233 South Tenth Street
Bluemle Life Sciences Building, Room 406
Philadelphia, PA 19107
(215) 503-4834
Bluemle Life Sciences Building, Room 406
Philadelphia, PA 19107
(215) 503-4834
Most Recent Peer-reviewed Publications
- Loss of fibulin-2 protects against progressive ventricular dysfunction after myocardial infarction
- Tumor-specific expression and alternative splicing of the COL6A3 gene in pancreatic cancer
- Dysfunctional tendon collagen fibrillogenesis in collagen VI null mice
- Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: Role of the C2a splice variant
- Fibulin-2 and fibulin-5 cooperatively function to form the internal elastic lamina and protect from vascular injury
- Latent transforming growth factor β-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites
- Retinoic acid receptors are required for skeletal growth, matrix homeostasis and growth plate function in postnatal mouse
- Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance
- Fibulin-2 is dispensable for mouse development and elastic fiber formation
- Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: Implications for congenital muscular dystrophy types Ullrich and Bethlem
- Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa
- Mouse embryo fibroblasts lacking the tumor suppressor menin show altered expression of extracellular matrix protein genes
- Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis
- A comparative analysis of the fibulin protein family: Biochemical characterization, binding interactions, and tissue localization
- COL6A1 genomic deletions in bethlem myopathy and ullrich muscular dystrophy
- Erratum: Transcriptional and posttranscriptional regulation of fibulin-1 by estrogens leads to differential induction of messenger ribonucleic acid variants in ovarian and breast cancer cells (Endocrinology (2005) 146 (760-768))
- A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy
- Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy
- Transcriptional and posttranscriptional regulation of fibulin-1 by estrogens leads to differential induction of messenger ribonucleic acid variants in ovarian and breast cancer cells
- Automated genomic sequence analysis of the three collagen VI genes: Applications to Ullrich congenital muscular dystrophy and Bethlem myopathy