Results 11 to 20 of about 10,344 (220)

Update of the UMD-FBN1mutation database and creation of anFBN1polymorphism database

Human Mutation, 2003
Fibrillin is the major component of extracellular microfibrils. Mutations in the fibrillin gene on chromosome 15 (FBN1) were first described in the heritable connective disorder, Marfan syndrome (MFS). FBN1 has also been shown to harbor mutations related to a spectrum of conditions phenotypically related to MFS, called "type-1 fibrillinopathies." In ...
Collod-Béroud, Gwenaëlle, Le Bourdelles, Saga, Adès, Lesley C, Ala-Kokko, Leena, Booms, Patrick, Boxer, Maureen, Child, Anne, Comeglio, Paolo, De Paepe, Anne, Hyland, James C, Holman, Katerine, Kaitila, Ilkka, Loeys, Bart, Matyas, Gabor, Nuytinck, Lieve, Peltonen, Leena, Rantamaki, Terhi, Robinson, Peter N, Steinmann, Beat, Junien, Claudine, Béroud, Christophe, Boileau, Catherine   +21 more
openaire   +4 more sources

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
openaire   +5 more sources

Epigenome editing-mediated restoration of FBN1 expression by demethylation of CpG island shore in porcine fibroblasts

Biochemistry and Biophysics Reports
Fibrillin-1, an extracellular matrix protein encoded by the FBN1 gene, is crucial for maintaining connective tissue integrity. Mutations in FBN1 result in haploinsufficiency, leading to Marfan syndrome, in which the expression of functional FBN1 is ...
Rio Miyadai, Shiori Hinata, Yuya Amemiya, Satori Shigematsu, Kazuhiro Umeyama, Hiroshi Nagashima, Kenji Yamatoya, Jun Ohgane   +7 more
doaj   +2 more sources

Comprehensive Prediction of FBN1 Targeting miRNAs: A Systems Biology Approach for Marfan Syndrome [PDF]

Gazi Medical Journal
Objective: Marfan syndrome (MFS) is a genetic connective tissue disorder primarily caused by mutations in the FBN1 gene. Emerging evidence highlights the regulatory role of microRNAs (miRNAs) in modulating gene expression in MFS, but a systematic ...
Mehmet Emin Orhan, Yılmaz Mehmet Demirci, Müşerref Duygu Saçar Demirci   +2 more
doaj   +3 more sources

Cardiovascular manifestations in men and women carrying a FBN1 mutation [PDF]

European Heart Journal, 2010
In patients with Marfan syndrome and other type-1 fibrillinopathies, genetic testing is becoming more easily available, leading to the identification of mutations early in the course of the disease. This study evaluates the cardiovascular (CV) risk associated with the discovery of a fibrillin-1 (FBN1) mutation.A total of 1,013 probands with pathogenic ...
Detaint, Delphine, Faivre, Laurence, Collod-Beroud, Gwenaelle, Child, Anne, Loeys, Bart L, Binquet, Christine, Gautier, Élodie, Arbustini, Eloisa, Mayer, Karin, Arslan-Kirchner, Mine, Stheneur, Chantal, Halliday, Dorothy, Béroud, Christophe, Bonithon-Kopp, Claire, Claustres, Mireille, Plauchu, Henri, Robinson, Peter N, Kiotsekoglou, Anatoli, de Backer, Julie, Ades, Lesley, Francke, Uta, de Paepe, Anne, Boileau, Catherine, Jondeau, Guillaume   +23 more
openaire   +5 more sources

Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene

Molecular Cytogenetics, 2012
Background The majority of Marfan syndrome (MFS) cases is caused by mutations in the fibrillin-1 gene (FBN1), mapped to chromosome 15q21.1. Only few reports on deletions including the whole FBN1 gene, detected by molecular cytogenetic techniques, were ...
Colovati Mileny ES, da Silva Luciana RJ, Takeno Sylvia S, Mancini Tatiane I, N Dutra Ana R, Guilherme Roberta S, de Mello Cláudia B, Melaragno Maria I, A Perez Ana B   +8 more
doaj   +2 more sources

Software and database for the analysis of mutations in the human FBN1 gene [PDF]

Nucleic Acids Research, 1996
Fibrillin is the major component of extracellular microfibrils. Mutations in the fibrillin gene on chromosome 15 (FBN1) were described at first in the heritable connective tissue disorder, Marfan syndrome (MFS). More recently, FBN1 has also been shown to harbor mutations related to a spectrum of conditions phenotypically related to MFS and many ...
Collod, Gwenaelle, Béroud, Christophe, Soussi, Thierry, Junien, Claudine, Boileau, Catherine   +4 more
openaire   +6 more sources

An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21 [PDF]

Biology Open, 2013
Summary Although approximately 50% of Down Syndrome (DS) patients have heart abnormalities, they exhibit an overprotection against cardiac abnormalities related with the connective tissue, for example a lower risk of coronary artery disease.
Mireia Vilardell, Sergi Civit, Ralf Herwig   +2 more
doaj   +2 more sources

A novel FBN1 missense mutation (p.C102Y) associated with ectopia lentis syndrome in a Chinese family [PDF]

International Journal of Ophthalmology, 2015
AIM:To characterize the disease-causing mutations in a Chinese family with ectopia lentis syndrome (ELS).METHODS:Patients and their family members were given complete physical, ophthalmic, and cardiovascular examinations.
Yi Zhai, Wei Wang, Ya-Nan Zhu, Jin-Yu Li, Yin-Hui Yu, Kai-Ran Lai, Ke Yao   +6 more
doaj   +2 more sources

Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification

BMC Medical Genomics
Background Mutations in fibrillin-1 (FBN1) are known to be associated with Marfan syndrome (MFS), an autosomal dominant connective tissue disorder. Most FBN1 mutations are missense or nonsense mutations. Traditional molecular genetic testing for the FBN1
Xinxin Lu, Ren Wang, Mingjie Li, Biao Zhang, Huiying Rao, Xiaoli Huang, Xijun Chen, Yan’an Wu   +7 more
doaj   +2 more sources