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Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.
It is concluded that MCUL is probably a genetically homogeneous tumour predisposition syndrome, primarily resulting from absent or severely reduced fumarase activity, with currently unknown functional consequences for the smooth muscle or kidney cell.
High prevalence of epidermodysplasia verruciformis-associated human papillomavirus DNA in actinic keratoses of the immunocompetent population
- H. Pfister, P. Fuchs, S. Majewski, S. Jabłońska, I. Pniewska, M. Malejczyk
- MedicineArchives of Dermatological Research
- 15 November 2003
A broad spectrum of EV-HPV types including oncogenic HPV5 and HPV8 and partially characterized sequences were detected in actinic keratoses and cutaneous cancers and would suggest involvement ofEV-HPVs in the early stages of cutaneous oncogenesis.
Epidermodysplasia verruciformis as a model of human papillomavirus-induced genetic cancer of the skin.
Epidermodysplasia verruciformis is a model not only of cutaneous viral oncogenesis but also of local defense mechanisms in the progression of human papillomavirus-associated cancers.
Human papillomavirus-associated tumors of the skin and mucosa.
Novel therapeutic modalities for HPV tumors and prospects for prophylactic and therapeutic vaccination are presented and recent serologic findings based on enzyme-linked immunosorbent assay results with the use of viruslike particles are discussed.
Persistent down-regulation of Fli1, a suppressor of collagen transcription, in fibrotic scleroderma skin.
- M. Kubo, J. Czuwara-Ladykowska, +7 authors M. Trojanowska
- Biology, MedicineThe American journal of pathology
- 1 August 2003
Persistent down-regulation of Fli1 in scleroderma fibroblasts in vivo may directly contribute to uncontrolled matrix deposition in s cleroderma skin.
Gene profiling of scleroderma skin reveals robust signatures of disease that are imperfectly reflected in the transcript profiles of explanted fibroblasts.
SSc has a distinct gene profile that is not confounded by geographic location, indicating that extended multicenter studies may be worthwhile to identify distinct subsets of disease by transcript profiling.
Pemphigus herpetiformis: from first description until now.
- M. Kasperkiewicz, C. Kowalewski, S. Jabłońska
- MedicineJournal of the American Academy of Dermatology
- 1 April 2014
Current knowledge considering epidemiology, clinical manifestations, histologic findings, immunopathology, pathophysiologic concepts, associated diseases, and treatment of this rare disorder of pemphigus herpetiformis is described.
Clinical, serologic, and immunogenetic features in Polish patients with idiopathic inflammatory myopathies.
- I. Hausmanowa-Petrusewicz, E. Kowalska-Olędzka, +4 authors S. Jabłońska
- MedicineArthritis and rheumatism
The results of this study confirm that IIM are heterogeneous syndromes, but can be divided into more useful groups on the basis of clinical, serologic, and immunogenetic features.
Antibodies to human papillomavirus type 5 are generated in epidermal repair processes.
- M. Favre, S. Majewski, +4 authors S. Jabłońska
- MedicineThe Journal of investigative dermatology
- 1 March 2000
The data strongly suggest that extensive keratinocyte proliferation is a major factor for the generation of anti-HPV5 antibodies and that autoimmunity may contribute to this phenomenon.
IgA Class Endomysium Antibodies in Dermatitis Herpetiformis and Coeliac Disease a
- T. Chorzelski, J. Sulej, H. Tchórzewska, S. Jabłońska, E. Beutner, V. Kumar
- MedicineAnnals of the New York Academy of Sciences
- 1 December 1983
The first findings on IgA class antibody reacting with endomysium IgA-EmA of smooth muscle, particularly of monkey esophagus are set forth, which are found in a significant proportion of patients with DH, coeliac disease and other gut diseases but not in cases of LABD.