Results 41 to 50 of about 10,344 (220)
Experimental and bioinformatic characterisation of the promoter region of the Marfan syndrome gene, FBN1 [PDF]
, 2009 Mutations in the FBN1 gene, encoding the extracellular matrix protein fibrillin-1, result in the dominant connective tissue disease Marfan syndrome.
Sweet, Matthew J +13 more
core +1 more source
Knockdown of fibrillin-1 suppresses retina-blood barrier dysfunction by inhibiting vascular endothelial apoptosis under diabetic conditions [PDF]
International Journal of OphthalmologyAIM: 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 +10 more
doaj +1 more source
FBN1 contributing to familial congenital diaphragmatic hernia [PDF]
American Journal of Medical Genetics Part A, 2015 Congenital diaphragmatic hernia (CDH) is a relatively common, life‐threatening birth defect. We present a family with recurrent CDH—paraesophageal and central—for whom exome sequencing (ES) revealed a frameshift mutation (c.4969_4970insA, p.Ile1657Asnfs*30) in the fibrillin 1 gene (FBN1) that causes Marfan syndrome.
Tyler F, Beck +15 more
openaire +2 more sources
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 +7 more
doaj
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 +4 more
doaj +1 more source
Geleophysic dysplasia caused by a mutation in FBN1: A case report
World Journal of Clinical Cases, 2021 Geleophysic dysplasia (GD) presents the characterized clinical manifestations of acromelic dysplasia, including extremely short stature, short limbs, small hands and feet, stubby fingers and toes, joint stiffness and others. It is clinically distinct from the other acromelic dysplasia in terms of symptoms such as cardiac valvular abnormalities ...
Tao, Ying +3 more
openaire +2 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 +5 more
doaj +1 more source
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 +8 more
doaj +1 more source
Conservation of 5′-upstream region of the FBN1 gene in primates [PDF]
European Journal of Human Genetics, 2008 Fibrillin-1 is a multifunctional extracellular protein encoded by the FBN1 gene. FBN1 is 237 kb in size and is located on chromosome 15q21. FBN1 mutations are known to cause Marfan syndrome and other fibrillinopathies. FBN1 is composed of 65 exons and 3 additional alternatively spliced exons at the 5' end.
Krishna Kumar, Singh +2 more
openaire +2 more sources
A familial case of Marfan syndrome: a novel variant in the FBN1 gene
RUDN Journal of MedicineMarfan 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 +11 more
doaj +1 more source