Results 21 to 30 of about 9,183 (184)

Molecular analysis of eight mutations in FBN1

Human Genetics, 1999
Mutations in the gene encoding extracellular glycoprotein fibrillin-1 (FBN1) cause Marfan syndrome (MFS) and other related connective tissue disorders. In this study, eight mutations have been detected in MFS patients by heteroduplex analysis. These comprise two missense mutations, C1835Y and C2258Y in calcium-binding epidermal growth factor-like ...
Halliday, D, Hutchinson, S, Kettle, S, Firth, H, Wordsworth, P, Handford, P   +5 more
openaire   +3 more sources

Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants [PDF]

Journal of Human Genetics, 2015
The diagnosis of Marfan syndrome (MFS) remains challenging despite the 2010 revision to Ghent nosology criteria, and there is a lack of published information regarding FBN1 genotype associations in patients since the update in Ghent criteria. Applying revised Ghent criteria, we reviewed consecutive proband cases (n=292) submitted for FBN1 sequencing ...
Linnea M, Baudhuin, Katrina E, Kotzer, Susan A, Lagerstedt   +2 more
openaire   +2 more sources

Molecular cloning, characterization and 3D modelling of spotted snakehead fbn1 C-terminal region encoding asprosin and expression analysis of fbn1

Scientific Reports, 2023
AbstractThe FBN1 gene encodes profibrillin protein that is cleaved by the enzyme furin to release fibrillin-1 and a glucogenic hormone, asprosin. Asprosin is implicated in diverse metabolic functions as well as pathological conditions in mammals. However, till date, there are no studies on asprosin in any non-mammalian vertebrate.
Priyanka Sathoria, Bhawna Chuphal, Umesh Rai, Brototi Roy   +3 more
openaire   +3 more sources

REGULAR GENETIC COUNSELING AND DNA-DIAGNOSTICS OF MARFAN SYNDROME IN THE WORK OF FEDERAL SURGERY INSTITUTION

Российский кардиологический журнал, 2016
Aim. To invent a complex approach to patients with “marfanoid phenotype” undergoing surgery, applying the DNA-diagnostics of the gene FBN1 and medical genetic counseling.Material and methods.
V. A. Rumyantseva, Yu. A. Rogozhina, A. A. Bukaeva, D. V. Bazarov, E. R. Charchyan, E. V. Zaklyazminskaya   +5 more
doaj   +1 more source

DNA DIAGNOSTICS AND MUTATION SPECTRUM OF THE GENE FBN1 IN MARFAN’S SYNDROME

Российский кардиологический журнал, 2015
Aim. The development of an optimal protocol for diagnostic search for mutations with the use of the new generation sequencing technique (NGS) and evaluation of the mutation spectrum in Russian selection of the patients with Marfan syndrome.Material and ...
Yu. A. Rogozhina, V. A. Rumyantseva, A. A. Bukaeva, E. V. Zaklyazminskaya   +3 more
doaj   +1 more source

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
openaire   +2 more sources

Novel p.G1344E mutation in FBN1 is associated with ectopia lentis [PDF]

British Journal of Ophthalmology, 2020
BackgroundEctopia lentis refers to dislocation or subluxation of the crystalline lens. Fibrillin-1, encoded by FBN1, is an important microfibrillar structural component that is specifically required for the suspensory ligament of the lens. FBN1 mutations may cause abnormal structure of microfibrils and has been associated with a broad spectrum of ...
Yuan Yang, Ya-li Zhou, Teng-teng Yao, Hui Pan, Ping Gu, Zhao-yang Wang   +5 more
openaire   +2 more sources

Paucity of skeletal manifestations in hispanic families with FBN1 mutations [PDF]

European Journal of Medical Genetics, 2010
Marfan syndrome (MFS) is an autosomal dominant condition with pleiotropic manifestations involving the skeletal, ocular, and cardiovascular systems. The diagnosis is based primarily on clinical involvement of these and other systems, referred to as the Ghent criteria. We have identified three Hispanic families from Mexico with cardiovascular and ocular
Carlos, Villamizar, Ellen S, Regalado, Van Tran, Fadulu, Sumera N, Hasham, Prateek, Gupta, Marcia C, Willing, Shao-Qing, Kuang, Dongchuan, Guo, Ann, Muilenburg, Richard W, Yee, Yuxin, Fan, Jeffrey, Towbin, Joseph S, Coselli, Scott A, LeMaire, Dianna M, Milewicz   +14 more
openaire   +2 more sources

Knockdown of fibrillin-1 suppresses retina-blood barrier dysfunction by inhibiting vascular endothelial apoptosis under diabetic conditions [PDF]

International Journal of Ophthalmology
AIM: To investigate the effects of fibrillin-1 (FBN1) deletion on the integrity of retina-blood barrier function and the apoptosis of vascular endothelial cells under diabetic conditions.
Yue Zhang, Xiao-Jing Liu, Xin-Ran Zhai, Yao Yao, Bin Shao, Yu-Han Zhen, Xin Zhang, Zhe Xiao, Li-Fang Wang, Ming-Lian Zhang, Zhi-Min Chen   +10 more
doaj   +1 more source

Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.

PLoS ONE, 2021
The human FBN1 gene encodes fibrillin-1 (FBN1); the main component of the 10-12 nm diameter extracellular matrix microfibrils. Marfan syndrome (MFS) is a common inherited connective tissue disorder, caused by FBN1 mutations.
Sacha A Jensen, Ondine Atwa, Penny A Handford   +2 more
doaj   +1 more source