| |  Online-Ressource |
|---|
| Verfasst von: | Stein, Stefan [VerfasserIn]  |
|---|
| | Ott, Marion G. [VerfasserIn] |
|---|
| | Schultze-Strasser, Stephan [VerfasserIn] |
|---|
| | Jauch, Anna [VerfasserIn] |
|---|
| | Burwinkel, Barbara [VerfasserIn] |
|---|
| | Kinner, Andrea [VerfasserIn] |
|---|
| | Schmidt, Manfred [VerfasserIn] |
|---|
| | Krämer, Alwin [VerfasserIn] |
|---|
| | Schwäble, Joachim [VerfasserIn] |
|---|
| | Glimm, Hanno [VerfasserIn] |
|---|
| | Koehl, Ulrike [VerfasserIn] |
|---|
| | Preiss, Carolin [VerfasserIn] |
|---|
| | Ball, Claudia R. [VerfasserIn] |
|---|
| | Martin, Hans [VerfasserIn] |
|---|
| | Göhring, Gudrun [VerfasserIn] |
|---|
| | Schwarzwälder, Kerstin [VerfasserIn] |
|---|
| | Hofmann, Wolf-Karsten [VerfasserIn] |
|---|
| | Karakaya, Kadin [VerfasserIn] |
|---|
| | Tchatchou, Sandrine [VerfasserIn] |
|---|
| | Yang, Rongxi [VerfasserIn] |
|---|
| | Reinecke, Petra [VerfasserIn] |
|---|
| | Kühlcke, Klaus [VerfasserIn] |
|---|
| | Schlegelberger, Brigitte [VerfasserIn] |
|---|
| | Thrasher, Adrian J. [VerfasserIn] |
|---|
| | Hoelzer, Dieter [VerfasserIn] |
|---|
| | Seger, Reinhard [VerfasserIn] |
|---|
| | Kalle, Christof von [VerfasserIn] |
|---|
| | Grez, Manuel [VerfasserIn] |
|---|
| Titel: | Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease |
|---|
| Verf.angabe: | Stefan Stein, Marion G. Ott, Stephan Schultze-Strasser, Anna Jauch, Barbara Burwinkel, Andrea Kinner, Manfred Schmidt, Alwin Krämer, Joachim Schwäble, Hanno Glimm, Ulrike Koehl, Carolin Preiss, Claudia Ball, Hans Martin, Gudrun Göhring, Kerstin Schwarzwaelder, Wolf-Karsten Hofmann, Kadin Karakaya, Sandrine Tchatchou, Rongxi Yang, Petra Reinecke, Klaus Kühlcke, Brigitte Schlegelberger, Adrian J. Thrasher, Dieter Hoelzer, Reinhard Seger, Christof von Kalle & Manuel Grez |
|---|
| E-Jahr: | 2010 |
|---|
| Jahr: | 24 January 2010 |
|---|
| Umfang: | 8 S. |
|---|
| Fussnoten: | Gesehen am 08.11.2023 |
|---|
| Titel Quelle: | Enthalten in: Nature medicine |
|---|
| Ort Quelle: | New York, NY : Nature America Inc., 1995 |
|---|
| Jahr Quelle: | 2010 |
|---|
| Band/Heft Quelle: | 16(2010), 2, Seite 198-204 |
|---|
| ISSN Quelle: | 1546-170X |
|---|
| Abstract: | Gene-modified autologous hematopoietic stem cells (HSC) can provide ample clinical benefits to subjects suffering from X-linked chronic granulomatous disease (X-CGD), a rare inherited immunodeficiency characterized by recurrent, often life-threatening bacterial and fungal infections. Here we report on the molecular and cellular events observed in two young adults with X-CGD treated by gene therapy in 2004. After the initial resolution of bacterial and fungal infections, both subjects showed silencing of transgene expression due to methylation of the viral promoter, and myelodysplasia with monosomy 7 as a result of insertional activation of ecotropic viral integration site 1 (EVI1). One subject died from overwhelming sepsis 27 months after gene therapy, whereas a second subject underwent an allogeneic HSC transplantation. Our data show that forced overexpression of EVI1 in human cells disrupts normal centrosome duplication, linking EVI1 activation to the development of genomic instability, monosomy 7 and clonal progression toward myelodysplasia. |
|---|
| DOI: | doi:10.1038/nm.2088 |
|---|
| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
DOI: https://doi.org/10.1038/nm.2088 |
|---|
| Datenträger: | Online-Ressource |
|---|
| Sprache: | eng |
|---|
| Sach-SW: | Adult |
|---|
| | Chromosomes, Human, Pair 7 |
|---|
| | DNA-Binding Proteins |
|---|
| | Genetic Therapy |
|---|
| | Genomic Instability |
|---|
| | Granulomatous Disease, Chronic |
|---|
| | Humans |
|---|
| | MDS1 and EVI1 Complex Locus Protein |
|---|
| | Monosomy |
|---|
| | Myelodysplastic Syndromes |
|---|
| | NADPH Oxidases |
|---|
| | Promoter Regions, Genetic |
|---|
| | Proto-Oncogenes |
|---|
| | Transcription Factors |
|---|
| K10plus-PPN: | 1869719751 |
|---|
| Verknüpfungen: | → Zeitschrift |
|---|
Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease / Stein, Stefan [VerfasserIn]; 24 January 2010 (Online-Ressource)
