Recessive Dystrophic Epidermolysis bullosa due to Hemizygous 40 kb Deletion of COL7A1 and the Proximate PFKFB4 Gene Focusing on the Mutation c.425A>G Mimicking Homozygous Status

por Klausegger, Alfred, Jeschko, Niklas, Grammer, Markus, Cemper-Kiesslich, Jan, Neuhuber, Franz, Diem, Anja, Breitenbach-Koller, Hannelore, Sander, Gabriele, Kotzot, Dieter, Bauer, Johann Wolfgang, Laimer, Martin
Publicado 2022

Cut and Paste: Efficient Homology-Directed Repair of a Dominant Negative KRT14 Mutation via CRISPR/Cas9 Nickases

por Kocher, Thomas, Peking, Patricia, Klausegger, Alfred, Murauer, Eva Maria, Hofbauer, Josefina Piñón, Wally, Verena, Lettner, Thomas, Hainzl, Stefan, Ablinger, Michael, Bauer, Johann Wolfgang, Reichelt, Julia, Koller, Ulrich
Publicado 2017

A non-viral and selection-free COL7A1 HDR approach with improved safety profile for dystrophic epidermolysis bullosa

por Kocher, Thomas, Bischof, Johannes, Haas, Simone Alexandra, March, Oliver Patrick, Liemberger, Bernadette, Hainzl, Stefan, Illmer, Julia, Hoog, Anna, Muigg, Katharina, Binder, Heide-Marie, Klausegger, Alfred, Strunk, Dirk, Bauer, Johann Wolfgang, Cathomen, Toni, Koller, Ulrich
Publicado 2021

COL17A1 editing via homology-directed repair in junctional epidermolysis bullosa

por Petković, Igor, Bischof, Johannes, Kocher, Thomas, March, Oliver Patrick, Liemberger, Bernadette, Hainzl, Stefan, Strunk, Dirk, Raninger, Anna Maria, Binder, Heide-Marie, Reichelt, Julia, Guttmann-Gruber, Christina, Wally, Verena, Piñón Hofbauer, Josefina, Bauer, Johann Wolfgang, Koller, Ulrich
Publicado 2022

Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa

por Bischof, Johannes, March, Oliver Patrick, Liemberger, Bernadette, Haas, Simone Alexandra, Hainzl, Stefan, Petković, Igor, Leb-Reichl, Victoria, Illmer, Julia, Korotchenko, Evgeniia, Klausegger, Alfred, Hoog, Anna, Binder, Heide-Marie, Garcia, Marta, Duarte, Blanca, Strunk, Dirk, Larcher, Fernando, Reichelt, Julia, Guttmann-Gruber, Christina, Wally, Verena, Hofbauer, Josefina Piñón, Bauer, Johann Wolfgang, Cathomen, Toni, Kocher, Thomas, Koller, Ulrich
Publicado 2022