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References from Genotype-associated structural and nanomechanical alterations of aortic fibrillin-1 microfibrils in Marfan syndrome. Local targets link to admitted publications; unresolved targets remain external evidence.
Marfan’s syndrome
10.1016/s0140-6736(05)67789-6 · 2005 · External reference
Potential predictors of severe cardiovascular involvement in Marfan syndrome: the emphasized role of genotype-phenotype correlations in improving risk stratification-a literature review
10.1186/s13023-021-01882-6 · 2021 · External reference
Cysteine-to-arginine point mutation in a 'hybrid' eight-cysteine domain of FBN1: consequences for fibrillin aggregation and microfibril assembly
10.1242/jcs.108.3.1317 · 1995 · External reference
Exploring the molecular etiology of dominant-negative mutations
10.1105/tpc.107.055053 · 2007 · External reference
Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement
10.1186/s13023-020-01569-4 · 2020 · External reference
Beneficial outcome of losartan therapy depends on type of FBN1 mutation in Marfan syndrome
10.1161/circgenetics.114.000950 · 2015 · External reference
Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome
10.1007/s00439-007-0371-x · 2007 · External reference
The multiple functions of Fibrillin-1 microfibrils in organismal physiology
10.3390/ijms23031892 · 2022 · External reference
Fibrillin microfibrils
10.1016/s0065-3233(05)70012-7 · 2005 · External reference
Atomic force microscopy and modeling of natural elastic fibrillin polymers
10.1016/s0248-4900(98)80018-x · 1998 · External reference
Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils
10.1083/jcb.103.6.2499 · 1986 · External reference
Elastic fibers during aging and disease
10.1016/j.arr.2021.101255 · 2021 · External reference
Knockdown of fibrillin-1 suppresses retina-blood barrier dysfunction by inhibiting vascular endothelial apoptosis under diabetic conditions
10.18240/ijo.2024.08.03 · 2024 · External reference
Fibrillin microfibril structure identifies long-range effects of inherited pathogenic mutations affecting a key regulatory latent TGFβ-binding site
10.1038/s41594-023-00950-8 · 2023 · External reference
Fibrillin-rich microfibrils of the extracellular matrix: ultrastructure and assembly
10.1016/s0968-4328(99)00082-7 · 2001 · External reference
Fell-Muir lecture: Fibrillin microfibrils: structural tensometers of elastic tissues?
10.1111/iep.12239 · 2017 · External reference
The supramolecular organization of fibrillin-rich microfibrils
10.1083/jcb.152.5.1045 · 2001 · External reference
Fibrillin microfibrils are stiff reinforcing fibres in compliant tissues
10.1016/s0022-2836(03)00829-5 · 2003 · External reference
The modulus of elasticity of fibrillin-containing elastic fibres in the mesoglea of the hydromedusa Polyorchis penicillatus
10.1242/jeb.01765 · 2005 · External reference
The extracellular matrix glycoprotein fibrillin-1 in health and disease
2023 · External reference
Fibrillin microfibrils and elastic fibre proteins: functional interactions and extracellular regulation of growth factors
10.1016/j.semcdb.2018.07.016 · 2019 · External reference
TGF-β signaling in health, disease, and therapeutics
10.1038/s41392-024-01764-w · 2024 · External reference
Possible extracardiac predictors of aortic dissection in Marfan syndrome
10.1186/1471-2261-14-47 · 2014 · External reference
Circulating transforming growth factor-beta in Marfan syndrome
10.1161/circulationaha.108.841981 · 2009 · External reference
The revised Ghent nosology for the Marfan syndrome
10.1136/jmg.2009.072785 · 2010 · External reference
Lung function changes are more common in Marfan patients who need major thoracic surgery
10.1007/s00408-019-00236-1 · 2019 · External reference
Airway obstruction can be better predicted using global lung function initiative spirometry reference equations in Marfan syndrome
2021 · External reference
Insights into elastic fiber fragmentation: mechanisms and treatment of aortic aneurysm in Marfan syndrome
10.1016/j.vph.2023.107215 · 2023 · External reference
The role of transforming growth factor-beta in Marfan syndrome
10.5603/cj.2013.0066 · 2013 · External reference
Cardiovascular manifestations in men and women carrying a FBN1 mutation
10.1093/eurheartj/ehq258 · 2010 · External reference
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study
10.1086/520125 · 2007 · External reference
Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes
10.1086/341581 · 2002 · External reference
Aortic dissection in patients with Marfan syndrome based on the IRAD data
10.21037/acs.2017.10.03 · 2017 · External reference
Insights from the international registry of acute aortic dissection: a 20-year experience of collaborative clinical research
10.1161/circulationaha.117.031264 · 2018 · External reference
Nanoscale structural comparison of Fibrillin-1 microfibrils isolated from Marfan and non-Marfan syndrome human aorta
10.3390/ijms24087561 · 2023 · External reference
Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders
10.1016/s0092-8674(00)81259-3 · 1996 · External reference
Solution structure of the transforming growth factor beta-binding protein-like module, a domain associated with matrix fibrils
10.1093/emboj/16.22.6659 · 1997 · External reference
A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer
10.1101/gad.997502 · 2002 · External reference
Tissue specific differences in fibrillin microfibrils analysed using single particle image analysis
10.1016/j.jsb.2006.03.021 · 2006 · External reference
Fibrillin microfibrils: a key role for the interbead region in elasticity
10.1016/j.jmb.2009.02.062 · 2009 · External reference
Structural and compositional diversity of fibrillin microfibrils in human tissues
10.1074/jbc.ra117.001483 · 2018 · External reference
Fibrillin-1: organization in microfibrils and structural properties
10.1006/jmbi.1996.0237 · 1996 · External reference
Structural and compositional diversity of fibrillin microfibrils in human tissues
10.1074/jbc.ra117.001483 · 2018 · External reference
Proteomic analysis of fibrillin-rich microfibrils
10.1002/pmic.200401340 · 2006 · External reference
Fibrillin degradation by matrix metalloproteinases: implications for connective tissue remodelling
10.1042/bj3400171 · 1999 · External reference
Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome
10.1074/jbc.275.16.12339 · 2000 · External reference
Calcium stabilizes fibrillin-1 against proteolytic degradation
10.1074/jbc.272.2.1231 · 1997 · External reference
Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome
10.1056/nejm199007193230303 · 1990 · External reference
Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms
10.1172/jci117298 · 1994 · External reference
Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome
10.1006/geno.1993.1349 · 1993 · External reference
Two novel fibrillin-1 mutations resulting in premature termination codons but in different mutant transcript levels and clinical phenotypes
10.1002/humu.1380110112 · 1998 · External reference
Case report: biochemical and clinical phenotypes caused by cysteine substitutions in the epidermal growth factor-like domains of fibrillin-1
2022 · External reference
Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome
10.1074/jbc.275.16.12339 · 2000 · External reference
Impact of pathogenic FBN1 variant types on the progression of aortic disease in patients with Marfan syndrome
10.1161/circgen.117.002058 · 2018 · External reference
Morphology and biomechanics of the microfibrillar network of sea cucumber dermis
10.1242/jeb.199.8.1817 · 1996 · External reference
Mechanical role of elastin-associated microfibrils in pig aortic elastic tissue
10.3109/03008209809028905 · 1998 · External reference
Elastic arteries in invertebrates: mechanics of the octopus aorta
10.1126/science.7256277 · 1981 · External reference
The supramolecular organisation of fibrillin-rich microfibrils determines the mechanical properties of bovine zonular filaments
10.1242/jeb.202.21.3011 · 1999 · External reference
Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome
10.1172/jci200420641 · 2004 · External reference
New insights into the structure, assembly and biological roles of 10-12 nm connective tissue microfibrils from fibrillin-1 studies
10.1042/bj20151108 · 2016 · External reference
Cellular and molecular studies of Marfan syndrome mutations identify co-operative protein folding in the cbEGF12-13 region of fibrillin-1
10.1093/hmg/ddm035 · 2007 · External reference
Structure of the fibrillin-1 N-terminal domains suggests that heparan sulfate regulates the early stages of microfibril assembly
10.1016/j.str.2013.08.004 · 2013 · External reference
Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders
10.1016/s0092-8674(00)81259-3 · 1996 · External reference
Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils
10.1016/s0021-9258(18)98752-1 · 1991 · External reference
The mechanical hierarchies of fibronectin observed with single-molecule AFM
10.1016/s0022-2836(02)00306-6 · 2002 · External reference
Steered molecular dynamic simulations reveal Marfan syndrome mutations disrupt fibrillin-1 cbEGF domain mechanosensitive calcium binding
10.1038/s41598-020-73969-2 · 2020 · External reference
Elastin, arterial mechanics, and cardiovascular disease
10.1152/ajpheart.00087.2018 · 2018 · External reference
The role of fibrillin and microfibril binding proteins in elastin and elastic fibre assembly
10.1016/j.matbio.2019.06.006 · 2019 · External reference
Biogenesis and function of fibrillin assemblies
10.1007/s00441-009-0822-x · 2010 · External reference
The establishment of the Marfan syndrome biobank in Hungary
10.1556/oh.2012.29295 · 2012 · External reference
Investigation of fibrillin microfibrils in the canine cruciate ligament in dogs with different predispositions to ligament rupture
10.1016/j.rvsc.2020.09.006 · 2020 · External reference
Isolation and ultrastructural analysis of microfibrillar structures from foetal bovine elastic tissues. Relative abundance and supramolecular architecture of type VI collagen assemblies and fibrillin
10.1242/jcs.99.4.797 · 1991 · External reference
Gwyddion: an open-source software for SPM data analysis
10.2478/s11534-011-0096-2 · 2012 · External reference
