Results 31 to 40 of about 10,344 (220)

Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes [PDF]

, 2009
We improved, evaluated, and used Sanger sequencing for quantification of single nucleotide polymorphism (SNP) variants in transcripts and gDNA samples.
Fokstuen, S., Magyar, I., Addor, Marie-Claude, Addor, M.C., Steinmann, Beat, Berger, Wolfgang, Colman, D., Fokstuen, Siv, Magyar, I, Carrel, T, Arnold, E., Carrel, Thierry, Mátyás, G., Magyar, István, Baumgartner, D, Arnold, E, Fokstuen, S, Colman, Dvora, Baumgartner, D., Bottani, Armand, Colman, D, Mátyás, Gábor, Carrel, T., Bottani, A, Steinmann, B, Mátyás, G, Arnold, Eliane, Steinmann, B., Addor, M C, Berger, W, Bottani, A., Berger, W., Baumgartner, Daniela   +32 more
core   +1 more source

Genetically engineered animal models for Marfan syndrome: challenges associated with the generation of pig models for diseases caused by haploinsufficiency

The Journal of Reproduction and Development, 2022
Recent developments in reproductive biology have enabled the generation of genetically engineered pigs as models for inherited human diseases. Although a variety of such models for monogenic diseases are currently available, reproduction of human ...
Naomi JACK, Tomoyuki MUTO, Keigo IEMITSU, Tamaki WATANABE, Kazuhiro UMEYAMA, Jun OHGANE, Hiroshi NAGASHIMA   +6 more
doaj   +1 more source

Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome [PDF]

, 2007
Mutations in the FBN1 gene are the major cause of Marfan syndrome (MFS), an autosomal dominant connective tissue disorder, which displays variable manifestations in the cardiovascular, ocular, and skeletal systems.
Mátyás, Gábor, Berger, Wolfgang; https://orcid.org/, Steinmann, Beat, Carrel, Thierry; https://orcid.org/, Berger, Wolfgang, Alonso, Sira, Arnold, Eliane, Marti, Myriam, Carrel, Thierry, Magyar, István, Patrignani, Andrea, Patrignani, Andrea; https://orcid.org/, Henggeler, Caroline, Mátyás, Gábor; https://orcid.org/   +13 more
core   +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

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

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
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

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

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

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