Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Oliver Patrick March"'
Autor:
Thomas Kocher, Johannes Bischof, Simone Alexandra Haas, Oliver Patrick March, Bernadette Liemberger, Stefan Hainzl, Julia Illmer, Anna Hoog, Katharina Muigg, Heide-Marie Binder, Alfred Klausegger, Dirk Strunk, Johann Wolfgang Bauer, Toni Cathomen, Ulrich Koller
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 25, Iss , Pp 237-250 (2021)
Gene editing via homology-directed repair (HDR) currently comprises the best strategy to obtain perfect corrections for pathogenic mutations of monogenic diseases, such as the severe recessive dystrophic form of the blistering skin disease epidermoly
Externí odkaz:
https://doaj.org/article/484364ada6af4ded87cdb78ce75a9bd9
Autor:
Igor Petković, Johannes Bischof, Thomas Kocher, Oliver Patrick March, Bernadette Liemberger, Stefan Hainzl, Dirk Strunk, Anna Maria Raninger, Heide-Marie Binder, Julia Reichelt, Christina Guttmann-Gruber, Verena Wally, Josefina Piñón Hofbauer, Johann Wolfgang Bauer, Ulrich Koller
Publikováno v:
Frontiers in Medicine, Vol 9 (2022)
BackgroundEpidermolysis bullosa (EB), a severe genetic disorder characterized by blister formation in skin, is caused by mutations in genes encoding dermal-epidermal junction proteins that function to hold the skin layers together. CRISPR/Cas9-induce
Externí odkaz:
https://doaj.org/article/e558e28c793c49b181a16d8c359f5acf
Publikováno v:
Cells, Vol 9, Iss 1, p 112 (2020)
The skin provides direct protection to the human body from assault by the harsh external environment. The crucial function of this organ is significantly disrupted in genodermatoses patients. Genodermatoses comprise a heterogeneous group of largely m
Externí odkaz:
https://doaj.org/article/489d03e7e2bb44eb8d0a83da7fb83f2c
Autor:
Simone A. Haas, Heide-Marie Binder, Thomas Kocher, Johannes Bischof, Toni Cathomen, Oliver Patrick March, Dirk Strunk, Alfred Klausegger, Johann W. Bauer, Bernadette Liemberger, Anna Hoog, Julia Illmer, Katharina Muigg, Stefan Hainzl, Ulrich Koller
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 25, Iss, Pp 237-250 (2021)
Gene editing via homology-directed repair (HDR) currently comprises the best strategy to obtain perfect corrections for pathogenic mutations of monogenic diseases, such as the severe recessive dystrophic form of the blistering skin disease epidermoly
Autor:
Andreas Volz, Hedwig Wariwoda, I. Spoerri, Peter Itin, Bettina Burger, M. Aushev, Julia Reichelt, E. Imahorn, Oliver Patrick March, Patricia Renz, Sarah Von Arb
Publikováno v:
Journal of Cellular and Molecular Medicine
Ichthyosis with confetti (IWC) is a genodermatosis associated with dominant‐negative variants in keratin 10 (KRT10) or keratin 1 (KRT1). These frameshift variants result in extended aberrant proteins, localized to the nucleus rather than the cytopl
Autor:
Johannes Bischof, Oliver Patrick March, Bernadette Liemberger, Simone Alexandra Haas, Stefan Hainzl, Igor Petković, Victoria Leb-Reichl, Julia Illmer, Evgeniia Korotchenko, Alfred Klausegger, Anna Hoog, Heide-Marie Binder, Marta Garcia, Blanca Duarte, Dirk Strunk, Fernando Larcher, Julia Reichelt, Christina Guttmann-Gruber, Verena Wally, Josefina Piñón Hofbauer, Johann Wolfgang Bauer, Toni Cathomen, Thomas Kocher, Ulrich Koller
Publikováno v:
Molecular therapy : the journal of the American Society of Gene Therapy. 30(8)
Documento escrito por un elevado número de autores/as, solo se referencia el/la que aparece en primer lugar y los/as autores/as pertenecientes a la UC3M. Junctional epidermolysis bullosa (JEB) is a debilitating hereditary skin disorder caused by mut
Autor:
Thomas, Kocher, Johannes, Bischof, Simone Alexandra, Haas, Oliver Patrick, March, Bernadette, Liemberger, Stefan, Hainzl, Julia, Illmer, Anna, Hoog, Katharina, Muigg, Heide-Marie, Binder, Alfred, Klausegger, Dirk, Strunk, Johann Wolfgang, Bauer, Toni, Cathomen, Ulrich, Koller
Publikováno v:
Molecular Therapy. Nucleic Acids
Gene editing via homology-directed repair (HDR) currently comprises the best strategy to obtain perfect corrections for pathogenic mutations of monogenic diseases, such as the severe recessive dystrophic form of the blistering skin disease epidermoly
Publikováno v:
Cells
Cells, Vol 9, Iss 1, p 112 (2020)
Cells, Vol 9, Iss 1, p 112 (2020)
The skin provides direct protection to the human body from assault by the harsh external environment. The crucial function of this organ is significantly disrupted in genodermatoses patients. Genodermatoses comprise a heterogeneous group of largely m
Publikováno v:
Experimental Physiology. 103:449-455
New Findings What is the topic of this review? This review concerns current gene editing strategies for blistering skin diseases with respect to individual genetic constellations and distinct conditions. What advances does it highlight? Specificity a
Autor:
Alfred Klausegger, Julia Reichelt, Josefina Piñón Hofbauer, Nina Lackner, Christina Guttmann-Gruber, Patricia Peking, Ulrich Koller, Thomas Kocher, Neil Rajan, Oliver Patrick March, Thomas Lettner, Stefan Hainzl, Anette Bygum, Michael Ablinger
Publikováno v:
March, O P, Lettner, T, Klausegger, A, Ablinger, M, Kocher, T, Hainzl, S, Peking, P, Lackner, N, Rajan, N, Hofbauer, J P, Guttmann-Gruber, C, Bygum, A, Koller, U & Reichelt, J 2019, ' Gene Editing–Mediated Disruption of Epidermolytic Ichthyosis–Associated KRT10 Alleles Restores Filament Stability in Keratinocytes ', Journal of Investigative Dermatology, vol. 139, no. 8, pp. 1699-1710.e6 . https://doi.org/10.1016/j.jid.2019.03.1146
Epidermolytic ichthyosis is a skin fragility disorder caused by dominant-negative mutations in KRT1 or KRT10. No definitive restorative therapies exist that target these genetic faults. Gene editing can be used to efficiently introduce frameshift mut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c7415cc314ce712ffd3fe9e37f5402b
https://findresearcher.sdu.dk:8443/ws/files/152548397/Gene_Editing_Mediated_Disruption_of_Epidermolytic_Ichthyosis_Associated_KRT10_Alleles_Restores_Filament_Stability_in_Keratinocytes.pdf
https://findresearcher.sdu.dk:8443/ws/files/152548397/Gene_Editing_Mediated_Disruption_of_Epidermolytic_Ichthyosis_Associated_KRT10_Alleles_Restores_Filament_Stability_in_Keratinocytes.pdf