Results 21 to 30 of about 9,471 (216)

Difficulties in diagnosing Marfan syndrome using current FBN1 databases [PDF]

Genetics in Medicine, 2016
The diagnostic criteria of Marfan syndrome (MFS) highlight the importance of a FBN1 mutation test in diagnosing MFS. As genetic sequencing becomes better, cheaper, and more accessible, the expected increase in the number of genetic tests will become evident, resulting in numerous genetic variants that need to be evaluated for disease-causing effects ...
Groth, Kristian A, Gaustadnes, Mette, Thorsen, Kasper, Østergaard, John R, Jensen, Uffe Birk, Gravholt, Claus H, Andersen, Niels Holmark   +6 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

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

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

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   +3 more sources

A novel mutation in FBN1 gene in autosomal dominant Marfan syndrome and macular degeneration in a Chinese consanguineous family [PDF]

International Journal of Ophthalmology, 2019
AIM: To report a novel mutation in FBN1 gene in a Chinese consanguineous family with common Marfan syndrome (MFS) phenotype and an unusual bilateral macular degeneration.
Ping-Bo Ouyang, Yuan Zhao, Ying-Qian Peng, Lu-Si Zhang, Jian Cao, Yun Li   +5 more
doaj   +1 more source

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

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

Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome [PDF]

Genetics in Medicine, 2021
Individuals with mosaic pathogenic variants in the FBN1 gene are mainly described in the course of familial screening. In the literature, almost all these mosaic individuals are asymptomatic. In this study, we report the experience of our team on more than 5,000 Marfan syndrome (MFS) probands.Next-generation sequencing (NGS) capture technology allowed ...
Pauline Arnaud, Hélène Morel, Olivier Milleron, Laurent Gouya, Christine Francannet, Antoine Da Costa, Carine Le Goff, Guillaume Jondeau, Catherine Boileau, Nadine Hanna   +9 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