Precise CCM1 gene correction and inactivation in patient‐derived endothelial cells: Modeling Knudson's two‐hit hypothesis in vitro

por Spiegler, Stefanie, Rath, Matthias, Much, Christiane D., Sendtner, Barbara S., Felbor, Ute
Publicado 2019

Biallelic CCM3 mutations cause a clonogenic survival advantage and endothelial cell stiffening

por Schwefel, Konrad, Spiegler, Stefanie, Ameling, Sabine, Much, Christiane D., Pilz, Robin A., Otto, Oliver, Völker, Uwe, Felbor, Ute, Rath, Matthias
Publicado 2018

Inactivation of Cerebral Cavernous Malformation Genes Results in Accumulation of von Willebrand Factor and Redistribution of Weibel-Palade Bodies in Endothelial Cells

por Much, Christiane D., Sendtner, Barbara S., Schwefel, Konrad, Freund, Eric, Bekeschus, Sander, Otto, Oliver, Pagenstecher, Axel, Felbor, Ute, Rath, Matthias, Spiegler, Stefanie
Publicado 2021

Cas9-Mediated Nanopore Sequencing Enables Precise Characterization of Structural Variants in CCM Genes

por Skowronek, Dariush, Pilz, Robin A., Bonde, Loisa, Schamuhn, Ole J., Feldmann, Janne L., Hoffjan, Sabine, Much, Christiane D., Felbor, Ute, Rath, Matthias
Publicado 2022

Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations

por Much, Christiane D., Schwefel, Konrad, Skowronek, Dariush, Shoubash, Loay, von Podewils, Felix, Elbracht, Miriam, Spiegler, Stefanie, Kurth, Ingo, Flöel, Agnes, Schroeder, Henry W. S., Felbor, Ute, Rath, Matthias
Publicado 2019