Associated Papers
Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.
Jensen SA et al.
Plos One, 2021
A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy.
Vatti L et al.
American Journal of Medical Genetics. Part A, 2017
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
24941995 (PubMed )
Supplement: 1471-2156-15-74-S2.docx
Molecular analysis for diagnosis of Marfan syndrome and Marfan-associated disorders.
Gao LG et al.
Chinese Medical Journal, 2011
Recent molecular biological progress in Marfan syndrome and Marfan-associated disorders.
Gao LG et al.
Ageing Research Reviews, 2010
Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome.
Rand-Hendriksen S et al.
American Journal of Medical Genetics. Part A, 2007
Cellular and molecular studies of Marfan syndrome mutations identify co-operative protein folding in the cbEGF12-13 region of fibrillin-1.
Whiteman P et al.
Human Molecular Genetics, 2007
The molecular genetics of Marfan syndrome and related disorders.
Robinson PN et al.
Journal of Medical Genetics, 2006
Solution structure and dynamics of a calcium binding epidermal growth factor-like domain pair from the neonatal region of human fibrillin-1.
Smallridge RS et al.
The Journal of Biological Chemistry, 2003
Fibrillin-1, a calcium binding protein of extracellular matrix.
Handford PA
Biochimica Et Biophysica Acta, 2000
Molecular effects of calcium binding mutations in Marfan syndrome depend on domain context.
McGettrick AJ et al.
Human Molecular Genetics, 2000
Engineered mutations in fibrillin-1 leading to Marfan syndrome act at the protein, cellular and organismal levels.
Zeyer KA et al.
Mutation Research. Reviews in Mutation Research, 0
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