Subject Areas on Research
- A novel fibrotic disorder associated with increased dermal fibroblast proliferation and downregulation of genes of the microfibrillar network.
- Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.
- Juvenile bilateral lens dislocation and glaucoma associated with a novel mutation in the fibrillin 1 gene.
- Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.
- Ophthalmic genetics/inherited eye disease.
- Revisiting the mystery of fibronectin multimers: the fibronectin matrix is composed of fibronectin dimers cross-linked by non-covalent bonds.
- The role of β-arrestin2-dependent signaling in thoracic aortic aneurysm formation in a murine model of Marfan syndrome.