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41 results on '"Bauer, J.W."'

8. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility

Author

Has, C., primary, Bauer, J.W., additional, Bodemer, C., additional, Bolling, M.C., additional, Bruckner‐Tuderman, L., additional, Diem, A., additional, Fine, J.‐D., additional, Heagerty, A., additional, Hovnanian, A., additional, Marinkovich, M.P., additional, Martinez, A.E., additional, McGrath, J.A., additional, Moss, C., additional, Murrell, D.F., additional, Palisson, F., additional, Schwieger‐Briel, A., additional, Sprecher, E., additional, Tamai, K., additional, Uitto, J., additional, Woodley, D.T., additional, Zambruno, G., additional, and Mellerio, J.E., additional

Published
2020
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14. 185 CRISPR/Cas9 mediated gene correction of COL7A1

Author

Hainzl, S., primary, Peking, P., additional, Kocher, T., additional, Murauer, E.M., additional, Larcher, F., additional, Río, M del, additional, Duarte, B.G., additional, Steiner, M., additional, Klausegger, A., additional, Bauer, J.W., additional, Reichelt, J., additional, and Koller, U., additional

Published
2017
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27. Increased tumour cell PD‐L1 expression, macrophage and dendritic cell infiltration characterise the tumour microenvironment of ulcerated primary melanomas.

Author

Koelblinger, P., Emberger, M., Drach, M., Cheng, P.F., Lang, R., Levesque, M.P., Bauer, J.W., and Dummer, R.

Subjects
DENDRITIC cells, TUMORS, MELANOMA, NEURAL development, ANTIGEN processing
Abstract

Background: Primary melanoma ulceration is an unfavourable prognostic factor included in current staging systems. Yet, the immunological and molecular alterations responsible for this adverse outcome have not been fully elucidated. Objectives: We aimed to identify immunological differences between ulcerated and non‐ulcerated primary melanomas concerning both innate and adaptive immunity and to correlate these with clinical outcome. Methods: Formalin‐fixed paraffin‐embedded primary melanomas from 112 patients (pts) were analysed by immunohistochemistry. The expression of various markers identifying tumour‐infiltrating lymphocytes, macrophages and dendritic cells was evaluated semi‐quantitatively by three independent investigators. Tumour cell expression of programmed death‐ligand 1 (PD‐L1), transporter of antigen processing 1 and the MxA protein was also analysed. Results: Recurrence occurred in 21/56 pts (37.5%) with ulcerated vs. 14/56 pts (25.0%) with non‐ulcerated tumours (P = 0.15). Tumour ulceration was associated with more frequent development of brain metastasis (17.6 vs. 3.6% of pts, P = 0.015). Immunohistochemistry showed an association of ulceration with the presence of intratumoural CD68+ macrophages (P = 0.028) as well as with increased numbers of intratumoural CD11c+ dendritic cells (P = 0.014) and CD163+ macrophages (P = 0.001). PD‐L1 positivity (expression in >1% of tumour cells) was more frequent in ulcerated than non‐ulcerated tumours [40 (72.7%) vs. 25 (44.6%), P = 0.003]. A positive correlation between intratumoural CD11c+ (Spearman's correlation coefficient ρ: 0.42) and CD163+ (ρ: 0.31) cell count and frequency of tumour cell PD‐L1 expression was detected. Conclusions: Our results confirm the adverse clinical outcome associated with primary melanoma ulceration, particularly concerning the risk of recurrence and subsequent development of brain metastases. The observed immunological differences suggest a conceivable role of increased intratumoural macrophage and dendritic cell counts associated with enhanced tumour cell PD‐L1 expression potentially contributing to the immunosuppressive, growth‐promoting microenvironment of ulcerated primary melanomas. [ABSTRACT FROM AUTHOR]

Published
2019
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35. An ex vivo RNA trans‐splicing strategy to correct human generalized severe epidermolysis bullosa simplex.

Author

Breitenbach, J.S., Ablinger, M., Poetschke, F.J., Kocher, T., Koller, U., Hainzl, S., Kitzmueller, S., Reichelt, J., Lettner, T., Wally, V., Peking, P., Muss, W.H., and Bauer, J.W.

Abstract

Summary: Background: Generalized severe epidermolysis bullosa simplex (EBS‐gen sev) is a genetic blistering skin disease in which autosomal dominant mutations in either the keratin KRT5 or KRT14 genes lead to impaired function of the intermediate filament cytoskeleton in the basal epidermis. Here we present an ex vivo RNA trans‐splicing‐based therapeutic approach to correct the phenotype. Objectives: To correct a mutation within exon 1 of the KRT14 gene, using a 5′‐trans‐splicing approach, where any mutation within the first seven exons could be replaced by a single therapeutic molecule. Methods: A therapeutic RNA trans‐splicing molecule containing wild‐type exons 1–7 was stably transduced into an EBS patient‐derived keratinocyte line. Trans‐splicing was confirmed via reverse‐transcriptase polymerase chain reaction, Western blotting and immunofluorescence microscopy. Skin equivalents generated from corrected keratinocytes were grafted onto nude mice and analysed about 8 weeks post‐transplantation for regular epidermal stratification, trans‐splicing‐induced green fluorescent protein expression and blistering. Results: Transplanted skin equivalents generated from trans‐splicing‐corrected patient keratinocytes showed a stable and blister‐free epidermis. KRT14 correction disrupted EBS‐gen sev‐associated proinflammatory signalling, as shown at the mRNA and protein levels. Disruption of the pathogenic feedback loop in addition to overall downregulation of KRT14 expression highlighted the effect of KRT14 correction on the EBS pathomechanism. Conclusions: Our data demonstrate that trans‐splicing‐mediated mRNA therapy is an effective method for the correction of dominantly inherited KRT14 mutations at the transcriptional level. This results in the rescue of the EBS‐gen sev phenotype and stabilization of the epidermis in a xenograft mouse model. What's already known about this topic? RTM163, described in this study, was previously used in a transient in vitro transfection system, where the ability to correct KRT14 at the mRNA level was demonstrated. What does this study add? In this study, we stably transduced RTM163 in a second patient‐derived keratinocyte line.Successful trans‐splicing was confirmed in this cell line.The expression of disease‐related marker genes, which are characteristically deregulated in epidermolysis bullosa simplex, were analysed.For the first time this study showed that RNA trans‐splicing molecule‐transduced patient keratinocytes can differentiate into a phenotypically normal and blister‐free epidermis in a xenograft mouse model. What is the translational message? This study shows the feasibility of using spliceosome‐mediated RNA trans‐splicing to generate a stable and blister‐free epidermis in vivo.Combined with pre‐existing ex vivo gene therapeutic methods, this might be a valid option for future treatments of dominantly inherited genodermatoses. Linked Comment: Bremer and van den Akker. Br J Dermatol 2019; 180:17–19. [ABSTRACT FROM AUTHOR]

Published
2019
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37. Increased levels of matrix metalloproteinase-9 and interleukin-8 in blister fluids of dystrophic and junctional epidermolysis bullosa patients.

Author

Lettner, T., Lang, R., Bauer, J.W., and Wally, V.

Subjects
MATRIX metalloproteinases, INTERLEUKIN-8, EPIDERMOLYSIS bullosa, PATIENTS
Abstract

A letter to the editor is presented regarding the effect of increased levels of matrix metalloproteinase-9 (MMP-9) and interleukin-8 (IL-8) in blister fluids of patients with dystrophic and junctional epidermolysis bullosa.

Published
2015
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