In 1991-94 we started basic research on mutation analysis and functional genetic analysis of keratin disorders, which was after 2000 up-graded with cell biology functional analysis (see MCMB current research).
Research projects:
- Interinstitutional national research program P1-0104 Functional Genomics and Biotechnology for Health (R. Komel); 1999-2004, 2004-2008 and 2009-2014.
- J3-6132 Dinamics of cytoskeleton intermediary filaments and their role in the development of disease phenotype; national basic research project (M. Liovič), 1.2.2004 – 30.1.2007.
- Post-doctoral research project »Dynamics of keratin cytoskeleton and development of a disease phenotype« (M. Liovič); 1.7.2001 – 30.6.2004.
- C1-0509 Molecular biology in biotechnology and medicine: [basic research project of MF; ARRS, URP (RF) Molecular Biology]. R. Komel: Project Leader of WP B, 1991―1992.
Clinical partner:
- Clinic for Dermatovenerology in Ljubljana (Prof. Aleksej Kansky, M.D.; Dr. Božena Podrumac, M.D.; Dr. Vlasta Dragoš, M.D.).
International collaboration:
- Department of Dermatology, College of Medicine, University of Wales, Cardiff, U.K. (Prof. Paul E. Bowden, M.D.).
- Department of Anatomy and Physiology, University of Dundee, Dundee, U.K. (Prof. Birgitte E. Lane).
Researchers involved:
| Researcher | Position |
| Radovan Komel | Head of Department / Project leader |
| Mirjana Liović |
PhD & PostDoc student Later: Project leader |
| Siniša Tomić | MSc student (Croatia) |
Education:
| Student | Thesis | Title | Year | Supervisors |
| Mirjana Liović | PhD | Keratin 5 and 14 gene mutations in epidermolysis bullosa simplex patients – genotype to phenotype correlations. | 2000 | Radovan Komel |
| Mirjana Liović | MSc | Determination of candidate genes by single stranded conformation polymorphism analysis. | 1996 | Radovan Komel |
| Siniša Tomić | MSc | Looking for polymorphisms in two keratin genes at hereditary palmoplantar keratoderma. | 1993 |
Radovan Komel Aleksej Kansky |
Selected publications:
- Liović M. et al. (2009): Keratin 5 and 14 mutations induce down-regulation of junction proteins in keratinocytes. Cell Res. 17(315): 2995-3003.
- Bowden P.E. (2009): A novel mutation (p.Thr198Ser) in the 1A helix of keratin 5 causes the localized variant of Epidermolysis Bullosa Simplex. Dermatol. 18(7): 650-652.
- Liović M. et al. (2008): Dual-specificity phosphatases in the hypo-osmotic stress response of keratin-defective epithelial cell lines. Cell Research 314(10): 2066-2075.
- Liović M. et al. (2004): A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype. Dermatol. 13(5): 332-334.
- Alessandro M.D. et al. (2004): Functional improvement of mutant keratin cells on addition of desmin : an alternative approach to gene therapy for dominant diseases. Gene Therapy 11(11): 1290-1295.
- Dragoš V. et al. (2003): Epidermolysis bullosa simplex in Slovenia. Acta Dermatovenerol. A.P.A. 12: 83-88.
- Liović M. et al. (2001): A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes. Invest. Dermatol. 116(6): 964-969.
- Liović M. et al. (2000): K5 D328E : a novel missense mutation in the linker 12 domain of keratin 5 associated with epidermolysis bullosa simplex (Weber-Cockayne). Human Heredity 50(4): 234-236.
- Tomić S. et al. (1992): Keratin 5 associated restriction fragment length polymorphism in patients with palmoplantar keratoderma of unna-thost type. Acta Dermatovenerol. A.P.A. 1(4): 114-118.