Endothelial Differentiation of CCM1 Knockout iPSCs Triggers the Establishment of a Specific Gene Expression Signature
Pilz, Robin A, Skowronek, Dariush, Mellinger, Lara, Bekeschus, Sander, Felbor, Ute, Rath, Matthias
Published in International journal of molecular sciences (16.02.2023)
Published in International journal of molecular sciences (16.02.2023)
Get full text
Journal Article
Cas9-Mediated Nanopore Sequencing Enables Precise Characterization of Structural Variants in CCM Genes
Skowronek, Dariush, Pilz, Robin A, Bonde, Loisa, Schamuhn, Ole J, Feldmann, Janne L, Hoffjan, Sabine, Much, Christiane D, Felbor, Ute, Rath, Matthias
Published in International journal of molecular sciences (09.12.2022)
Published in International journal of molecular sciences (09.12.2022)
Get full text
Journal Article
Using CRISPR/Cas9 genome editing in human iPSCs for deciphering the pathogenicity of a novel CCM1 transcription start site deletion
Pilz, Robin A., Skowronek, Dariush, Hamed, Motaz, Weise, Anja, Mangold, Elisabeth, Radbruch, Alexander, Pietsch, Torsten, Felbor, Ute, Rath, Matthias
Published in Frontiers in molecular biosciences (25.08.2022)
Published in Frontiers in molecular biosciences (25.08.2022)
Get full text
Journal Article
Contact-dependent signaling triggers tumor-like proliferation of CCM3 knockout endothelial cells in co-culture with wild-type cells
Rath, Matthias, Schwefel, Konrad, Malinverno, Matteo, Skowronek, Dariush, Leopoldi, Alexandra, Pilz, Robin A., Biedenweg, Doreen, Bekeschus, Sander, Penninger, Josef M., Dejana, Elisabetta, Felbor, Ute
Published in Cellular and molecular life sciences : CMLS (01.06.2022)
Published in Cellular and molecular life sciences : CMLS (01.06.2022)
Get full text
Journal Article
Exome sequencing identifies a recurrent SOX2 deletion in a patient with gait ataxia and dystonia lacking major ocular malformations
Pilz, Robin A., Korenke, G. Christoph, Steeb, Rainer, Strom, Tim M., Felbor, Ute, Rath, Matthias
Published in Journal of the neurological sciences (15.06.2019)
Published in Journal of the neurological sciences (15.06.2019)
Get full text
Journal Article
Biallelic CCM3 mutations cause a clonogenic survival advantage and endothelial cell stiffening
Schwefel, Konrad, Spiegler, Stefanie, Ameling, Sabine, Much, Christiane D., Pilz, Robin A., Otto, Oliver, Völker, Uwe, Felbor, Ute, Rath, Matthias
Published in Journal of cellular and molecular medicine (01.03.2019)
Published in Journal of cellular and molecular medicine (01.03.2019)
Get full text
Journal Article
First interchromosomal insertion in a patient with cerebral and spinal cavernous malformations
Pilz, Robin A, Schwefel, Konrad, Weise, Anja, Liehr, Thomas, Demmer, Philipp, Spuler, Andreas, Spiegler, Stefanie, Gilberg, Eberhard, Hübner, Christian A, Felbor, Ute, Rath, Matthias
Published in Scientific reports (14.04.2020)
Published in Scientific reports (14.04.2020)
Get full text
Journal Article
Bringing CCM into a dish: cell culture models for cerebral cavernous malformations
Skowronek, Dariush, Pilz, Robin A., Schwefel, Konrad, Much, Christiane D., Felbor, Ute, Rath, Matthias
Published in Medizinische Genetik (31.12.2021)
Published in Medizinische Genetik (31.12.2021)
Get full text
Journal Article
Endothelial Differentiation of ICCM1/I Knockout iPSCs Triggers the Establishment of a Specific Gene Expression Signature
Pilz, Robin A, Skowronek, Dariush, Mellinger, Lara, Bekeschus, Sander, Felbor, Ute, Rath, Matthias
Published in International journal of molecular sciences (01.02.2023)
Published in International journal of molecular sciences (01.02.2023)
Get full text
Journal Article
Exome sequencing identifies a recurrent SOX2 deletion in a patient with gait ataxia and dystonia lacking major ocular malformations
Pilz, Robin A, Korenke, G Christoph, Steeb, Rainer, Strom, Tim M, Felbor, Ute, Rath, Matthias
Published in Journal of the neurological sciences (15.06.2019)
Published in Journal of the neurological sciences (15.06.2019)
Get full text
Report