A5083641650- Herpesvirus Infections and Treatments
- RNA regulation and disease
- Genetic and rare skin diseases.
- Cervical Cancer and HPV Research
- Skin and Cellular Biology Research
- Genital Health and Disease
- Plant Virus Research Studies
- Vector-Borne Animal Diseases
- Polyomavirus and related diseases
- 3D Printing in Biomedical Research
- RNA modifications and cancer
- Immunotherapy and Immune Responses
- Bacteriophages and microbial interactions
- Virology and Viral Diseases
- Genomics and Chromatin Dynamics
- NF-κB Signaling Pathways
- Animal Genetics and Reproduction
University of Basel
2016-2020
University Hospital of Basel
2016-2020
Patients with epidermodysplasia verruciformis (EV) and biallelic null mutations of TMC6 (encoding EVER1) or TMC8 (EVER2) are selectively prone to disseminated skin lesions due keratinocyte-tropic human β-papillomaviruses (β-HPVs), which lack E5 E8. We describe EV patients homozygous for the CIB1 gene encoding calcium- integrin-binding protein-1 (CIB1). is strongly expressed in cultured keratinocytes controls but not those patients. forms a complex EVER1 EVER2, proteins EVER1- EVER2-deficient...
Epidermodysplasia verruciformis (EV) is an autosomal recessive skin disorder with a phenotype conditional on human beta-papillomavirus (beta-HPV) infection. Such infections are common and asymptomatic in the general population, but individuals EV, they lead to development of plane wart-like red or brownish papules pityriasis versicolor-like lesions, from childhood onwards. Most patients develop non-melanoma cancer (NMSC), mostly areas UV-exposed skin, twenties thirties At least half cases...
Ichthyosis with confetti (IWC) is a genodermatosis associated dominant-negative variants in keratin 10 (KRT10) or 1 (KRT1). These frameshift result extended aberrant proteins, localized to the nucleus rather than cytoplasm. This mislocalization thought occur as of altered carboxy (C)-terminus, from poly-glycine either poly-arginine -alanine tail. Previous studies on type C-terminus and subcellular localization respective mutant protein are divergent. In order fully elucidate pathomechanism...
Abstract Epidermodysplasia verruciformis (EV) is a genodermatosis characterized by the inability of keratinocytes to control cutaneous β-HPV infection and high risk for non-melanoma skin cancer (NMSC). Bi-allelic loss function variants in TMC6, TMC8, CIB1 predispose EV. The correlation between these proteins unclear. Its elucidation will advance understanding HPV human development NMSC. We generated cell culture model CRISPR/Cas9-mediated deletion study keratinocytes. Nine knockout nine mock...