanxue Zhao, Zihui Yan, Xinzhuang Yang, Hengqiang Zhao, Yuchen Niu, Xiaoxin Li, Mao Lin, Shiro Ikegawa, Jianguo Zhang, Zhihong Wu, Nan Wu   +49 more
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A Review of Three Chinese Cases of Acromicric/Geleophysic Dysplasia with FBN1 Mutations

International Journal of General Medicine, 2021
Yan-Chun Shan, Zhao-Chuan Yang, Liang Ma, Ni Ran, Xue-Ying Feng, Xiao-Mei Liu, Peng Fu, Ming-Ji Yi Department of Child Health Care, Pediatric Center, Affiliated Hospital of Qingdao University, Qingdao, 266003, People’s Republic of ...
Shan YC, Yang ZC, Ma L, Ran N, Feng XY, Liu XM, Fu P, Yi MJ   +7 more
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Retracted: Long non‐coding RNA PGM5‐AS1 promotes epithelial‐mesenchymal transition, invasion and metastasis of osteosarcoma cells by impairing miR‐140‐5p‐mediated FBN1 inhibition

Molecular Oncology, 2020
Osteosarcoma is an uncommon tumor occurring in bone, accompanied by elevated incidence and reduced rate of healing. Epithelial‐to‐mesenchymal transition (EMT) serves as a conceptual paradigm to explain the invasion and metastasis of osteosarcoma and ...
Wei Liu, Pengcheng Liu, Hang Gao, Xu Wang, Ming Yan   +4 more
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Genotype-phenotype correlations of marfan syndrome and related fibrillinopathies: Phenomenon and molecular relevance

Frontiers in Genetics, 2022
Marfan syndrome (MFS, OMIM: 154700) is a heritable multisystemic disease characterized by a wide range of clinical manifestations. The underlying molecular defect is caused by variants in the FBN1. Meanwhile, FBN1 variants are also detected in a spectrum
Ze-Xu Chen, Ze-Xu Chen, Ze-Xu Chen, Wan-Nan Jia, Wan-Nan Jia, Wan-Nan Jia, Yong-Xiang Jiang, Yong-Xiang Jiang, Yong-Xiang Jiang   +8 more
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A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome [PDF]

BioMed Research International, 2018
Marfan syndrome (MFS) is an autosomal dominantly inherited connective tissue disorder, mostly caused by mutations in the fibrillin-1 (FBN1) gene. We, by using targeted next-generation sequence analysis, identified a novel intronic FBN1 mutation (the c.2678-15C>A variant) in a MFS patient with aortic dilatation.
Mario Torrado, Emilia Maneiro, Juan Pablo Trujillo-Quintero, Arturo Evangelista, Alexander T. Mikhailov, Lorenzo Monserrat   +5 more
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Generation of human induced pluripotent stem cell line UGENTi001-A from a patient with Marfan syndrome carrying a heterozygous c.7754 T > C variant in FBN1 and the isogenic control UGENT001-A-1 using CRISPR/Cas9 editing

Stem Cell Research, 2023
Marfan syndrome is an autosomal dominant genetic disorder resulting from pathogenic variants in FBN1 gene. FBN1 encodes for fibrillin-1, an important extracellular matrix protein.
Jeffrey Aalders, Laurens Léger, Anthony Demolder, Laura Muiño Mosquera, Paul Coucke, Björn Menten, Julie De Backer, Jolanda van Hengel   +7 more
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A Recurring FBN1 Gene Mutation in Neonatal Marfan Syndrome [PDF]

Archives of Pediatrics & Adolescent Medicine, 2002
Marfan syndrome is an autosomal dominant disorder of connective tissue caused by mutations in the fibrillin 1 gene (FBN1). FBN1 mutations have been associated with a broad spectrum of phenotypes. Neonatal Marfan syndrome has unique clinical manifestations and mutations.To determine if there is a discernible genotypic-phenotypic correlation associated ...
Amanda M, Jacobs, Ivanka, Toudjarska, Andrew, Racine, Petros, Tsipouras, Michael W, Kilpatrick, Alan, Shanske   +5 more
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A familial case of Marfan syndrome: a novel variant in the FBN1 gene

RUDN Journal of Medicine
Marfan syndrome is a hereditary connective tissue disorder characterized by marked pleiotropy and clinical variability. The main disease manifestations involve three systems: skeletal, ocular, and cardiovascular.
Vsevolod I. Stepanenko, Irina Z.H. Zhalsanova, Elizaveta A. Fonova, Daria N. Erburova, Sofia N. Gosudarkina, Ekaterina G. Ravzhaeva, Svetlana V. Fadyushina, Anastasiya A. Nikitina, Gulnara N. Seitova, Olesya I. Klimchuk, Vadim A. Stepanov, Nikolay A. Skryabin   +11 more
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Hsa_circ_0004674 promotes osteosarcoma doxorubicin resistance by regulating the miR-342-3p/FBN1 axis

Journal of Orthopaedic Surgery and Research, 2021
Background The occurrence of chemoresistance is a common problem in tumor treatment. Circular RNA (circRNA) has been confirmed to be related to tumor chemoresistance.
Yumei Bai, Yanghua Li, Juan Bai, Yumei Zhang   +3 more
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Identification of Pathological FBN1 Variants Is Not Straightforward [PDF]

Circulation: Genomic and Precision Medicine, 2018
See Article by Muino-Mosquera et al The ability to identify DNA variants that are pathogenic forms the basis for unbiased characterization of inherited diseases. Improved access to genetic testing and the increasing clinical use of whole exome and whole genome sequencing have identified variants of uncertain pathogenicity often associated with an ...
West, Malcolm, Summers, Kim
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