Fibrillin mutations in Marfan syndrome and related phenotypes
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Cited by (107)
Marfan syndrome revisited: From genetics to the clinic
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2016, Kelley and Firestein's Textbook of Rheumatology: Volumes 1-2, Tenth EditionMultiple-interactions among EMILIN1 and EMILIN2 N- and C-terminal domains
2015, Matrix BiologyCitation Excerpt :One of the first steps in the assembly process of fibrillin-1, a major constituent of microfibrils expressed at the elastic fibers, is its oligomerization into SS bonded multimers, that occurs within a few hours after secretion. This step is followed by the aggregation of fibrillin-1 microfibrils into large microfibrillar bundles (Reinhardt et al., 2000; Ramirez, 1996; Pereira et al., 1997; Pereira et al., 1999; Lin et al., 2002; Charbonneau et al., 2003; Marson et al., 2005). EMILINs are apparently subjected to more complex interactions since after the gC1q-directed homo-trimerization process taking place intracellularly, they form multimers via both non-covalent as well as covalent SS bonds in the extracellular space.
Paucity of skeletal manifestations in hispanic families with FBN1 mutations
2010, European Journal of Medical GeneticsSurgical pathology of chronic ascending aortic dissections
2008, Pathology
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