Results 21 to 30 of about 23,678,950 (225)

Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype-phenotype analysis. [PDF]

Br J Ophthalmol, 2022
Aims To identify the mutation spectrum and genotype–phenotype correlations of fibrillin-1 (FBN1) mutations in a Chinese cohort with congenital ectopia lentis (EL).
Chen Z, Chen T, Zhang M, Chen J, Deng M, Zheng J, Lan LN, Jiang Y.   +7 more
europepmc   +2 more sources

Involvement of Aquaporin 1 in the Motility and in the Production of Fibrillin 1 and Type I Collagen of Cultured Human Dermal Fibroblasts [PDF]

Cosmetics, 2022
Aminocarbonyl proteins increase with age in the dermal layer. Gene Chip analysis of mRNA expression in human dermal fibroblasts cultured on collagen gels treated with glyceraldehyde as an aminocarbonyl protein and on untreated collagen gels showed a ...
Kazuhisa Maeda, Shiori Yoshida
doaj   +2 more sources

Fibrillin-1 Mutations Causing Weill-Marchesani Syndrome and Acromicric and Geleophysic Dysplasias Disrupt Heparan Sulfate Interactions [PDF]

PLoS ONE, 2012
The extracellular glycoprotein fibrillin-1 forms microfibrils that act as the template for elastic fibers. Most mutations in fibrillin-1 cause Marfan syndrome with severe cardiovascular and ocular symptoms, and tall stature.
Stuart A Cain, Clair Baldock, Cay M Kielty   +2 more
exaly   +2 more sources

Higher blood pressure in elderly hypertensive females, with increased arterial stiffness and blood pressure in females with the Fibrillin-1 2/3 genotype

BMC Cardiovascular Disorders, 2020
Background Elderly patients have a relatively high cardiovascular risk due to increased arterial stiffness, elevated blood pressure and decreased amounts of elastin in the arteries.
Ida Åström Malm, Urban Alehagen, Peter Blomstrand, Ulf Dahlström, Rachel De Basso   +4 more
doaj   +2 more sources

Aqueous humor TGFβ and fibrillin-1 in Tsk mice reveal clues to POAG pathogenesis [PDF]

Scientific Reports
Aqueous humor (AH) and blood levels of transforming growth factor β (TGFβ) are elevated in idiopathic primary open angle glaucoma (POAG) representing a disease biomarker of unclear status and function.
James C. Tan, MinHee K. Ko, Jeong-Im Woo, Kenneth L. Lu, Jonathan A. Kelber   +4 more
doaj   +2 more sources

Targeted deletion of fibrillin-1 in the mouse eye results in ectopia lentis and other ocular phenotypes associated with Marfan syndrome

Disease Models & Mechanisms, 2019
Fibrillin is an evolutionarily ancient protein that lends elasticity and resiliency to a variety of tissues. In humans, mutations in fibrillin-1 cause Marfan and related syndromes, conditions in which the eye is often severely affected.
Wendell Jones, Juan Rodriguez, Steven Bassnett   +2 more
doaj   +2 more sources

Fibrillin‐1 in the Vasculature: In Vivo Accumulation of eGFP‐Tagged Fibrillin‐1 in a Knockin Mouse Model

The Anatomical Record, 2020
Immunolocalization studies have shown that fibrillin‐1 is distributed ubiquitously in the connective tissue space from early embryonic times through old age.
N. Charbonneau, Elise C. Manalo, S. Tufa, E. Carlson, V. Carlberg, D. Keene, L. Sakai   +6 more
semanticscholar   +4 more sources

Steered molecular dynamic simulations reveal Marfan syndrome mutations disrupt fibrillin-1 cbEGF domain mechanosensitive calcium binding. [PDF]

Sci Rep, 2020
Marfan syndrome (MFS) is a highly variable genetic connective tissue disorder caused by mutations in the calcium binding extracellular matrix glycoprotein fibrillin-1.
Haller SJ, Roitberg AE, Dudley AT.
europepmc   +2 more sources

DNA methylation ambiguity in the Fibrillin-1 (FBN1) CpG island shore possibly involved in Marfan syndrome. [PDF]

Sci Rep, 2020
Fibrillin-1 (FBN1) is responsible for haploinsufficient and autosomal dominant Marfan syndrome. Even in the same Marfan pedigree, penetrance and expressivity in heterozygous individuals can differ and result in variable disease onset and severity.
Arai Y, Umeyama K, Okazaki N, Nakano K, Nishino K, Nagashima H, Ohgane J.   +6 more
europepmc   +2 more sources

Fibrillin-1-regulated miR-122 has a critical role in thoracic aortic aneurysm formation. [PDF]

Cell Mol Life Sci, 2022
Zhang RM, Tiedemann K, Muthu ML, Dinesh NEH, Komarova S, Ramkhelawon B, Reinhardt DP.   +6 more
europepmc   +2 more sources