The Molecular Genetics Core Laboratory (MGCL) is a shared resource facility that will provide expertise in clinical and molecular human genetics for collaborations and service to the investigators participating in the projects of the Interdisciplinary Basic Research in Dermatology Program.
The specific aims of the core are: 1. To provide clinical diagnosis and collection of tissue samples of patients and families affected with inherited skin disorders of keratinization or adhesion. 2. To provide a DNA sequencing service. 3. To construct and bank immortalized lymphoblastoid cell lines of probands and their families affected with inherited skin disorders. 4. To sequence the candidate gene, PPP2C which encodes the protein phosphatase 2A catalytic subunit, of selected harlequin ichthyosis patients for mutation.
| Bunick, Christopher G; Presland, Richard B; Lawrence, Owen T et al. (2015) Crystal Structure of Human Profilaggrin S100 Domain and Identification of Target Proteins Annexin II, Stratifin, and HSP27. J Invest Dermatol 135:1801-1809 |
| Chan, Aegean; Godoy-Gijon, Elena; Nuno-Gonzalez, Almudena et al. (2015) Cellular basis of secondary infections and impaired desquamation in certain inherited ichthyoses. JAMA Dermatol 151:285-92 |
| Mitchell, Anna L; Judis, LuAnn M; Schwarze, Ulrike et al. (2012) Characterization of tissue-specific and developmentally regulated alternative splicing of exon 64 in the COL5A1 gene. Connect Tissue Res 53:267-76 |
| Chatterjea, Sudeshna M; Resing, Katheryn A; Old, William et al. (2011) Optimization of filaggrin expression and processing in cultured rat keratinocytes. J Dermatol Sci 61:51-9 |
| Mitchell, Anna L; Schwarze, Ulrike; Jennings, Jessica F et al. (2009) Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS). Hum Mutat 30:995-1002 |
| Abrass, C K; Berfield, A K; Ryan, M C et al. (2006) Abnormal development of glomerular endothelial and mesangial cells in mice with targeted disruption of the lama3 gene. Kidney Int 70:1062-71 |
| Kelsell, David P; Norgett, Elizabeth E; Unsworth, Harriet et al. (2005) Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet 76:794-803 |
| Pirrone, Annalisa; Hager, Barbara; Fleckman, Philip (2005) Primary mouse keratinocyte culture. Methods Mol Biol 289:3-14 |
| Presland, Richard B; Fleckman, Philip (2005) Tetracycline-regulated gene expression in epidermal keratinocytes. Methods Mol Biol 289:273-86 |
| Frank, Diane E; Carter, William G (2004) Laminin 5 deposition regulates keratinocyte polarization and persistent migration. J Cell Sci 117:1351-63 |
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